- Laboratories
- Centrum Medische Genetica - UZ Antwerpen
Centrum Medische Genetica - UZ Antwerpen
Name of the laboratory: |
Centrum Medische Genetica - UZ Antwerpen
|
Abbreviation: |
UZA
|
Institute name: |
University Hospital of Antwerp UZA
|
Abbreviation institute: |
UZA
|
RIZIV number: |
81199094-996
|
Address: |
Prins Boudewijnlaan, 43/6 |
Telephone: | |
Fax: | |
E-mail: |
medische.genetica@uza.be
|
URL: | |
EQA: |
2016
DNA Sequencing – NGS (vGermline)
EMQN
2017
DNA Sequencing – NGS (vGermline)
EMQN
2018
DNA Sequencing – NGS (vGermline)
EMQN
2019
DNA Sequencing – NGS (vGermline)
EMQN
2020
DNA Sequencing – NGS (vGermline)
EMQN
2021
DNA Sequencing – NGS (vGermline)
EMQN
2022
DNA Sequencing – NGS (vGermline)
EMQN
2023
DNA Sequencing – NGS (vGermline)
EMQN
2015
DNA Sequencing - Sanger
EMQN
2016
DNA Sequencing - Sanger
EMQN
2017
DNA Sequencing - Sanger
EMQN
2018
DNA Sequencing - Sanger
EMQN
2019
DNA Sequencing - Sanger
EMQN
2020
DNA Sequencing - Sanger
EMQN
2021
DNA Sequencing - Sanger
EMQN
2022
DNA Sequencing - Sanger
EMQN
2023
DNA Sequencing - Sanger
EMQN
2015
Postnatal constitutional CNV detection (array)
EMQN
2016
Postnatal constitutional CNV detection (array)
EMQN
2017
Postnatal constitutional CNV detection (array)
EMQN
2018
Postnatal constitutional CNV detection (array)
EMQN
2019
Postnatal constitutional CNV detection (array)
EMQN
2020
Postnatal constitutional CNV detection
EMQN
2021
Postnatal constitutional CNV detection
EMQN
2022
Postnatal constitutional CNV detection
EMQN
2023
Postnatal constitutional CNV detection
EMQN
2015
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2016
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2017
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2018
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2019
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2020
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2021
Prenatal constitutional CNV detection
GenQA (Genomics Quality Assessment)
2015
Blood -postnatal
GenQA (Genomics Quality Assessment)
2016
Blood -postnatal
GenQA (Genomics Quality Assessment)
2017
Blood -postnatal
GenQA (Genomics Quality Assessment)
2018
Blood -postnatal
GenQA (Genomics Quality Assessment)
2019
Blood -postnatal
GenQA (Genomics Quality Assessment)
2020
Blood postnatal
GenQA (Genomics Quality Assessment)
2021
Recurrent miscarriage karyotyping
GenQA (Genomics Quality Assessment)
2022
Postnatal karyotyping
GenQA (Genomics Quality Assessment)
2023
Postnatal karyotyping
GenQA (Genomics Quality Assessment)
2018
PGT for monogenic disorders
GenQA (Genomics Quality Assessment)
2019
PGT for monogenic disorders
GenQA (Genomics Quality Assessment)
2020
PGT for monogenic disorders
GenQA (Genomics Quality Assessment)
2021
PGT for monogenic disorders
GenQA (Genomics Quality Assessment)
2022
PGT for monogenic disorders
GenQA (Genomics Quality Assessment)
2023
PGT for monogenic disorders
GenQA (Genomics Quality Assessment)
2022
PGT for chromosomal rearrangements (NGS/arrays)
GenQA (Genomics Quality Assessment)
2023
PGT for chromosomal rearrangements (NGS/arrays)
GenQA (Genomics Quality Assessment)
2021
Rapid prenatal testing for common aneuploidies
GenQA (Genomics Quality Assessment)
2023
Rapid prenatal testing for common aneuploidies
GenQA (Genomics Quality Assessment)
2022
Non-invasive prenatal testing (NIPT) for common aneuploidies
EMQN
2023
Non-invasive prenatal testing (NIPT) for common aneuploidies
EMQN
|
Created: |
27 Jul 2018 - 13:26
|
Changed: |
22 Jan 2024 - 15:23
|
- Achondroplasia (hot spot mutation - p.Gly380)
- Adams-Oliver syndrome (gene panel)
- Adrenogenital syndrome
- Amyloidosis, cardiac (full screening of the 4 exons for TTR)
- Amyotrophic lateral sclerosis - SOD1
- Aneurysm, Thoracic Aortic, familial (gene panel)
- Angelman / Prader Willi Syndrome
- Azoo-/oligozoospermia (microdeletion of 3 regions of Y-chromosome AZFa, b and c)
- Becker muscular dystrophy / Duchenne muscular dystrophy (Full sequencing DMD gene through Myopathy gene panel)
- Becker muscular dystrophy / Duchenne muscular dystrophy (deletion/duplication DMD gene)
- Breast and Ovarian Cancer, hereditary, HBOC, Familial (gene panel)
- Canavan disease (hot spot mutation - p.Glu285Ala, p.Tyr231*)
- Cardiomyopathy: hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, left ventricular non-compaction cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy (gene panel)
- Carnitine Palmitoyl transferase type II
- Cerebral palsy (gene panel)
- Charcot-Marie-Tooth type 1A / Hereditary Neuropathy with Liability to Pressure Palsies
- Clouston syndrome
- Craniosynostosis syndrome (hot spot mutation - p.Pro252Arg)
- Craniosynostosis syndromes (Apert, Crouzon)
- Craniosynostosis, Muenke syndrome (hot spot mutation - p.Pro250Arg)
- Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (50 hot spot mutations)
- Cystic Fibrosis / Congenital absence of the vas deferens / CFTR-related disorders (Sequencing CFTR gene)
- Cystic Fibrosis, newborn screening (12 hot spot mutations; CFTR)
- Deafness, autosomal dominant 6/14 / Wolfram syndrome
- Deafness, autosomal recessive 1A
- Dementia, young onset (gene panel)
- Dentatorubral pallidoluysian atrophy (DRPLA) - CAG repeat expansion
- Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (gene panel)
- Diabetes, mitochondrial (hot spot mutation - m.3243A>G, MTTL1 (tRNA-Leu) )
- Dihydropyrimidine dehydrogenase deficiency/5-fluorouracil toxicity - Pharmacogenetics (4 variants: DPYD*2A, DPYD*13, c.2846A>T, HapB3)
- Dysautonomia, familial (FD) (hot spot mutation - c.2204+6T>C)
- Ectodermal dysplasia
- Epilepsy (gene panel)
- Epilepsy without developmental delay, familial (gene panel)
- Fanconi anemia (FANCC) (hot spot mutation - c.456+4A>T)
- Fragile X syndrome/FXPOI/FXTAS - CGG repeat expansion
- Hearing loss (deafness), (gene panel)
- Hearing loss (deafness), autosomal dominant 9 (COCH exons 4 and 5)
- Hearing loss, STRC gene
- Hemochromatosis hereditary type 1 (hot spot mutations - p.Cys282Tyr; p.His63Asp)
- Hereditary Spastic Paraplegia (gene panel)
- Huntington disease - CAG repeat expansion
- Hypercholesterolemia, Familial (gene panel)
- Hyperinsulinism (gene panel)
- Hypochondroplasia (full sequencing)
- Hypochondroplasia (hot spot mutation - p.Asn540Lys)
- Hypophosphatemic rickets
- Intellectual disability (gene panel)
- Jewish mutation panel (Tay Sachs, Fanconi, Dysautonomia, Canavan) (4 genes; 7 hot spot mutations)
- Kennedy disease (Spinal and bulbar muscular atrophy, SBMA) - CAG repeat expansion
- Leri-Weill dyschondrosteosis / SHOX-related short stature
- Maturity onset Diabete of the Young (MODY), type 5 / Renal cysts and diabetes syndrome (gene panel)
- Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure (hot spot mutation - 1555A-G in MT-RNR1)
- Multiple endocrine neoplasia, type 1
- Multiple osteochondromas (2 genes)
- Myopathy (gene panel)
- Myotonic dystrophy type 2 - CCTG repeat expansion
- Obesity (gene panel)
- Pendred syndrome
- Peripheral neuropathy (gene panel)
- Perrault syndrome (gene panel)
- Primary Electrical disorders / Brugada syndrome / Long QT syndrome (LQT) / Short QT syndrome (SQT) / Arrhythmogenic right ventricular cardiomyopathy (ARVC) / Catecholaminergic polymorphic ventricular tachycardia (CPVT) (gene panel)
- Short stature/ Growth retardation/ (gene panel)
- Skeletal dysplasia (gene panel)
- Smith Lemli Opitz
- Spinal muscular atrophy (SMA) type 1 (Werdnig-Hoffmann), type 2, type 3 (Kugelberg-Welander) and type 4
- Spinocerebellar ataxia (SCA) type 17 - CAG/CAA repeat expansion
- Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, 7 - CAG repeat expansion
- Spinocerebellar ataxia (SCA) types 8, 10, 12, 17 - repeat expansion
- Steinert myotonic dystrophy - CTG repeat expansion
- Stickler syndrome (gene panel)
- Tay Sachs disease (hot spot mutations - c.1274_1277dupTATC, c.1421+1G>C and c.805G>A (p.Gly269Ser))
- Thanatophoric dysplasia (hot spot mutations - p.Tyr373Cys, p.Arg248Cys, p.Ser249Cys)
- Treacher Collins (gene panel)
- UGT1A1 deficiency - Pharmacogenetics (2 variants: c.-35(TA)nTAA promotor polymorfism (UGT1A1 *28), c.211G>A p.(Gly71Arg) variant (UGT1A1 *6))
- Usher syndrome (gene panel)
- Von Willebrand disease
- Waardenburg syndrome (gene panel)
- 17q11 microdeletion syndrome
- 3M syndrome
- 5-fluorouracil toxicity
- 9q33.3q34.11 microdeletion syndrome
- Aarskog-Scott syndrome
- Achondroplasia
- Acromesomelic dysplasia, Maroteaux type
- Action myoclonus-renal failure syndrome
- Adams-Oliver syndrome
- Alpers-Huttenlocher syndrome
- Amyotrophic lateral sclerosis
- Angelman syndrome due to imprinting defect in 15q11-q13
- Angelman syndrome due to maternal 15q11q13 deletion
- Angelman syndrome due to paternal uniparental disomy of chromosome 15
- Apert syndrome
- Arterial tortuosity syndrome
- Ataxia with vitamin E deficiency
- Atypical Rett syndrome
- Autosomal dominant Charcot-Marie-Tooth disease type 2D
- Autosomal dominant Charcot-Marie-Tooth disease type 2DD
- Autosomal dominant Charcot-Marie-Tooth disease type 2F
- Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Autosomal dominant Charcot-Marie-Tooth disease type 2L
- Autosomal dominant Charcot-Marie-Tooth disease type 2N
- Autosomal dominant Charcot-Marie-Tooth disease type 2W
- Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
- Autosomal dominant cutis laxa
- Autosomal dominant epilepsy with auditory features
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
- Autosomal dominant nocturnal frontal lobe epilepsy
- Autosomal dominant non-syndromic intellectual disability
- Autosomal dominant spastic paraplegia type 10
- Autosomal dominant spastic paraplegia type 12
- Autosomal dominant spastic paraplegia type 17
- Autosomal dominant spastic paraplegia type 3
- Autosomal dominant spastic paraplegia type 31
- Autosomal dominant spastic paraplegia type 4
- Autosomal dominant spastic paraplegia type 73
- Autosomal dominant spastic paraplegia type 8
- Autosomal dominant spastic paraplegia type 9A
- Autosomal dominant spastic paraplegia type 9B
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Autosomal recessive Robinow syndrome
- Autosomal recessive Stickler syndrome
- Autosomal recessive ataxia, Beauce type
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Autosomal recessive cerebellar ataxia with late-onset spasticity
- Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
- Autosomal recessive hyperinsulinism due to SUR1 deficiency
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
- Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
- Autosomal recessive non-syndromic intellectual disability
- Autosomal recessive primary microcephaly
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 15
- Autosomal recessive spastic paraplegia type 21
- Autosomal recessive spastic paraplegia type 26
- Autosomal recessive spastic paraplegia type 28
- Autosomal recessive spastic paraplegia type 35
- Autosomal recessive spastic paraplegia type 39
- Autosomal recessive spastic paraplegia type 46
- Autosomal recessive spastic paraplegia type 48
- Autosomal recessive spastic paraplegia type 5A
- Autosomal recessive spastic paraplegia type 62
- Autosomal recessive spastic paraplegia type 76
- Autosomal recessive spastic paraplegia type 77
- Autosomal recessive spastic paraplegia type 78
- Autosomal recessive spastic paraplegia type 9B
- Autosomal spastic paraplegia type 18
- Autosomal spastic paraplegia type 30
- Autosomal spastic paraplegia type 58
- Autosomal spastic paraplegia type 72
- Baraitser-Winter cerebrofrontofacial syndrome
- Becker muscular dystrophy
- Benign familial infantile epilepsy
- Benign familial neonatal epilepsy
- Benign familial neonatal-infantile seizures
- Bilateral generalized polymicrogyria
- CDKL5-deficiency disorder
- CLN1 disease
- CLN10 disease
- CLN2 disease
- CLN3 disease
- CLN4A disease
- CLN5 disease
- CLN6 disease
- CLN7 disease
- CLN8 disease
- CNTNAP2-related developmental and epileptic encephalopathy
- Cardiac-valvular Ehlers-Danlos syndrome
- Carnitine palmitoyl transferase II deficiency, myopathic form
- Carnitine palmitoyl transferase II deficiency, neonatal form
- Carnitine palmitoyl transferase II deficiency, severe infantile form
- Catecholaminergic polymorphic ventricular tachycardia
- Charcot-Marie-Tooth disease type 1A
- Charcot-Marie-Tooth disease type 1D
- Charcot-Marie-Tooth disease type 1E
- Charcot-Marie-Tooth disease type 2H
- Charcot-Marie-Tooth disease type 4A
- Charcot-Marie-Tooth disease type 4E
- Charcot-Marie-Tooth disease type 4G
- Charcot-Marie-Tooth disease type 4H
- Charcot-Marie-Tooth disease type 4J
- Childhood absence epilepsy
- Cholesteryl ester storage disease
- Christianson syndrome
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
- Classical Ehlers-Danlos syndrome
- Coffin-Siris syndrome
- Congenital bilateral absence of vas deferens
- Congenital hyperinsulinism due to HNF4A deficiency
- Continuous spikes and waves during sleep
- Cornelia de Lange syndrome
- Corpus callosum agenesis-abnormal genitalia syndrome
- Craniosynostosis-microretrognathia-severe intellectual disability syndrome
- Crouzon syndrome
- Cystic fibrosis
- DNA2-related mitochondrial DNA deletion syndrome
- Dejerine-Sottas syndrome
- Dentatorubral pallidoluysian atrophy
- Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
- Distal hereditary motor neuropathy type 2
- Distal hereditary motor neuropathy type 5
- Dravet syndrome
- Duchenne muscular dystrophy
- EAST syndrome
- Ear-patella-short stature syndrome
- Early infantile epileptic encephalopathy
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- Epileptic encephalopathy with global cerebral demyelination
- FOXG1 syndrome
- Familial atrial fibrillation
- Familial bicuspid aortic valve
- Familial dysautonomia
- Familial encephalopathy with neuroserpin inclusion bodies
- Familial focal epilepsy with variable foci
- Familial infantile myoclonic epilepsy
- Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
- Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
- Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
- Familial isolated dilated cardiomyopathy
- Familial isolated restrictive cardiomyopathy
- Familial osteochondritis dissecans
- Familial porencephaly
- Familial progressive cardiac conduction defect
- Familial schizencephaly
- Familial short QT syndrome
- Familial sick sinus syndrome
- Familial thoracic aortic aneurysm and aortic dissection
- Fanconi anemia
- Female restricted epilepsy with intellectual disability
- Floating-Harbor syndrome
- Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
- Fragile X syndrome
- Fragile X-associated tremor/ataxia syndrome
- Generalized epilepsy with febrile seizures-plus
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
- Growth delay due to insulin-like growth factor I resistance
- Growth delay due to insulin-like growth factor type 1 deficiency
- Hemochromatosis type 1 (NON RARE IN EUROPE)
- Hereditary ATTR amyloidosis
- Hereditary breast and/or ovarian cancer syndrome
- Hereditary breast cancer
- Hereditary chronic pancreatitis
- Hereditary neuropathy with liability to pressure palsies
- Heterozygous familial hypercholesterolemia (NON RARE IN EUROPE)
- Hidrotic ectodermal dysplasia
- Homozygous familial hypercholesterolemia
- Huntington disease
- Hyperekplexia-epilepsy syndrome
- Hyperinsulinism due to HNF1A deficiency
- Hyperinsulinism due to INSR deficiency
- Hypochondroplasia
- Idiopathic bronchiectasis
- Idiopathic pulmonary fibrosis
- Idiopathic ventricular fibrillation, non Brugada type
- Infantile convulsions and choreoathetosis
- Infantile epileptic-dyskinetic encephalopathy
- Infantile spasms syndrome
- Isolated focal cortical dysplasia type IIa
- Isolated focal cortical dysplasia type IIb
- Isolated focal cortical dysplasia type Ia
- Isolated growth hormone deficiency type IB
- Isolated permanent neonatal diabetes mellitus
- Juvenile myoclonic epilepsy
- KCNQ2-related epileptic encephalopathy
- KDM5C-related syndromic X-linked intellectual disability
- Kennedy disease
- Kleefstra syndrome due to 9q34 microdeletion
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
- Lafora disease
- Landau-Kleffner syndrome
- Langer mesomelic dysplasia
- Laron syndrome
- Laron syndrome with immunodeficiency
- Left ventricular noncompaction
- Lennox-Gastaut syndrome
- Lissencephaly due to LIS1 mutation
- Lissencephaly due to TUBA1A mutation
- Lissencephaly syndrome, Norman-Roberts type
- Lissencephaly type 1 due to doublecortin gene mutation
- Loeys-Dietz syndrome
- Léri-Weill dyschondrosteosis
- MELAS
- MODY
- Machado-Joseph disease type 3
- Malignant migrating focal seizures of infancy
- Marfan syndrome type 1
- Melnick-Needles syndrome
- Microcephalic osteodysplastic primordial dwarfism type II
- Microcephalic primordial dwarfism, Dauber type
- Mild Canavan disease
- Miller-Dieker syndrome
- Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure
- Mowat-Wilson syndrome due to a ZEB2 point mutation
- Mowat-Wilson syndrome due to monosomy 2q22
- Muenke syndrome
- Mulibrey nanism
- Multiple endocrine neoplasia type 1
- Multiple osteochondromas
- Muscular dystrophy, Selcen type
- Myoclonic-astatic epilepsy
- Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
- Neuropathy with hearing impairment
- Non-specific early-onset epileptic encephalopathy
- Obesity due to SIM1 deficiency
- Obesity due to congenital leptin deficiency
- Obesity due to leptin receptor gene deficiency
- Obesity due to melanocortin 4 receptor deficiency
- Obesity due to pro-opiomelanocortin deficiency
- Obesity due to prohormone convertase I deficiency
- Otopalatodigital syndrome type 1
- Otopalatodigital syndrome type 2
- PEHO syndrome
- Partial chromosome Y deletion
- Partington syndrome
- Pendred syndrome
- Peripheral resistance to thyroid hormones
- Periventricular nodular heterotopia
- Perrault syndrome
- Pfeiffer syndrome type 1
- Pitt-Hopkins syndrome
- Pitt-Hopkins-like syndrome
- Prader-Willi syndrome due to imprinting mutation
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
- Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
- Progressive epilepsy-intellectual disability syndrome, Finnish type
- Progressive myoclonic epilepsy type 1
- Progressive myoclonic epilepsy type 3
- Progressive myoclonic epilepsy type 5
- Progressive myoclonic epilepsy type 6
- Progressive myoclonic epilepsy type 7
- Progressive myoclonic epilepsy type 8
- Progressive myoclonic epilepsy with dystonia
- Proteus syndrome
- Proximal myotonic myopathy
- Proximal spinal muscular atrophy type 1
- Proximal spinal muscular atrophy type 2
- Proximal spinal muscular atrophy type 3
- Proximal spinal muscular atrophy type 4
- Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
- Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
- Rett syndrome
- Rolandic epilepsy
- Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
- Rolandic epilepsy-speech dyspraxia syndrome
- SHOX-related short stature
- SYNGAP1-related developmental and epileptic encephalopathy
- Saethre-Chotzen syndrome
- Seckel syndrome
- Semilobar holoprosencephaly
- Severe Canavan disease
- Severe intellectual disability and progressive spastic paraplegia
- Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
- Severe neonatal-onset encephalopathy with microcephaly
- Severe neurodegenerative syndrome with lipodystrophy
- Short stature due to growth hormone qualitative anomaly
- Short stature due to partial GHR deficiency
- Short stature-advanced bone age-early-onset osteoarthritis syndrome
- Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
- Shprintzen-Goldberg syndrome
- Smith-Lemli-Opitz syndrome
- Spastic paraplegia type 2
- Spastic paraplegia-severe developmental delay-epilepsy syndrome
- Spectrin-associated autosomal recessive cerebellar ataxia
- Spinocerebellar ataxia type 1
- Spinocerebellar ataxia type 10
- Spinocerebellar ataxia type 12
- Spinocerebellar ataxia type 17
- Spinocerebellar ataxia type 2
- Spinocerebellar ataxia type 6
- Spinocerebellar ataxia type 7
- Spinocerebellar ataxia type 8
- Spinocerebellar ataxia with axonal neuropathy type 2
- Spondyloepimetaphyseal dysplasia, aggrecan type
- Spondyloepiphyseal dysplasia, Kimberley type
- Steinert myotonic dystrophy
- Stickler syndrome type 1
- Stickler syndrome type 2
- Stiff skin syndrome
- Symptomatic form of fragile X syndrome in female carriers
- Symptomatic form of hemochromatosis type 1
- Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
- Tall stature-long halluces-multiple extra-epiphyses syndrome
- Tay-Sachs disease, B variant, adult form
- Tay-Sachs disease, B variant, infantile form
- Tay-Sachs disease, B variant, juvenile form
- Tay-Sachs disease, B1 variant
- Thanatophoric dysplasia type 1
- Thanatophoric dysplasia type 2
- Thiamine-responsive encephalopathy
- Transient neonatal diabetes mellitus
- Treacher-Collins syndrome
- Tuberous sclerosis complex
- Usher syndrome type 1
- Usher syndrome type 2
- Usher syndrome type 3
- Vascular Ehlers-Danlos syndrome
- Von Willebrand disease type 1
- Von Willebrand disease type 2A
- Von Willebrand disease type 2B
- Von Willebrand disease type 2M
- Von Willebrand disease type 2N
- Von Willebrand disease type 3
- Waardenburg syndrome type 1
- Waardenburg syndrome type 2
- Waardenburg syndrome type 3
- Waardenburg-Shah syndrome
- Walker-Warburg syndrome
- Wiedemann-Steiner syndrome
- Wilson disease
- Wolfram syndrome
- X-linked Charcot-Marie-Tooth disease type 1
- X-linked Charcot-Marie-Tooth disease type 4
- X-linked Ehlers-Danlos syndrome
- X-linked complicated spastic paraplegia type 1
- X-linked epilepsy-learning disabilities-behavior disorders syndrome
- X-linked hypophosphatemia
- X-linked lissencephaly with abnormal genitalia
- X-linked non-syndromic intellectual disability
- X-linked spasticity-intellectual disability-epilepsy syndrome
-
Hot spot mutation among Jewish (4 genes, 7 mutations) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ASPA HEXA ELP1 FANCC -
(Familial) epilepsy without developmental delay (gene panel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATP1A2 100.00 1 CHRNB2 99.94 1 KCNA2 100.00 1 MTOR 99.95 1 PIK3C2B 99.97 1 SLC2A1 100.00 1 KCNMA1 99.93 1 LGI1 99.97 1 KCNA6 100.00 1 KCNC2 99.94 1 SCN8A 99.89 1 KCNH5 99.92 1 UNC79 99.94 1 GABRB3 99.95 1 ATP6V0C 100.00 1 GRIN2A 99.90 1 NPRL3 100.00 1 PRRT2 100.00 1 SETD1A 100.00 1 SLC7A6OS 100.00 1 STX1B 100.00 1 TBC1D24 100.00 1 TSC2 100.00 1 ATP1A3 100.00 1 CACNA1A 99.99 1 HCN2 91.06 1 SCN1B 100.00 1 SCN1A 99.93 1 SCN2A 99.94 1 SCN3A 99.95 1 CHRNA4 100.00 1 KCNQ2 100.00 1 SLC32A1 100.00 1 DEPDC5 99.98 1 CELSR3 100.00 1 NPRL2 100.00 1 GABRA1 99.96 1 GABRB2 99.91 1 GABRG2 99.15 1 HCN1 99.98 1 RELN 99.94 1 CHRNA2 100.00 1 CPA6 99.98 1 KCNQ3 99.87 1 ENG 100.00 1 KCNT1 100.00 1 RORB 99.92 1 TSC1 99.97 1 FLNA 100.00 1 MED12 99.90 1 NEXMIF 99.74 1 PCDH19 99.97 1 SLC7A3 99.84 1 SYN1 99.91 1 -
Adams-Oliver (6 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ARHGAP31 DOCK6 RBPJ NOTCH1 DLL4 EOGT -
Breast/ ovarian cancer (12 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments BRCA1 100.00 1 BRCA2 100.00 1 PALB2 100.00 1 TP53 100.00 1 CHEK2 100.00 1 ATM 100.00 1 BRIP1 100.00 1 RAD51C 100.00 1 RAD51D 100.00 1 MLH1 100.00 1 MSH2 100.00 1 MSH6 100.00 1 -
Cardiomyopathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 100.00 0 ACTC1 100.00 0 ACTN2 100.00 0 ANKRD1 100.00 0 BAG3 100.00 0 CAV3 100.00 0 CRYAB 100.00 0 CSRP3 100.00 0 CTNNA3 100.00 0 DES 100.00 0 DSC2 100.00 0 DSG2 100.00 0 DSP 100.00 0 EMD 100.00 0 FHL1 100.00 0 GLA 100.00 0 JUP 100.00 0 LAMA4 100.00 0 LAMP2 100.00 0 LDB3 100.00 0 LMNA 100.00 0 MIB1 100.00 0 MYBPC3 100.00 0 MYH6 98.00 0 MYH7 100.00 0 MYL2 100.00 0 NEXN 100.00 0 PKP2 100.00 0 PLN 100.00 0 PRDM16 100.00 0 PRKAG2 100.00 0 RBM20 100.00 0 SCN5A 100.00 0 SGCD 99.00 0 TAFAZZIN 100.00 0 TCAP 100.00 0 TGFB3 100.00 0 TMEM43 100.00 0 TNNC1 100.00 0 TNNI3 100.00 0 TNNT2 100.00 0 TPM1 100.00 0 TTN 100.00 0 TTR 100.00 0 VCL 100.00 0 RYR2 100.00 0 FLNC 100.00 0 FHL2 100.00 0 NEBL 100.00 0 RAF1 100.00 0 SDHA 100.00 0 SYNE1 100.00 0 CALR3 100.00 0 JPH2 100.00 0 ALPK3 100.00 0 MYL3 100.00 0 MYOZ2 100.00 0 MYPN 100.00 0 PPA2 100.00 0 CALR3 100.00 0 CDH2 100.00 0 DOLK 100.00 0 JPH2 100.00 0 MYL3 100.00 0 MYLK3 100.00 0 MYOZ2 100.00 0 NRAP 100.00 0 RPL3L 100.00 0 TNNI3K 100.00 0 -
Cerebral palsy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACOX1 100.00 1 ACTA2 100.00 1 ADA2 100.00 1 ADAR 99.98 1 ADCY5 100.00 1 ADD3 100.00 1 ADGRG1 100.00 1 AFG3L2 100.00 1 AGAP1 100.00 1 AHI1 99.95 1 AIMP1 99.99 1 AKT3 99.95 1 ALDH3A2 99.99 1 ALDH5A1 100.00 1 ALS2 99.99 1 AMFR 95.21 1 AMPD2 100.00 1 AMT 100.00 1 AP1S2 99.98 1 AP4B1 99.99 1 AP4E1 99.98 1 AP4M1 100.00 1 AP4S1 87.79 1 ARFGEF2 100.00 1 ARG1 100.00 1 ARL13B 93.63 1 ARSA 100.00 1 ARX 99.93 1 ASPA 99.97 1 ATAD3A 100.00 1 ATG5 99.98 1 ATG7 100.00 1 ATL1 100.00 1 ATM 99.97 1 ATP1A3 100.00 1 ATP7B 100.00 1 AUTS2 99.99 1 BCKDHA 100.00 1 BCKDHB 100.00 1 BSCL2 100.00 1 BTD 100.00 1 CACNA1A 100.00 1 CAMK4 100.00 1 CAMSAP1 99.97 1 CCDC82 99.98 1 CCND2 100.00 1 CDC40 99.99 1 CDKL5 100.00 1 CEP290 99.84 1 CHKA 97.23 1 CLN3 100.00 1 CNTNAP2 100.00 1 COL4A1 100.00 1 COL4A2 100.00 1 COLGALT1 98.45 1 COPB2 100.00 1 COQ8A 100.00 1 CRADD 100.00 1 CTNNB1 100.00 1 CYP2U1 99.27 1 CYP7B1 99.95 1 DARS1 100.00 1 DBT 100.00 1 DCX 100.00 1 DDC 100.00 1 DDHD1 100.00 1 DDHD2 99.97 1 DGUOK 100.00 1 DLD 100.00 1 DSTYK 100.00 1 DYNC1H1 100.00 1 DYRK1A 100.00 1 EIF2B1 100.00 1 EIF2B2 100.00 1 EIF2B3 100.00 1 EIF2B4 100.00 1 EIF2B5 100.00 1 EIF4A2 99.97 1 ELP2 99.99 1 EML1 100.00 1 EPHB4 99.99 1 ERLIN2 100.00 1 ERMARD 100.00 1 ESAM 100.00 1 F10 100.00 1 HYCC1 99.98 1 FARS2 100.00 1 FBXO31 99.94 1 FH 100.00 1 FLVCR2 100.00 1 FOXC1 99.89 1 FOXG1 100.00 1 FRMD5 100.00 1 GAD1 100.00 1 GALC 99.99 1 GALT 100.00 1 GAMT 100.00 1 GBA1 100.00 1 GCH1 100.00 1 GCSH 99.93 1 GEMIN5 100.00 1 GFAP 100.00 1 GJC2 99.67 1 GLB1 100.00 1 GLDC 99.96 1 GLRA1 100.00 1 GM2A 100.00 1 GNAO1 100.00 1 GNB1 99.98 1 GPHN 100.00 1 GRID2 100.00 1 GRIN1 100.00 1 GRIN2B 100.00 1 HECTD4 99.98 1 HEPACAM 100.00 1 HESX1 99.97 1 HEXA 100.00 1 HIKESHI 100.00 1 HPRT1 100.00 1 HSPD1 100.00 1 IFIH1 99.99 1 INTS8 99.98 1 ISG15 100.00 1 ITPR1 100.00 1 JAM3 100.00 1 KANK1 100.00 1 KATNB1 100.00 1 KCNC3 99.10 1 KCNQ2 100.00 1 KDM5C 99.07 1 KIDINS220 100.00 1 KIF1A 100.00 1 KIF1C 100.00 1 KIF2A 99.98 1 KIF5A 100.00 1 KIF5C 100.00 1 KPNA3 100.00 1 L1CAM 100.00 1 L2HGDH 99.97 1 LAMA2 100.00 1 LAMC3 99.77 1 LMBRD2 99.96 1 MACF1 100.00 1 MARS1 100.00 1 MARS2 100.00 1 MCPH1 94.71 1 MECP2 100.00 1 MINPP1 99.99 1 MMUT 99.96 1 MOCS1 100.00 1 MOCS2 100.00 1 MRPS25 100.00 1 MTHFR 100.00 1 MTOR 99.99 1 MTPAP 99.99 1 MTRFR 100.00 1 MTTP 100.00 1 NDE1 100.00 1 NIPA1 99.99 1 NKX2-1 100.00 1 NKX6-2 100.00 1 NOTCH3 99.79 1 NPC1 99.99 1 NPC2 100.00 1 NPHP1 99.98 1 NSRP1 99.99 1 NT5C2 100.00 1 PAFAH1B1 99.97 1 PAK3 99.99 1 PANK2 100.00 1 PCCA 99.99 1 PCCB 100.00 1 PCYT2 99.91 1 PDHA1 100.00 1 PDHX 100.00 1 PHYH 100.00 1 PIK3CA 99.97 1 PITRM1 99.99 1 PLA2G6 100.00 1 PLAA 100.00 1 PLP1 100.00 1 PMM2 100.00 1 PNP 100.00 1 POLG 99.99 1 POLR1C 97.57 1 POLR3A 100.00 1 POLR3B 99.98 1 PPIL1 100.00 1 PPT1 100.00 1 PRDM13 100.00 1 PYCR2 100.00 1 QDPR 100.00 1 RAB11B 100.00 1 RARS1 99.68 1 RASA1 99.86 1 REEP1 100.00 1 RELN 100.00 1 RHOB 100.00 1 RNASEH2A 100.00 1 RNASEH2B 99.96 1 RNASEH2C 100.00 1 RNASET2 100.00 1 RNU7-1 0.29 1 RTN2 100.00 1 SACS 99.99 1 SAMHD1 100.00 1 SCN3A 99.98 1 SCN8A 99.99 1 SELENOI 100.00 1 SEPSECS 99.96 1 SHH 100.00 1 SHQ1 100.00 1 SIX3 100.00 1 SLC16A2 100.00 1 SLC17A5 99.99 1 SLC18A2 100.00 1 SLC19A3 99.98 1 SLC2A1 100.00 1 SLC5A6 100.00 1 SLC6A1 100.00 1 SLC6A5 100.00 1 SPAST 100.00 1 SPG11 100.00 1 SPG7 100.00 1 SPR 100.00 1 SPTBN2 100.00 1 ST3GAL5 99.94 1 STAT2 100.00 1 STING1 100.00 1 STXBP1 100.00 1 SUOX 100.00 1 SURF1 99.77 1 TAF2 99.98 1 TCTN1 94.52 1 TECPR2 100.00 1 TFG 99.73 1 TGIF1 100.00 1 TH 100.00 1 THG1L 100.00 1 TMEM63C 100.00 1 TMX2 100.00 1 TNR 100.00 1 TPP1 100.00 1 TRAPPC12 100.00 1 TREX1 100.00 1 TSEN15 100.00 1 TSEN2 86.92 1 TSEN54 99.54 1 TTI1 100.00 1 TTPA 100.00 1 TUBA1A 100.00 1 TUBA8 100.00 1 TUBB 100.00 1 TUBB2A 100.00 1 TUBB2B 100.00 1 TUBB3 100.00 1 TUBB4A 99.87 1 TUBG1 100.00 1 UBE3A 99.98 1 USP18 100.00 1 VLDLR 100.00 1 VPS11 100.00 1 VPS37A 99.99 1 VPS53 99.98 1 WDR62 100.00 1 YY1AP1 100.00 1 ZBTB18 99.88 1 ZC4H2 100.00 1 ZFYVE26 100.00 1 ZIC2 100.00 1 -
Dementia, young onset (gene panel)
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments APOE 100.00 1 APP 100.00 1 CHCHD10 100.00 1 CHMP2B 100.00 1 CSF1R 100.00 1 FUS 100.00 1 GRN 100.00 1 HTRA1 95.00 1 ITM2B 100.00 1 MAPT 100.00 1 NOTCH3 98.00 1 OPTN 100.00 1 PRNP 100.00 1 PSEN1 100.00 1 PSEN2 100.00 1 TARDBP 100.00 1 TBK1 100.00 1 TREM2 100.00 1 TYROBP 100.00 1 UBQLN2 100.00 1 VCP 100.00 1 -
Diabetes neonatal / Maturity onset Diabete of the Young (MODY) / Hyperinsulinism (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments GCK 99.99 1 HNF1A 100.00 1 HNF1B 100.00 1 HNF4A 99.94 1 INS 100.00 1 ABCC8 99.99 1 KCNJ11 100.00 1 GLUD1 99.96 1 HADH 99.97 1 INSR 99.85 1 SLC16A1 99.96 1 -
Familial Hypercholesterolemia panel (8 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments LDLR 100.00 1 APOB 100.00 0 APOE 100.00 0 PCSK9 100.00 0 LDLRAP1 100.00 0 LIPA 100.00 0 ABCG5 100.00 0 ABCG8 100.00 0 -
Familial Thoracic Aortic Aneurysm (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABL1 100.00 0 ACTA2 100.00 0 ARIH1 100.00 0 ASPH 100.00 0 BGN 100.00 0 COL3A1 100.00 0 EFEMP2 100.00 0 ELN 100.00 0 EMILIN1 100.00 0 FBN1 100.00 1 FBN2 100.00 0 FKBP14 100.00 0 FLNA 100.00 0 FOXE3 100.00 0 HCN4 100.00 0 IPO8 100.00 0 JAG1 100.00 0 LMOD1 100.00 0 LOX 100.00 0 LTBP3 100.00 0 MAT2A 100.00 0 MFAP5 100.00 0 MYH11 100.00 0 MYLK 100.00 0 NOTCH1 100.00 0 NPR3 100.00 0 PLOD1 100.00 0 PMEPA1 100.00 0 PRKG1 100.00 0 ROBO4 100.00 0 SKI 100.00 0 SLC2A10 100.00 0 SMAD2 100.00 0 SMAD3 100.00 0 SMAD4 100.00 0 SMAD6 100.00 0 TBX20 100.00 0 TGFB2 100.00 0 TGFB3 100.00 0 TGFBR1 100.00 0 TGFBR2 100.00 1 THSD4 100.00 0 -
Growth retardation/short stature (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACAN 98.48 1 ALPL 99.97 1 ANKRD11 100.00 1 ARCN1 99.91 1 ARID1A 98.84 1 ARID1B 97.80 1 ARID2 99.96 1 BMP2 99.97 1 BRAF 98.17 1 BTK 99.34 1 CBL 99.89 1 CCDC8 100.00 1 CDC45 100.00 1 CDC6 99.94 1 CDKN1C 97.19 1 CDT1 94.33 1 CREBBP 99.91 1 CUL7 100.00 1 DHCR7 100.00 1 DVL1 100.00 1 EP300 99.96 1 FGD1 98.85 1 FGFR3 99.67 1 FLNA 99.89 1 GH1 100.00 1 GHR 99.78 1 GHRHR 99.79 1 GHSR 99.99 1 GMNN 99.70 1 HESX1 99.81 1 HMGA2 72.70 1 HRAS 100.00 1 IGF1 99.96 1 IGF1R 99.98 1 IGF2 100.00 1 IGFALS 100.00 1 IHH 99.93 1 KDM6A 98.95 1 KMT2A 99.18 1 KMT2D 99.98 1 KRAS 99.92 1 LZTR1 99.99 1 MAP2K1 99.98 1 MAP2K2 99.99 1 MAPK1 99.56 1 MRAS 100.00 1 NBAS 99.97 1 NPR2 99.97 1 NRAS 99.45 1 OBSL1 99.32 1 ORC1 99.96 1 ORC4 99.90 1 ORC6 99.91 1 PAPPA2 99.91 1 PIK3R1 99.80 1 PLAG1 99.90 1 POC1A 99.98 1 POU1F1 99.92 1 PPP1CB 99.99 1 PTPN11 99.91 1 RAF1 99.96 1 RASA2 99.59 1 RIT1 99.96 1 RNPC3 99.76 1 ROR2 99.24 1 RRAS2 99.60 1 SHOC2 99.81 1 SHOX 94.81 1 SMARCA4 99.98 1 SMARCB1 100.00 1 SOS1 99.81 1 SOS2 99.70 1 SOX3 97.93 1 SPRED2 99.96 1 SRCAP 99.97 1 STAT5B 99.94 1 TOP3A 99.95 1 TRIM37 99.81 1 WNT5A 99.96 1 YY1 99.63 1 -
Hearing loss (deafness) (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD12 99.11 1 ACTG1 100.00 1 ADCY1 98.44 1 ADGRV1 99.88 1 AIFM1 99.43 1 ATOH1 100.00 1 ATP11A 99.99 1 ATP2B2 99.96 1 ATP6V0A4 99.83 1 ATP6V1B1 99.92 1 ATP6V1B2 99.91 1 BDP1 99.89 1 BSND 100.00 1 CABP2 99.99 1 CACNA1D 99.94 1 CCDC50 99.92 1 CD164 99.92 1 CDC14A 99.95 1 CDH23 99.95 1 CEACAM16 99.92 1 CEP250 99.98 1 CEP78 99.83 1 CHD7 99.96 1 CIB2 99.99 1 CISD2 99.95 1 CLDN14 100.00 1 CLIC5 99.98 1 CLPP 100.00 1 CLRN1 99.97 1 COCH 99.90 1 COL11A1 99.89 1 COL11A2 99.35 1 COL2A1 100.00 1 COL4A3 99.94 1 COL4A4 99.96 1 COL4A5 99.18 1 COL4A6 99.37 1 COL9A1 99.98 1 COL9A2 99.95 1 COL9A3 99.86 1 CRYL1 99.89 1 CRYM 99.91 1 DCDC2 99.93 1 DIABLO 99.98 1 DIAPH1 97.50 1 DIAPH3 99.86 1 DMXL2 99.40 1 DNAAF10 99.97 1 EDN3 100.00 1 EDNRB 99.94 1 ELMOD3 100.00 1 EPHA10 97.51 1 EPS8 99.87 1 EPS8L2 99.87 1 ERAL1 99.97 1 ESPN 96.05 1 ESRP1 99.81 1 ESRRB 100.00 1 EYA1 99.93 1 EYA4 99.98 1 FDXR 99.98 1 FGF3 98.11 1 FOXI1 100.00 1 GATA3 99.89 1 GIPC3 97.45 1 GJB2 100.00 1 GJB3 100.00 1 GJB6 100.00 1 GPSM2 99.94 1 GRHL2 99.95 1 GRXCR1 100.00 1 GRXCR2 99.91 1 GSDME 99.97 1 HARS1 99.99 1 HARS2 99.51 1 HECTD3 99.39 1 HGF 99.96 1 HOMER2 99.74 1 HOXA2 99.93 1 HSD17B4 99.80 1 IFNLR1 99.52 1 ILDR1 99.95 1 KARS1 99.91 1 KCNE1 100.00 1 KCNJ10 100.00 1 KCNQ1 99.87 1 KCNQ4 99.49 1 KITLG 99.87 1 LARS2 99.99 1 LHFPL5 99.99 1 LMX1A 100.00 1 LOXHD1 99.73 1 LRTOMT 99.99 1 MARVELD2 99.96 1 MCM2 99.96 1 MET 99.97 1 MIR96 100.00 1 MITF 99.97 1 MPZL2 99.96 1 MSRB3 99.96 1 MTAP 98.96 1 MYH14 99.79 1 MYH9 100.00 1 MYO15A 99.59 1 MYO3A 99.84 1 MYO6 99.77 1 MYO7A 99.99 1 NARS2 99.94 1 NDP 99.95 1 NLRP3 99.90 1 OSBPL2 100.00 1 OTOA 99.83 1 OTOF 99.95 1 OTOG 99.99 1 OTOGL 99.63 1 P2RX2 99.91 1 PAX3 99.98 1 PCDH15 99.94 1 PDE1C 99.92 1 PDZD7 99.82 1 PI4KB 99.55 1 PJVK 99.79 1 PLS1 99.80 1 PNPT1 99.86 1 POLR1B 99.95 1 POLR1C 97.52 1 POLR1D 99.72 1 POU3F4 99.94 1 POU4F3 100.00 1 PPIP5K2 99.83 1 PRPS1 99.79 1 PTPRQ 99.83 1 RDX 99.80 1 REST 99.96 1 RIPOR2 99.96 1 ROR1 98.58 1 S1PR2 100.00 1 SALL1 99.99 1 SEMA3E 99.97 1 SERPINB6 98.21 1 SIX1 100.00 1 SIX5 99.87 1 SLC12A2 98.96 1 SLC17A8 99.95 1 SLC22A4 99.96 1 SLC26A4 99.95 1 SLC26A5 99.95 1 SLC4A11 99.99 1 SLC7A8 99.99 1 SLITRK6 100.00 1 SMPX 99.37 1 SNAI2 99.98 1 SOX10 100.00 1 SPATC1L 100.00 1 SSBP1 99.99 1 STRC 99.73 1 SYNE4 100.00 1 TBC1D24 99.97 1 TCOF1 99.96 1 TECTA 99.97 1 THRAP3 99.89 1 TIMM8A 99.78 1 TJP2 99.94 1 TMC1 99.83 1 TMEM132E 99.75 1 TMIE 99.95 1 TMPRSS3 99.95 1 TMTC2 99.96 1 TNC 99.97 1 TPRN 90.56 1 TRIOBP 99.09 1 TSPEAR 99.97 1 TWNK 100.00 1 USH1C 98.72 1 USH1G 99.96 1 USH2A 99.95 1 USP48 99.80 1 WBP2 99.86 1 WFS1 100.00 1 WHRN 99.69 1 -
Hereditary Spastic Paraplegia & ataxia (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AMPD2 99.99 1 AP4B1 99.97 1 ATP13A2 99.98 1 CAMTA1 99.97 1 COA7 100.00 1 COQ8A 100.00 1 COX20 99.40 1 DARS2 99.86 1 EIF2B3 99.95 1 FLVCR1 99.93 1 GDAP2 99.96 1 GJC2 96.12 1 HPDL 100.00 1 IBA57 96.45 1 KCNA2 100.00 1 KCND3 100.00 1 MMACHC 99.99 1 MSTO1 98.87 1 PUM1 99.95 1 RNF220 99.95 1 SLC9A1 99.86 1 TMEM240 99.83 1 TOE1 99.99 1 VPS13D 99.85 1 ALDH18A1 99.96 1 CWF19L1 99.89 1 ENTPD1 99.90 1 ERLIN1 99.96 1 NKX6-2 96.38 1 NT5C2 99.89 1 PHYH 99.65 1 POLR3A 99.95 1 ATM 99.83 1 BSCL2 100.00 1 CAPN1 100.00 1 CLP1 100.00 1 FAR1 99.83 1 HIKESHI 99.89 1 MRE11 99.90 1 SCYL1 99.64 1 SPTBN2 99.99 1 TPP1 99.88 1 AAAS 99.98 1 B4GALNT1 99.95 1 EIF2B1 99.96 1 KCNA1 99.96 1 KIF5A 99.93 1 MTRFR 99.85 1 PRICKLE1 99.97 1 SCN8A 99.90 1 VAMP1 99.70 1 ATP7B 99.99 1 ATP8A2 99.96 1 EXOSC8 99.69 1 FGF14 99.79 1 KPNA3 99.96 1 SACS 99.98 1 SPART 99.99 1 AP4S1 87.70 1 ATL1 99.95 1 DDHD1 99.98 1 EIF2B2 99.84 1 GALC 99.88 1 GCH1 99.74 1 GLRX5 98.29 1 IRF2BPL 98.65 1 NPC2 99.99 1 TMEM63C 99.99 1 VRK1 99.94 1 ZFYVE26 99.96 1 AP4E1 99.89 1 CLN6 98.04 1 HEXA 99.98 1 NIPA1 96.26 1 POLG 99.98 1 SPG11 99.94 1 SPG21 99.99 1 TTBK2 99.88 1 WDR73 99.99 1 ARL6IP1 99.84 1 CHMP1A 100.00 1 FA2H 99.93 1 SPG7 99.99 1 STUB1 99.73 1 CACNA1G 99.89 1 COASY 99.98 1 GFAP 99.94 1 GOSR2 99.75 1 KIF1C 99.99 1 NPTX1 99.35 1 PCYT2 97.60 1 TSEN54 98.24 1 VPS53 99.98 1 WDR45B 99.96 1 WDR81 100.00 1 AFG3L2 99.82 1 NPC1 99.84 1 ATCAY 99.99 1 ATP1A3 99.99 1 C19ORF12 99.36 1 CACNA1A 99.66 1 CPT1C 99.99 1 DNMT1 99.88 1 EEF2 99.99 1 KCNC3 94.29 1 MAG 99.81 1 OPA3 100.00 1 PNKP 100.00 1 PNPLA6 99.88 1 PRKCG 99.90 1 RTN2 99.99 1 TUBB4A 98.81 1 ALS2 99.91 1 ATP5MC3 100.00 1 CYP27A1 99.96 1 DARS1 99.87 1 EIF2B4 99.94 1 HSPD1 99.95 1 KIDINS220 99.97 1 KIF1A 99.96 1 MARS2 100.00 1 PGAP1 99.64 1 REEP1 99.99 1 SELENOI 99.88 1 SLC1A4 99.95 1 SPAST 99.83 1 ABHD12 99.11 1 DNAJC5 99.99 1 PDYN 99.98 1 TGM6 100.00 1 ARSA 100.00 1 PLA2G6 99.98 1 ANO10 99.92 1 ATG7 99.98 1 BTD 99.99 1 CACNA2D2 99.32 1 CLCN2 99.97 1 CTNNB1 99.98 1 EIF2B5 99.95 1 ITPR1 99.94 1 OPA1 99.87 1 RUBCN 99.94 1 SLC33A1 99.82 1 TFG 99.34 1 TSEN2 86.92 1 AIMP1 99.90 1 CYP2U1 97.44 1 EXOSC9 99.86 1 GRID2 99.98 1 MTTP 99.96 1 RFC1 99.44 1 SEPSECS 99.84 1 UCHL1 99.99 1 CCT5 99.97 1 FAT2 99.94 1 HEXB 99.91 1 PCDH12 100.00 1 REEP2 100.00 1 SIL1 99.99 1 SLC1A3 99.90 1 SLC25A46 99.93 1 SQSTM1 100.00 1 THG1L 99.95 1 ABHD16A 100.00 1 ARG1 99.98 1 ELOVL4 99.92 1 ELOVL5 99.95 1 FARS2 99.98 1 GRM1 99.87 1 HACE1 99.91 1 PEX7 99.87 1 RARS2 97.34 1 SNX14 99.73 1 SYNE1 99.96 1 TDP2 99.85 1 AP4M1 100.00 1 AP5Z1 99.94 1 COG5 99.92 1 IFRD1 99.96 1 PMPCB 99.98 1 RNF216 99.99 1 SAMD9L 99.98 1 VPS41 99.95 1 CA8 99.97 1 CYP7B1 99.87 1 DDHD2 99.74 1 ERLIN2 99.94 1 GPAA1 99.88 1 RNF170 99.94 1 TTPA 99.97 1 WASHC5 99.90 1 APTX 99.92 1 AUH 99.95 1 EXOSC3 99.98 1 GBA2 99.97 1 INPP5E 99.75 1 PMPCA 99.99 1 SETX 99.96 1 SPTAN1 99.97 1 UBAP1 99.96 1 VLDLR 99.93 1 ABCB7 98.62 1 ABCD1 99.78 1 AIFM1 99.43 1 AP1S2 97.43 1 ATP2B3 99.82 1 CASK 99.40 1 L1CAM 99.90 1 PLP1 99.93 1 -
Intellectual disability (gene panel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.98 1 AARS1 99.94 1 AARS2 100.00 1 AASS 99.89 1 ABAT 99.95 1 ABCA2 100.00 1 ABCC9 99.91 1 ABCD1 100.00 1 ABCD4 99.97 1 ABHD16A 100.00 1 ABHD5 99.95 1 ACAD9 99.96 1 ACADS 100.00 1 ACAT1 99.57 1 ACBD6 99.95 1 ACER3 99.97 1 ACO2 100.00 1 ACOX1 99.87 1 ACSF3 99.98 1 ACSL4 99.48 1 ACTB 100.00 1 ACTG1 100.00 1 ACTL6A 99.98 1 ACTL6B 100.00 1 ACVR1 99.93 1 ACY1 100.00 1 ADAM22 99.93 1 ADAMTS9 99.94 1 ADAR 99.98 1 ADARB1 94.86 1 ADAT3 100.00 1 ADCY5 99.99 1 ADD1 99.98 1 ADD3 99.96 1 ADGRG1 100.00 1 ADGRG6 99.94 1 ADGRL1 100.00 1 ADK 99.89 1 ADNP 99.93 1 ADPRS 100.00 1 ADRA2B 100.00 1 ADSL 99.97 1 AFF2 99.48 1 AFF3 99.99 1 AFF4 99.89 1 AFG3L2 99.94 1 AGA 99.96 1 AGO1 99.96 1 AGO2 99.80 1 AGPS 99.77 1 AGTR2 99.79 1 AHCY 100.00 1 AHDC1 100.00 1 AHI1 99.91 1 AIFM1 99.64 1 AIMP1 99.96 1 AIMP2 99.28 1 AKT3 99.93 1 ALDH18A1 99.97 1 ALDH3A2 99.90 1 ALDH4A1 100.00 1 ALDH5A1 99.95 1 ALDH7A1 99.95 1 ALG1 100.00 1 ALG11 99.95 1 ALG12 100.00 1 ALG13 99.42 1 ALG14 99.98 1 ALG2 99.91 1 ALG3 99.99 1 ALG6 99.95 1 ALG8 96.45 1 ALG9 93.98 1 ALKBH8 99.95 1 ALMS1 99.94 1 ALPL 100.00 1 ALX4 100.00 1 AMACR 99.98 1 AMER1 100.00 1 AMPD2 100.00 1 AMT 100.00 1 ANK2 99.93 1 ANK3 99.93 1 ANKH 99.99 1 ANKLE2 99.90 1 ANKRD11 100.00 1 ANKRD17 99.96 1 ANO10 99.96 1 ANTXR1 99.98 1 AP1B1 100.00 1 AP1G1 99.92 1 AP1S1 100.00 1 AP1S2 99.13 1 AP2M1 99.99 1 AP2S1 100.00 1 AP3B1 99.98 1 AP3B2 99.99 1 AP4B1 99.97 1 AP4E1 99.96 1 AP4M1 99.99 1 AP4S1 87.74 1 APC2 99.98 1 APTX 99.91 1 ARCN1 99.93 1 ARF1 100.00 1 ARFGEF1 99.94 1 ARFGEF2 99.90 1 ARG1 99.99 1 ARHGAP31 99.97 1 ARHGEF2 99.99 1 ARHGEF9 99.78 1 ARID1A 99.97 1 ARID1B 99.57 1 ARID2 99.96 1 ARL13B 93.61 1 ARL3 99.99 1 ARL6 99.97 1 ARMC9 99.94 1 ARPC4 99.84 1 ARSA 100.00 1 ARV1 99.33 1 ARX 99.46 1 ASAH1 99.96 1 ASH1L 99.92 1 ASL 100.00 1 ASNS 99.98 1 ASPA 99.94 1 ASPM 99.93 1 ASS1 100.00 1 ASXL1 99.96 1 ASXL2 99.94 1 ASXL3 99.99 1 ATAD1 99.88 1 ATAD3A 99.97 1 ATG7 99.97 1 ATIC 99.96 1 ATL1 99.91 1 ATM 99.94 1 ATN1 100.00 1 ATP13A2 100.00 1 ATP1A1 99.93 1 ATP1A2 100.00 1 ATP1A3 100.00 1 ATP2A2 99.97 1 ATP2B1 99.91 1 ATP5F1A 99.99 1 ATP5F1D 100.00 1 ATP5PO 99.98 1 ATP6AP2 99.65 1 ATP6V0A1 99.91 1 ATP6V0A2 99.99 1 ATP6V0C 100.00 1 ATP6V1A 99.92 1 ATP6V1B2 99.93 1 ATP7A 99.63 1 ATP8A2 99.97 1 ATP9A 99.98 1 ATR 99.95 1 ATRX 99.52 1 AUH 100.00 1 AUTS2 99.99 1 AVPR2 100.00 1 B3GALNT2 95.48 1 B3GALT6 94.28 1 B3GLCT 99.82 1 B4GALNT1 100.00 1 B4GALT1 99.92 1 B4GALT7 99.91 1 B4GAT1 100.00 1 B9D2 100.00 1 BAP1 99.99 1 BAZ2B 99.95 1 BBS1 99.99 1 BBS10 100.00 1 BBS12 99.92 1 BBS2 99.93 1 BBS4 99.88 1 BBS5 99.96 1 BBS7 99.97 1 BBS9 99.93 1 BCAP31 99.76 1 BCAS3 99.97 1 BCKDHA 100.00 1 BCKDHB 99.97 1 BCKDK 100.00 1 BCL11A 99.98 1 BCL11B 99.93 1 BCOR 99.84 1 BCORL1 99.96 1 BCS1L 100.00 1 BICD2 100.00 1 BICRA 100.00 1 BLM 99.89 1 BLOC1S1 100.00 1 BMP4 99.98 1 BOLA3 100.00 1 BPTF 99.75 1 BRAF 99.89 1 BRAT1 100.00 1 BRD4 100.00 1 BRF1 100.00 1 BRPF1 100.00 1 BRSK2 99.98 1 BRWD3 99.78 1 BSCL2 100.00 1 BTD 99.97 1 BUB1 99.96 1 BUB1B 99.95 1 C12ORF4 99.96 1 C12ORF57 100.00 1 C2CD3 99.95 1 C2orf69 99.94 1 CA2 99.93 1 CA8 99.97 1 CACNA1A 99.99 1 CACNA1B 100.00 1 CACNA1C 99.99 1 CACNA1D 99.94 1 CACNA1E 99.97 1 CACNA1G 100.00 1 CACNA1I 99.93 1 CACNA2D1 99.91 1 CACNA2D2 100.00 1 CAD 99.99 1 CAMK2A 100.00 1 CAMK2B 100.00 1 CAMK2G 97.96 1 CAMK4 99.95 1 CAMSAP1 99.96 1 CAMTA1 99.98 1 CAPN10 100.00 1 CAPN15 100.00 1 CAPRIN1 99.96 1 CAPZA2 99.98 1 CARS1 100.00 1 CARS2 99.56 1 CASK 99.76 1 CASP2 99.98 1 CBL 99.93 1 CBS 100.00 1 CC2D1A 100.00 1 CC2D2A 98.14 1 CCBE1 100.00 1 CCDC115 100.00 1 CCDC174 99.92 1 CCDC186 99.88 1 CCDC22 100.00 1 CCDC32 99.96 1 CCDC47 99.89 1 CCDC78 100.00 1 CCDC82 99.97 1 CCDC88A 99.87 1 CCDC88C 100.00 1 CCND2 100.00 1 CCNK 97.47 1 CDC42 99.98 1 CDC42BPB 99.98 1 CDC6 99.93 1 CDH11 99.97 1 CDH15 100.00 1 CDH2 99.96 1 CDK10 100.00 1 CDK13 99.90 1 CDK19 99.98 1 CDK5RAP2 99.93 1 CDK8 99.95 1 CDKL5 99.64 1 CDON 99.92 1 CDT1 99.35 1 CELF2 99.93 1 CELSR3 100.00 1 CENPF 99.91 1 CENPJ 99.91 1 CEP104 99.92 1 CEP120 99.93 1 CEP135 99.90 1 CEP152 99.96 1 CEP290 99.86 1 CEP41 99.95 1 CEP55 99.94 1 CEP57 99.95 1 CEP63 99.95 1 CEP83 99.82 1 CEP85L 99.94 1 CERS1 99.99 1 CERT1 99.92 1 CHAMP1 99.98 1 CHD1 99.92 1 CHD2 99.93 1 CHD3 99.93 1 CHD4 99.90 1 CHD5 100.00 1 CHD7 99.94 1 CHD8 99.97 1 CHKA 97.76 1 CHKB 99.87 1 CHL1 99.87 1 CHMP1A 100.00 1 CHRNA2 100.00 1 CHRNA4 100.00 1 CHRNB2 99.94 1 CIC 99.97 1 CIT 99.95 1 CKAP2L 99.92 1 CLCN3 99.95 1 CLCN4 99.94 1 CLCN6 99.96 1 CLDN5 100.00 1 CLEC16A 99.94 1 CLIC2 99.87 1 CLIP1 99.93 1 CLN3 100.00 1 CLN5 99.84 1 CLN6 99.88 1 CLN8 100.00 1 CLP1 100.00 1 CLPB 99.99 1 CLTC 99.94 1 CNKSR2 99.57 1 CNNM2 99.99 1 CNOT1 99.92 1 CNOT2 99.98 1 CNOT3 100.00 1 CNOT9 90.66 1 CNPY3 100.00 1 CNTN2 100.00 1 CNTNAP1 100.00 1 CNTNAP2 99.96 1 COA8 99.86 1 COASY 100.00 1 COG1 99.98 1 COG3 99.93 1 COG4 99.97 1 COG5 99.93 1 COG6 99.98 1 COG7 99.94 1 COG8 100.00 1 COL18A1 100.00 1 COL3A1 99.98 1 COL4A1 99.99 1 COL4A2 99.99 1 COLEC11 100.00 1 COLGALT1 98.63 1 COPB1 99.95 1 COPB2 99.94 1 COQ2 99.92 1 COQ4 100.00 1 COQ6 99.90 1 COQ8A 100.00 1 COQ9 99.98 1 COX10 100.00 1 COX15 99.92 1 COX6B1 100.00 1 CPA6 99.98 1 CPE 99.84 1 CPLANE1 99.95 1 CPLX1 100.00 1 CPS1 99.95 1 CPSF3 99.95 1 CPT2 99.99 1 CRADD 99.84 1 CRB2 100.00 1 CRBN 99.96 1 CREBBP 99.96 1 CRIPT 100.00 1 CRMP1 99.96 1 CSDE1 99.97 1 CSF1R 99.99 1 CSNK1G1 99.92 1 CSNK2A1 99.94 1 CSNK2B 100.00 1 CSPP1 99.96 1 CSTB 100.00 1 CTBP1 99.98 1 CTC1 99.99 1 CTCF 99.94 1 CTDP1 99.72 1 CTNNA2 99.96 1 CTNNB1 99.95 1 CTR9 99.97 1 CTSA 100.00 1 CTSD 100.00 1 CTSF 100.00 1 CTTNBP2 99.97 1 CTU2 100.00 1 CUL3 99.94 1 CUL4B 98.84 1 CUX1 99.97 1 CUX2 99.97 1 CWC27 98.42 1 CWF19L1 99.85 1 CYB5R3 99.65 1 CYFIP2 99.96 1 CYP27A1 100.00 1 CYP2U1 99.39 1 CYP7B1 99.87 1 D2HGDH 100.00 1 DAG1 100.00 1 DARS1 99.93 1 DARS2 99.91 1 DBT 99.96 1 DCAF17 99.97 1 DCC 99.94 1 DCHS1 100.00 1 DCPS 100.00 1 DCX 99.89 1 DDB1 99.94 1 DDC 100.00 1 DDHD2 99.87 1 DDOST 100.00 1 DDX11 100.00 1 DDX23 99.98 1 DDX3X 99.83 1 DDX59 99.68 1 DDX6 99.98 1 DEAF1 97.01 1 DEGS1 95.49 1 DENND5A 99.95 1 DEPDC5 99.98 1 DHCR24 100.00 1 DHCR7 100.00 1 DHDDS 99.96 1 DHFR 99.97 1 DHPS 93.34 1 DHTKD1 99.94 1 DHX16 99.99 1 DHX30 99.99 1 DHX37 99.99 1 DHX9 99.95 1 DIAPH1 99.87 1 DIP2B 99.96 1 DIS3L2 99.92 1 DKC1 99.48 1 DLD 99.99 1 DLG3 99.86 1 DLG4 100.00 1 DLL1 100.00 1 DMD 99.72 1 DMPK 100.00 1 DMXL2 99.60 1 DNA2 99.92 1 DNAJA1 99.91 1 DNAJC12 99.99 1 DNAJC19 99.94 1 DNAJC5 100.00 1 DNM1 97.45 1 DNM1L 99.92 1 DNMT3A 100.00 1 DNMT3B 99.97 1 DOCK3 99.93 1 DOCK6 100.00 1 DOCK7 99.93 1 DOCK8 99.97 1 DOHH 100.00 1 DOLK 100.00 1 DONSON 99.85 1 DOT1L 100.00 1 DPAGT1 99.98 1 DPF2 100.00 1 DPH1 100.00 1 DPH2 100.00 1 DPH5 99.94 1 DPM1 97.09 1 DPM3 100.00 1 DPP6 99.95 1 DPYD 99.95 1 DPYS 99.86 1 DPYSL5 100.00 1 DTYMK 85.19 1 DYM 99.93 1 DYNC1H1 99.96 1 DYNC1I2 99.99 1 DYRK1A 99.97 1 EARS2 99.98 1 EBF3 99.98 1 EBP 100.00 1 ECHS1 100.00 1 ECM1 100.00 1 EDEM3 99.83 1 EED 99.96 1 EEF1A2 99.97 1 EEF1B2 99.79 1 EEF2 100.00 1 EFTUD2 99.93 1 EHMT1 99.98 1 EIF2A 99.99 1 EIF2AK1 99.92 1 EIF2AK2 99.90 1 EIF2AK3 99.91 1 EIF2B1 99.95 1 EIF2B2 99.89 1 EIF2B3 99.90 1 EIF2B4 99.94 1 EIF2B5 99.94 1 EIF2S3 99.89 1 EIF3F 99.89 1 EIF4A2 99.95 1 EIF4A3 99.98 1 EIF5A 100.00 1 ELAC2 99.99 1 ELOVL4 99.87 1 ELP2 99.99 1 EMC1 99.94 1 EMC10 100.00 1 EML1 99.99 1 EMX2 99.99 1 ENG 100.00 1 ENTPD1 99.93 1 EP300 99.96 1 EPG5 99.95 1 EPM2A 98.38 1 EPRS1 99.97 1 ERBB4 99.95 1 ERCC1 100.00 1 ERCC2 100.00 1 ERCC3 99.97 1 ERCC5 99.95 1 ERCC6 99.95 1 ERCC6L2 99.96 1 ERCC8 99.98 1 ERLIN2 99.92 1 ESAM 100.00 1 ESCO2 99.71 1 ETFA 99.90 1 ETFB 99.97 1 ETFDH 99.90 1 ETHE1 100.00 1 EXOC3L2 99.31 1 EXOC7 100.00 1 EXOSC2 99.87 1 EXOSC3 99.98 1 EXOSC5 100.00 1 EXOSC9 99.97 1 EXT2 99.95 1 EXTL3 99.99 1 EZH2 99.94 1 FA2H 100.00 1 FAM111A 99.82 1 HYCC1 99.95 1 FAM149B1 99.91 1 FAM20C 99.99 1 FAM50A 100.00 1 FANCL 99.95 1 FAR1 99.97 1 FARS2 99.97 1 FASTKD2 99.97 1 FAT4 99.97 1 FBN1 99.94 1 FBRSL1 99.17 1 FBXL3 99.94 1 FBXL4 99.99 1 FBXO11 99.94 1 FBXO28 99.97 1 FBXO31 99.92 1 FBXW11 99.93 1 FBXW7 99.95 1 FCSK 100.00 1 FDFT1 99.93 1 FGD1 99.99 1 FGF12 99.93 1 FGF13 99.63 1 FGF14 99.93 1 FGFR1 100.00 1 FGFR2 99.91 1 FGFR3 100.00 1 FH 99.93 1 FIBP 100.00 1 FIG4 99.98 1 FITM2 99.96 1 FKRP 100.00 1 FKTN 99.95 1 FLNA 100.00 1 FLVCR1 99.95 1 FLVCR2 99.96 1 FMN2 99.97 1 FMR1 99.69 1 FOLR1 100.00 1 FOXG1 100.00 1 FOXP1 99.93 1 FOXP2 99.98 1 FOXP4 100.00 1 FOXRED1 100.00 1 FRA10AC1 99.91 1 FRAS1 99.96 1 FRMD5 99.99 1 FRMPD4 99.85 1 FRRS1L 99.90 1 FSD1L 99.91 1 FTCD 99.97 1 FTO 93.41 1 FTSJ1 99.97 1 FUCA1 99.91 1 FUT8 99.94 1 FZR1 100.00 1 GABBR1 100.00 1 GABBR2 100.00 1 GABRA1 99.96 1 GABRA2 99.96 1 GABRA3 99.52 1 GABRA5 99.97 1 GABRB1 99.97 1 GABRB2 99.91 1 GABRB3 99.95 1 GABRD 98.14 1 GABRG2 99.15 1 GAD1 99.95 1 GAD2 99.84 1 GALC 99.97 1 GALE 100.00 1 GALNT2 100.00 1 GALT 100.00 1 GAMT 100.00 1 GATAD2B 99.99 1 GATM 99.99 1 GBA1 100.00 1 GCDH 100.00 1 GCH1 99.96 1 GCSH 99.96 1 GDF11 99.93 1 GDI1 100.00 1 GEMIN5 99.96 1 GFAP 100.00 1 GFER 100.00 1 GFM1 99.92 1 GFM2 96.99 1 GIGYF1 100.00 1 GJB1 100.00 1 GJC2 99.80 1 GK 99.65 1 GLB1 99.97 1 GLDC 99.92 1 GLI2 99.99 1 GLI3 99.98 1 GLIS3 99.98 1 GLRA1 99.94 1 GLRA2 99.57 1 GLRB 99.98 1 GLS 99.94 1 GLUD1 100.00 1 GLUL 99.94 1 GLYCTK 100.00 1 GM2A 99.99 1 GMPPA 100.00 1 GMPPB 100.00 1 GNAI1 99.97 1 GNAO1 100.00 1 GNAS 100.00 1 GNB1 99.99 1 GNB2 100.00 1 GNB5 99.99 1 GNE 99.96 1 GNPAT 99.88 1 GNPTAB 99.93 1 GNPTG 99.64 1 GNS 99.93 1 GOLGA2 99.98 1 GOSR2 99.88 1 GOT2 99.94 1 GPAA1 100.00 1 GPC3 99.48 1 GPC4 99.81 1 GPHN 99.93 1 GPSM2 99.91 1 GPT2 99.35 1 GRIA1 99.81 1 GRIA2 99.92 1 GRIA3 98.63 1 GRIA4 99.94 1 GRID2 99.96 1 GRIK2 99.89 1 GRIN1 100.00 1 GRIN2A 99.90 1 GRIN2B 99.94 1 GRIN2D 100.00 1 GRIPAP1 99.98 1 GRM1 99.99 1 GRM7 99.97 1 GRN 100.00 1 GSS 99.97 1 GSX2 100.00 1 GTF2E2 97.39 1 GTF2H5 100.00 1 GTF3C3 99.91 1 GTPBP2 99.97 1 GTPBP3 100.00 1 GUSB 100.00 1 H1-4 100.00 1 H3-3A 99.98 1 H3-3B 100.00 1 H4C11 100.00 1 H4C3 100.00 1 H4C4 100.00 1 H4C5 100.00 1 H4C6 100.00 1 H4C9 100.00 1 HACE1 99.96 1 HADH 99.94 1 HADHA 99.95 1 HAX1 99.83 1 HCCS 99.74 1 HCFC1 100.00 1 HCN1 99.98 1 HCN2 91.06 1 HDAC4 100.00 1 HDAC6 99.97 1 HDAC8 99.73 1 HEATR5B 99.96 1 HECTD4 99.92 1 HECW2 99.98 1 HEPACAM 100.00 1 HERC1 99.96 1 HERC2 99.99 1 HESX1 99.90 1 HEXA 99.99 1 HEXB 99.97 1 HGSNAT 97.21 1 HIBCH 99.92 1 HID1 100.00 1 HIVEP2 99.98 1 HK1 96.86 1 HLCS 96.57 1 HMGB1 99.93 1 HMGCL 99.96 1 HNMT 99.98 1 HNRNPC 99.96 1 HNRNPH1 99.97 1 HNRNPH2 99.88 1 HNRNPK 99.98 1 HNRNPR 99.95 1 HNRNPU 99.92 1 HOXA1 100.00 1 HPD 100.00 1 HPDL 100.00 1 HPRT1 99.50 1 HRAS 100.00 1 HS2ST1 99.87 1 HSD17B10 99.99 1 HSD17B4 99.93 1 HSPA9 99.91 1 HSPD1 99.98 1 HTRA2 99.94 1 HUWE1 99.80 1 HYLS1 99.83 1 IARS1 99.86 1 IARS2 99.95 1 IBA57 99.50 1 ICE1 99.96 1 IDH2 99.96 1 IDS 99.91 1 IDUA 99.88 1 IER3IP1 100.00 1 IFIH1 99.94 1 IFT172 99.92 1 IFT27 100.00 1 IGBP1 99.92 1 IGF1 99.92 1 IGF1R 99.98 1 IGSF1 99.74 1 IKBKG 100.00 1 IL1RAPL1 99.81 1 IMPA1 99.97 1 INPP5E 100.00 1 INPP5K 100.00 1 INTS1 100.00 1 INTS11 100.00 1 INTS8 99.93 1 IQSEC1 96.46 1 IQSEC2 98.69 1 IQSEC3 100.00 1 IREB2 99.97 1 IRF2BPL 99.74 1 IRX5 99.97 1 ISCA1 100.00 1 ITFG2 99.99 1 ITGA7 100.00 1 ITPA 100.00 1 ITPR1 99.95 1 ITSN1 99.94 1 IVD 100.00 1 JAG1 99.97 1 JAM3 99.93 1 JARID2 99.98 1 JMJD1C 99.97 1 KANK1 99.99 1 KANSL1 99.97 1 KARS1 99.88 1 KAT5 100.00 1 KAT6A 99.97 1 KAT6B 99.94 1 KAT8 100.00 1 KATNB1 100.00 1 KCNA1 99.93 1 KCNA2 100.00 1 KCNA3 99.99 1 KCNA4 100.00 1 KCNA6 100.00 1 KCNB1 99.98 1 KCNC1 100.00 1 KCNC2 99.94 1 KCNC3 99.25 1 KCND2 99.99 1 KCND3 100.00 1 KCNH1 99.90 1 KCNH5 99.92 1 KCNJ10 100.00 1 KCNJ11 100.00 1 KCNJ6 99.98 1 KCNK4 100.00 1 KCNK9 100.00 1 KCNMA1 99.93 1 KCNN2 99.97 1 KCNN3 100.00 1 KCNQ2 100.00 1 KCNQ3 99.87 1 KCNQ5 99.90 1 KCNT1 100.00 1 KCNT2 99.95 1 KCTD3 100.00 1 KCTD7 100.00 1 KDM1A 99.93 1 KDM2B 99.98 1 KDM3B 99.92 1 KDM4B 100.00 1 KDM5A 99.94 1 KDM5B 97.65 1 KDM5C 99.02 1 KDM6A 99.67 1 KDM6B 100.00 1 KIAA0586 95.67 1 KIAA1109 99.95 1 KIDINS220 99.96 1 KIF11 99.96 1 KIF14 99.93 1 KIF1A 100.00 1 KIF21B 100.00 1 KIF26A 99.83 1 KIF2A 99.96 1 KIF4A 99.72 1 KIF5A 99.98 1 KIF5B 99.89 1 KIF5C 99.98 1 KIF7 99.99 1 KIFBP 99.95 1 KIRREL3 100.00 1 KLF7 100.00 1 KLHL15 99.70 1 KLHL20 99.95 1 KLHL7 99.96 1 KMT2A 99.80 1 KMT2B 99.51 1 KMT2C 99.95 1 KMT2D 100.00 1 KMT2E 99.93 1 KMT5B 99.96 1 KNL1 98.60 1 KPTN 100.00 1 KRAS 99.97 1 KRIT1 99.95 1 L1CAM 100.00 1 L2HGDH 99.89 1 LAGE3 100.00 1 LAMA1 99.96 1 LAMA2 99.96 1 LAMA5 99.91 1 LAMB1 99.96 1 LAMC3 99.86 1 LAMP2 99.59 1 LARGE1 100.00 1 LARP7 99.69 1 LARS1 99.87 1 LAS1L 99.96 1 LEO1 99.97 1 LETM1 99.48 1 LGI1 99.97 1 LGI3 100.00 1 LGI4 100.00 1 LHX2 100.00 1 LIAS 99.97 1 LIG3 99.98 1 LIG4 99.94 1 LINGO1 100.00 1 LINS1 99.96 1 LIPT2 100.00 1 LMAN2L 99.97 1 LMBRD2 99.95 1 LMNB1 99.95 1 LMNB2 99.38 1 LNPK 94.02 1 LONP1 100.00 1 LRP2 99.94 1 LRPPRC 99.95 1 LSS 100.00 1 LYRM7 99.74 1 LZTFL1 99.99 1 LZTR1 100.00 1 MAB21L1 100.00 1 MAB21L2 100.00 1 MACF1 99.94 1 MADD 99.93 1 MAF 95.78 1 MAG 100.00 1 MAGEL2 100.00 1 MAGT1 99.62 1 MAN1B1 99.98 1 MAN2B1 100.00 1 MAN2C1 100.00 1 MANBA 99.93 1 MAOA 98.54 1 MAP1B 99.91 1 MAP2K1 99.99 1 MAP2K2 100.00 1 MAPK1 99.81 1 MAPK8IP3 100.00 1 MAPKAPK5 99.91 1 MAPRE2 99.95 1 MARS1 99.93 1 MASP1 99.97 1 MAST1 100.00 1 MAST3 100.00 1 MAT1A 100.00 1 MBD5 99.94 1 MBOAT7 100.00 1 MBTPS2 99.67 1 MCCC1 99.95 1 MCCC2 99.95 1 MCM3AP 99.96 1 MCOLN1 100.00 1 MCPH1 94.66 1 MDH2 100.00 1 MECP2 99.93 1 MED11 100.00 1 MED12 99.90 1 MED12L 99.94 1 MED13 99.94 1 MED13L 99.94 1 MED17 99.89 1 MED23 99.97 1 MED25 100.00 1 MED27 99.92 1 MEF2C 99.93 1 MEGF8 99.96 1 MEIS2 99.93 1 METTL23 99.98 1 METTL5 99.95 1 MFF 99.87 1 MFSD2A 99.98 1 MFSD8 99.99 1 MGAT2 99.93 1 MGP 99.81 1 MICU1 99.98 1 MID1 99.90 1 MINPP1 99.96 1 MKKS 99.95 1 MKS1 99.93 1 MLC1 100.00 1 MLYCD 99.94 1 MMAA 99.95 1 MMAB 99.96 1 MMACHC 100.00 1 MMADHC 99.96 1 MMUT 99.94 1 MN1 100.00 1 MOCS1 100.00 1 MOCS2 99.94 1 MOGS 99.92 1 MORC2 99.96 1 MPDU1 100.00 1 MPDZ 99.95 1 MPLKIP 99.97 1 MRPS22 99.97 1 MRPS34 100.00 1 MSL3 99.78 1 MSMO1 99.95 1 MTFMT 99.85 1 MTHFR 100.00 1 MTHFS 100.00 1 MTO1 91.24 1 MTOR 99.95 1 MTR 99.94 1 MTRFR 99.76 1 MTRR 99.98 1 MTSS2 99.99 1 MVK 100.00 1 MYCBP2 99.94 1 MYCN 99.97 1 MYH10 99.96 1 MYH9 100.00 1 MYO5A 99.93 1 MYT1L 99.99 1 NAA10 100.00 1 NAA15 99.93 1 NAA20 99.99 1 NACC1 100.00 1 NAE1 99.93 1 NAGA 100.00 1 NAGLU 99.98 1 NALCN 99.94 1 NANS 100.00 1 NAPB 99.99 1 NARS1 99.79 1 NARS2 99.95 1 NAXD 100.00 1 NAXE 100.00 1 NBEA 99.93 1 NBN 99.98 1 NCAPD2 99.95 1 NCAPG2 99.96 1 NCDN 100.00 1 NCKAP1 99.98 1 NDE1 100.00 1 NDP 99.91 1 NDST1 100.00 1 NDUFA1 100.00 1 NDUFA11 98.04 1 NDUFA12 99.96 1 NDUFA2 100.00 1 NDUFA6 100.00 1 NDUFAF2 99.75 1 NDUFAF3 100.00 1 NDUFAF5 99.95 1 NDUFAF6 99.91 1 NDUFAF8 100.00 1 NDUFS1 99.96 1 NDUFS2 99.86 1 NDUFS3 99.98 1 NDUFS4 99.98 1 NDUFS7 100.00 1 NDUFS8 100.00 1 NDUFV1 100.00 1 NDUFV2 99.94 1 NECAP1 99.93 1 NEDD4L 99.94 1 NEMF 99.93 1 NEU1 100.00 1 NEUROD2 99.96 1 NEXMIF 99.74 1 NF1 99.92 1 NF2 99.95 1 NFASC 100.00 1 NFIA 99.88 1 NFIB 99.85 1 NFIX 99.97 1 NFU1 99.86 1 NGLY1 99.95 1 NHLRC1 100.00 1 NHLRC2 99.90 1 NHS 99.81 1 NIPA1 99.97 1 NIPBL 99.89 1 NKAP 99.62 1 NKX2-1 100.00 1 NLGN3 100.00 1 NLGN4X 99.93 1 NONO 99.89 1 NOVA2 99.39 1 NPC1 99.96 1 NPC2 99.98 1 NPHP1 99.89 1 NPRL2 100.00 1 NPRL3 100.00 1 NR1I3 99.99 1 NR2F1 99.58 1 NR2F2 99.87 1 NR4A2 99.94 1 NRAS 99.90 1 NRCAM 99.92 1 NRROS 100.00 1 NRXN1 99.94 1 NSD1 99.91 1 NSD2 99.97 1 NSDHL 99.89 1 NSMCE2 99.97 1 NSRP1 99.89 1 NSUN2 99.93 1 NSUN6 99.94 1 NT5C2 99.96 1 NTNG2 99.88 1 NTRK1 100.00 1 NTRK2 99.99 1 NUBPL 100.00 1 NUDT2 99.73 1 NUP107 99.82 1 NUP188 99.95 1 NUP214 99.95 1 NUP62 100.00 1 NUP85 100.00 1 NUS1 99.98 1 OCLN 99.97 1 OCRL 99.64 1 ODC1 99.95 1 OFD1 99.62 1 OGDH 99.97 1 OGDHL 100.00 1 OGT 99.73 1 OPHN1 98.20 1 ORC1 99.95 1 OSGEP 99.83 1 OTC 99.50 1 OTUD5 99.29 1 OTUD6B 99.96 1 OTX2 100.00 1 OXR1 99.96 1 P4HTM 99.28 1 PACS1 99.98 1 PACS2 99.97 1 PAFAH1B1 99.95 1 PAH 99.94 1 PAK1 99.91 1 PAK3 99.43 1 PALS1 99.94 1 PANK2 99.96 1 PANX1 99.97 1 PARN 99.98 1 PARS2 99.99 1 PAX1 99.70 1 PAX5 100.00 1 PAX6 99.92 1 PAX8 100.00 1 PBX1 99.95 1 PC 100.00 1 PCCA 99.97 1 PCCB 99.95 1 PCDH12 100.00 1 PCDH19 99.97 1 PCDHGC4 99.99 1 PCGF2 100.00 1 PCNT 99.99 1 PCYT2 99.95 1 PDCD10 99.99 1 PDE2A 100.00 1 PDE4D 99.94 1 PDGFRB 99.99 1 PDHA1 99.82 1 PDHB 100.00 1 PDHX 99.89 1 PDP1 99.92 1 PDSS1 93.87 1 PDSS2 99.82 1 PDZD8 99.96 1 PEPD 100.00 1 PET100 100.00 1 PEX1 99.98 1 PEX10 100.00 1 PEX11B 99.98 1 PEX12 99.96 1 PEX13 99.90 1 PEX14 99.98 1 PEX16 100.00 1 PEX19 99.92 1 PEX2 100.00 1 PEX26 100.00 1 PEX3 99.96 1 PEX5 99.95 1 PEX6 100.00 1 PEX7 99.96 1 PGAP1 99.86 1 PGAP2 100.00 1 PGAP3 99.92 1 PGK1 99.83 1 PGM2L1 99.98 1 PGM3 99.95 1 PHACTR1 99.95 1 PHF21A 99.96 1 PHF6 97.98 1 PHF8 99.85 1 PHGDH 99.97 1 PHIP 99.96 1 PI4K2A 99.98 1 PI4KA 99.82 1 PIBF1 99.90 1 PIDD1 100.00 1 PIGA 99.55 1 PIGB 99.99 1 PIGC 99.95 1 PIGG 99.97 1 PIGH 100.00 1 PIGK 99.98 1 PIGL 99.99 1 PIGN 99.90 1 PIGO 99.99 1 PIGP 99.91 1 PIGQ 100.00 1 PIGS 99.99 1 PIGT 99.97 1 PIGU 99.87 1 PIGV 99.97 1 PIGW 99.99 1 PIGY 100.00 1 PIK3C2B 99.97 1 PIK3CA 99.93 1 PIK3R2 97.74 1 PIP5K1C 100.00 1 PLA2G6 100.00 1 PLAA 99.96 1 PLCB1 99.94 1 PLK4 99.97 1 PLP1 99.91 1 PLPBP 99.95 1 PLXNA1 100.00 1 PLXNA3 100.00 1 PMM2 99.92 1 PMPCA 99.99 1 PMPCB 99.98 1 PNKP 100.00 1 PNP 99.94 1 PNPLA6 100.00 1 PNPLA8 99.94 1 PNPO 99.99 1 PNPT1 99.95 1 POGZ 99.91 1 POLA1 99.50 1 POLG 99.99 1 POLR1C 97.49 1 POLR1D 99.89 1 POLR2A 99.99 1 POLR3A 99.91 1 POLR3B 99.94 1 POLRMT 100.00 1 POMGNT1 100.00 1 POMGNT2 100.00 1 POMK 99.97 1 POMT1 99.97 1 POMT2 99.92 1 PORCN 100.00 1 POU1F1 99.95 1 POU3F2 100.00 1 POU3F3 99.90 1 PPFIA3 100.00 1 PPFIBP1 99.94 1 PPIL1 100.00 1 PPM1D 99.98 1 PPOX 99.98 1 PPP1CB 99.98 1 PPP1R12A 99.96 1 PPP1R15B 99.97 1 PPP1R21 99.83 1 PPP2CA 99.96 1 PPP2R1A 100.00 1 PPP2R5D 99.98 1 PPP3CA 99.94 1 PPT1 99.98 1 PQBP1 100.00 1 PRDM13 100.00 1 PRICKLE1 99.94 1 PRICKLE2 99.99 1 PRKACA 99.99 1 PRKACB 99.99 1 PRKAR1A 99.98 1 PRKAR1B 100.00 1 PRKD1 99.94 1 PRMT7 99.98 1 PRODH 100.00 1 PRORP 99.96 1 PRPF8 99.99 1 PRPS1 99.87 1 PRR12 100.00 1 PRRT2 100.00 1 PRSS12 99.97 1 PRUNE1 99.95 1 PSAP 99.98 1 PSAT1 99.98 1 PSMC3 100.00 1 PSMD12 99.96 1 PSPH 99.85 1 PTCH1 99.98 1 PTCHD1 99.75 1 PTDSS1 99.97 1 PTEN 99.96 1 PTF1A 99.89 1 PTPA 99.98 1 PTPN11 99.88 1 PTPN12 99.91 1 PTPN23 100.00 1 PTPN4 99.91 1 PTRH2 99.94 1 PTRHD1 99.95 1 PTS 99.75 1 PUF60 100.00 1 PUM1 99.98 1 PURA 99.99 1 PUS1 99.97 1 PUS3 99.94 1 PUS7 99.90 1 PYCR1 100.00 1 PYCR2 100.00 1 QARS1 99.99 1 QDPR 99.90 1 QRICH1 99.99 1 RAB11A 99.97 1 RAB11B 100.00 1 RAB18 99.97 1 RAB23 99.95 1 RAB27A 99.48 1 RAB39B 99.97 1 RAB3GAP1 99.97 1 RAB3GAP2 99.94 1 RAB40AL 100.00 1 RAB5C 99.97 1 RABGAP1 99.94 1 RAC1 99.99 1 RAC3 99.47 1 RAD21 99.96 1 RAF1 99.95 1 RAI1 100.00 1 RALA 99.93 1 RALGAPA1 99.90 1 RALGAPB 99.95 1 RAP1GDS1 99.91 1 RARB 99.94 1 RARS1 99.64 1 RARS2 97.36 1 RBBP8 99.95 1 RBL2 99.95 1 RBM10 100.00 1 RBM28 99.97 1 RCBTB1 99.90 1 RECQL4 99.86 1 RELN 99.94 1 RERE 99.98 1 RFT1 99.89 1 RFX3 99.96 1 RFX4 99.90 1 RFX7 99.98 1 RHEB 99.87 1 RHOBTB2 100.00 1 RIMS2 99.94 1 RIN2 99.96 1 RIT1 99.92 1 RLIM 99.84 1 RMND1 99.94 1 RNASEH2A 100.00 1 RNASEH2B 99.89 1 RNASEH2C 100.00 1 RNASET2 99.99 1 RNF113A 99.98 1 RNF125 99.96 1 RNF13 99.86 1 RNPC3 99.93 1 RNU7-1 0.00 1 ROGDI 100.00 1 ROR2 99.98 1 RORA 99.98 1 RORB 99.92 1 RPGRIP1L 98.82 1 RPH3A 99.99 1 RPIA 99.97 1 RPL10 99.96 1 RPS6KA3 98.44 1 RRAGC 99.92 1 RRAS2 99.96 1 RRM2B 99.92 1 RSPRY1 99.95 1 RSRC1 99.88 1 RTEL1 100.00 1 RTN4IP1 99.90 1 RTTN 99.93 1 RUBCN 99.98 1 RUSC2 100.00 1 RXYLT1 99.94 1 SALL1 99.99 1 SAMD9 99.96 1 SAMHD1 99.99 1 SARS1 99.99 1 SASS6 99.86 1 SATB1 99.95 1 SATB2 99.94 1 SBDS 99.98 1 SC5D 99.95 1 SCAF4 99.97 1 SCAMP5 100.00 1 SCAPER 99.93 1 SCARB2 99.95 1 SCN1A 99.93 1 SCN1B 100.00 1 SCN2A 99.94 1 SCN3A 99.95 1 SCN8A 99.89 1 SCO1 99.95 1 SCO2 100.00 1 SCYL1 100.00 1 SDCCAG8 99.98 1 SDHA 99.98 1 SDHAF1 100.00 1 SEMA3E 99.95 1 SEMA6B 100.00 1 SEPSECS 99.90 1 SERAC1 99.94 1 SERPINI1 99.91 1 SET 98.41 1 SETBP1 99.98 1 SETD1A 100.00 1 SETD1B 99.90 1 SETD2 99.89 1 SETD5 99.87 1 SGPL1 99.88 1 SGSH 100.00 1 SGSM3 100.00 1 SHANK1 100.00 1 SHANK2 100.00 1 SHANK3 97.26 1 SHH 100.00 1 SHMT2 100.00 1 SHOC2 99.89 1 SHQ1 99.97 1 SHROOM4 99.95 1 SIAH1 99.88 1 SIK1 100.00 1 SIL1 99.99 1 SIN3A 99.93 1 SIN3B 99.43 1 SIX3 100.00 1 SKI 100.00 1 SLC12A2 99.90 1 SLC12A5 100.00 1 SLC12A6 99.86 1 SLC13A5 100.00 1 SLC16A2 99.92 1 SLC17A5 99.90 1 SLC18A2 99.94 1 SLC19A3 99.97 1 SLC1A1 99.92 1 SLC1A2 99.84 1 SLC1A4 99.98 1 SLC25A1 99.63 1 SLC25A12 99.98 1 SLC25A15 99.94 1 SLC25A22 100.00 1 SLC25A24 99.38 1 SLC25A42 100.00 1 SLC25A46 99.94 1 SLC2A1 100.00 1 SLC32A1 100.00 1 SLC33A1 99.90 1 SLC35A1 99.97 1 SLC35A2 100.00 1 SLC35A3 99.94 1 SLC35C1 100.00 1 SLC38A3 100.00 1 SLC39A14 93.58 1 SLC39A8 98.49 1 SLC45A1 100.00 1 SLC46A1 100.00 1 SLC4A4 99.91 1 SLC6A1 99.99 1 SLC6A17 100.00 1 SLC6A19 100.00 1 SLC6A3 100.00 1 SLC6A8 99.88 1 SLC6A9 100.00 1 SLC7A3 99.84 1 SLC7A5 100.00 1 SLC7A6OS 100.00 1 SLC7A7 99.95 1 SLC9A6 98.03 1 SLC9A7 99.38 1 SMAD4 99.94 1 SMAD6 100.00 1 SMARCA1 98.94 1 SMARCA2 99.92 1 SMARCA4 100.00 1 SMARCA5 99.85 1 SMARCB1 100.00 1 SMARCC2 99.95 1 SMARCD1 99.97 1 SMARCD2 97.99 1 SMARCE1 99.94 1 SMC1A 99.85 1 SMC3 99.92 1 SMG8 99.96 1 SMG9 99.99 1 SMO 99.99 1 SMOC1 99.97 1 SMPD1 100.00 1 SMPD4 100.00 1 SMS 99.62 1 SNAP25 99.83 1 SNAP29 100.00 1 SNAPC4 100.00 1 SNIP1 99.96 1 SNRPB 100.00 1 SNRPN 99.99 1 SNX14 99.93 1 SNX27 99.84 1 SOBP 99.36 1 SON 99.97 1 SOS1 99.89 1 SOS2 99.92 1 SOX10 100.00 1 SOX11 100.00 1 SOX2 99.98 1 SOX3 99.99 1 SOX4 99.75 1 SOX5 99.97 1 SOX6 99.94 1 SOX9 100.00 1 SPART 99.97 1 SPAST 100.00 1 AFG2A 99.96 1 SPATA5L1 99.96 1 SPECC1L 99.88 1 SPEN 99.97 1 SPG11 99.98 1 SPOP 99.84 1 SPR 100.00 1 SPRED1 99.91 1 SPRED2 99.94 1 SPTAN1 99.98 1 SPTBN1 99.97 1 SPTBN2 100.00 1 SPTBN4 99.99 1 SPTLC2 99.93 1 SQSTM1 100.00 1 SRCAP 99.99 1 SRD5A3 99.97 1 SREBF1 99.95 1 SRGAP3 99.98 1 SRPX2 99.94 1 SRRM2 99.97 1 SRSF1 99.96 1 SSR4 100.00 1 ST3GAL3 99.98 1 ST3GAL5 99.88 1 STAG1 99.93 1 STAG2 96.85 1 STAMBP 99.97 1 STEEP1 99.48 1 STIL 99.94 1 STRA6 100.00 1 STRADA 99.91 1 STT3A 99.93 1 STT3B 99.97 1 STX1A 100.00 1 STX1B 100.00 1 STXBP1 99.94 1 SUCLA2 99.95 1 SUCLG1 99.92 1 SUFU 99.99 1 SUMF1 99.99 1 SUOX 100.00 1 SUPT16H 99.98 1 SURF1 99.86 1 SUZ12 99.92 1 SVBP 100.00 1 SYN1 99.91 1 SYNCRIP 99.94 1 SYNE1 99.96 1 SYNGAP1 100.00 1 SYNJ1 99.90 1 SYP 100.00 1 SYT1 99.90 1 SYT14 95.80 1 SZT2 100.00 1 TAF1 99.70 1 TAF13 99.96 1 TAF2 99.95 1 TAF4 86.64 1 TAF6 100.00 1 TAF8 99.99 1 TAFAZZIN 99.92 1 TANC2 99.95 1 TANGO2 100.00 1 TAOK1 99.97 1 TARS2 99.94 1 TASP1 99.95 1 TAT 99.98 1 TBC1D20 99.95 1 TBC1D23 99.95 1 TBC1D24 100.00 1 TBC1D2B 99.77 1 TBC1D7 99.92 1 TBCD 99.99 1 TBCE 99.92 1 TBCK 99.91 1 TBL1XR1 99.99 1 TBR1 99.97 1 TBX1 98.28 1 TCEAL1 99.95 1 TCF20 100.00 1 TCF4 99.88 1 TCF7L2 100.00 1 TCN2 100.00 1 TCTN1 94.52 1 TCTN2 99.86 1 TCTN3 99.90 1 TDP2 99.88 1 TECPR2 99.97 1 TECR 100.00 1 TELO2 100.00 1 TENM3 99.89 1 TET3 99.98 1 TFAP2A 99.99 1 TFE3 99.97 1 TGFBR1 99.94 1 TGIF1 100.00 1 TH 100.00 1 THG1L 99.92 1 THOC2 99.50 1 THOC6 100.00 1 THRB 99.87 1 THUMPD1 99.90 1 TIAM1 99.98 1 TIMM50 100.00 1 TIMM8A 99.95 1 TINF2 99.93 1 TK2 100.00 1 TKFC 100.00 1 TKT 98.57 1 TLK2 99.81 1 TMCO1 99.91 1 TMEM106B 100.00 1 TMEM147 100.00 1 TMEM161B 93.83 1 TMEM165 99.96 1 TMEM216 100.00 1 TMEM218 99.87 1 TMEM222 100.00 1 TMEM231 99.97 1 TMEM237 99.91 1 TMEM240 100.00 1 TMEM63B 100.00 1 TMEM67 99.38 1 TMEM70 100.00 1 TMEM94 100.00 1 TMLHE 99.37 1 TMTC3 99.95 1 TMX2 99.95 1 TNIK 99.94 1 TNPO2 100.00 1 TNR 99.98 1 TNRC6B 99.96 1 TOE1 99.99 1 TOR1A 99.91 1 TP53RK 99.89 1 TPP1 100.00 1 TPP2 99.91 1 TRA2B 99.98 1 TRAF7 100.00 1 TRAIP 99.95 1 TRAK1 99.97 1 TRAPPC10 99.98 1 TRAPPC11 99.83 1 TRAPPC12 100.00 1 TRAPPC2L 100.00 1 TRAPPC4 99.96 1 TRAPPC6B 99.94 1 TRAPPC9 99.97 1 TREX1 100.00 1 TRIM32 100.00 1 TRIM8 100.00 1 TRIO 99.45 1 TRIP12 99.95 1 TRIT1 99.93 1 TRMT1 100.00 1 TRMT10A 99.96 1 TRPM3 99.96 1 TRPM6 99.96 1 TRRAP 99.98 1 TSC1 99.97 1 TSC2 100.00 1 TSEN15 99.98 1 TSEN2 86.91 1 TSEN34 100.00 1 TSEN54 99.62 1 TSFM 94.09 1 TSHB 99.98 1 TSPAN7 99.97 1 TSPOAP1 100.00 1 TTC19 99.93 1 SKIC3 99.98 1 TTC5 99.93 1 TTC8 99.98 1 TTI1 99.96 1 TTI2 99.99 1 TUBA1A 100.00 1 TUBA8 100.00 1 TUBB 100.00 1 TUBB2A 100.00 1 TUBB2B 100.00 1 TUBB3 100.00 1 TUBB4A 99.90 1 TUBG1 99.99 1 TUBGCP2 96.93 1 TUBGCP4 99.87 1 TUBGCP6 100.00 1 TUSC3 99.95 1 TWIST1 100.00 1 U2AF2 100.00 1 UBA5 99.99 1 UBAP2L 99.95 1 UBE2A 99.40 1 UBE3A 99.93 1 UBE3B 99.95 1 UBE3C 99.91 1 UBE4A 99.88 1 UBR1 99.94 1 UBR7 99.87 1 UBTF 99.99 1 UFC1 99.88 1 UFM1 100.00 1 UFSP2 99.93 1 UGDH 99.97 1 UGP2 99.92 1 UNC79 99.94 1 UNC80 99.94 1 UPB1 100.00 1 UPF3A 86.57 1 UPF3B 99.25 1 UROC1 100.00 1 USP18 100.00 1 USP27X 99.94 1 USP7 99.97 1 USP9X 99.46 1 VAC14 100.00 1 VAMP1 100.00 1 VAMP2 100.00 1 VARS1 100.00 1 VARS2 100.00 1 VCP 99.96 1 VLDLR 99.93 1 VPS11 99.98 1 VPS13B 99.26 1 VPS37A 99.94 1 VPS4A 100.00 1 VPS50 99.92 1 VPS51 100.00 1 VPS53 99.97 1 VRK1 99.92 1 VWA3B 99.96 1 WAC 99.93 1 WARS1 99.87 1 WARS2 99.98 1 WASF1 99.95 1 WASHC4 99.77 1 WBP11 99.95 1 WBP4 99.95 1 WDFY3 99.95 1 WDPCP 91.90 1 WDR11 99.96 1 WDR13 99.99 1 WDR19 99.90 1 WDR26 99.39 1 WDR37 99.98 1 WDR4 100.00 1 WDR45 100.00 1 WDR45B 99.98 1 WDR5 99.97 1 WDR62 99.99 1 WDR73 100.00 1 WDR81 100.00 1 WIPI2 100.00 1 WNK3 99.72 1 WWOX 99.99 1 XPA 99.96 1 XRCC4 99.96 1 XYLT1 99.03 1 YAP1 99.96 1 YARS1 99.93 1 YIF1B 92.47 1 YIPF5 99.99 1 YWHAE 99.95 1 YWHAG 100.00 1 YY1 99.99 1 ZBTB11 99.96 1 ZBTB16 100.00 1 ZBTB18 99.87 1 ZBTB20 99.99 1 ZBTB24 99.96 1 ZBTB7A 100.00 1 ZC3H14 99.91 1 ZC4H2 99.76 1 ZDHHC16 100.00 1 ZDHHC9 99.67 1 ZEB2 99.90 1 ZFHX3 100.00 1 ZFHX4 99.96 1 ZFYVE26 99.96 1 ZIC1 100.00 1 ZIC2 100.00 1 ZMIZ1 100.00 1 ZMYM2 99.96 1 ZMYM3 99.97 1 ZMYND11 99.97 1 ZMYND8 99.94 1 ZNF142 99.99 1 ZNF148 99.90 1 ZNF292 99.97 1 ZNF335 100.00 1 ZNF407 99.97 1 ZNF41 99.53 1 ZNF462 99.98 1 ZNF526 100.00 1 ZNF699 99.93 1 ZNF711 99.60 1 ZNHIT3 82.47 1 ZSWIM6 97.69 1 -
Multiple osteochondromas (2 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments EXT1 100.00 1 EXT2 100.00 1 -
Myopathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 99.64 1 ACAD9 99.97 1 ACADM 99.64 1 ACADS 100.00 1 ACADVL 99.94 1 ACTA1 99.99 1 ACTN2 99.96 1 ADSS1 99.99 1 AGK 99.98 1 AGL 99.92 1 AGRN 99.83 1 ALDOA 100.00 1 ALG14 99.97 1 ALG2 99.95 1 ANO5 99.96 1 ANXA11 99.88 1 ASCC1 91.38 1 ATP1A2 99.96 1 ATP2A1 99.97 1 B3GALNT2 94.03 1 B4GAT1 99.95 1 BAG3 100.00 1 BIN1 100.00 1 BVES 99.97 1 CACNA1S 99.92 1 CAP2 99.97 1 CAPN3 99.98 1 CASQ1 99.91 1 CAV3 99.85 1 CAVIN1 99.99 1 CFL2 99.81 1 CHAT 99.77 1 CHD7 99.96 1 CHKB 99.89 1 CHRNA1 99.96 1 CHRNB1 99.99 1 CHRND 100.00 1 CHRNE 99.95 1 CHRNG 99.87 1 CLCN1 99.97 1 CNBP 99.97 1 COL12A1 99.95 1 COL13A1 99.56 1 COL25A1 99.96 1 COL6A1 100.00 1 COL6A2 99.96 1 COL6A3 99.99 1 COLQ 99.97 1 COX6A2 98.51 1 CPT2 99.99 1 CRPPA 99.59 1 CRYAB 99.98 1 DAG1 100.00 1 DCST2 99.92 1 DES 100.00 1 DGUOK 99.76 1 DMD 99.41 1 DMPK 99.98 1 DNAJB6 99.91 1 DNM2 99.96 1 DNMT3B 99.98 1 DOK7 99.73 1 DPAGT1 99.96 1 DPM2 100.00 1 DPM3 100.00 1 DYSF 99.99 1 EMD 97.92 1 ENO3 99.98 1 ETFA 99.84 1 ETFDH 99.76 1 FAM111B 99.99 1 FDX2 99.94 1 FHL1 99.92 1 FKRP 99.99 1 FKTN 99.91 1 FLAD1 100.00 1 FLNC 99.99 1 FXR1 99.81 1 GAA 99.99 1 GBE1 99.84 1 GFER 99.96 1 GFPT1 99.90 1 GGPS1 99.89 1 GMPPB 99.95 1 GNE 99.98 1 GYG1 99.97 1 GYS1 99.98 1 HACD1 99.78 1 HADH 99.97 1 HADHA 99.96 1 HADHB 99.97 1 HNRNPA1 100.00 1 HNRNPA2B1 99.95 1 HNRNPDL 99.92 1 INPP5K 99.99 1 ISCU 99.94 1 ITGA7 99.98 1 ITGA9 99.80 1 JAG2 98.50 1 KBTBD13 100.00 1 KCNJ2 100.00 1 KIF21A 99.80 1 KLHL40 100.00 1 KLHL41 99.96 1 KLHL9 100.00 1 KY 98.80 1 LAMA2 99.97 1 LAMB2 99.99 1 LAMP2 98.98 1 LARGE1 99.99 1 LDB3 98.02 1 LDHA 99.77 1 LIMS2 99.65 1 LMNA 99.98 1 LMOD3 99.96 1 LPIN1 99.97 1 LRP4 99.98 1 MAP3K20 99.92 1 MATR3 99.87 1 MB 99.99 1 MEGF10 99.90 1 MICU1 99.98 1 MLIP 99.94 1 MSTO1 98.87 1 MTM1 99.36 1 MUSK 99.97 1 MYBPC1 99.90 1 MYBPC3 99.98 1 MYH14 99.79 1 MYH2 99.97 1 MYH3 99.96 1 MYH7 100.00 1 MYL1 99.93 1 MYL2 99.98 1 MYMX 100.00 1 MYO18B 99.98 1 MYO9A 99.91 1 MYOD1 99.82 1 MYOT 99.98 1 MYPN 99.97 1 NEB 99.77 1 NPL 99.95 1 OPA1 99.87 1 ORAI1 97.73 1 PABPN1 99.67 1 PAX7 99.96 1 PFKM 99.82 1 PGAM2 100.00 1 PGK1 99.71 1 PGM1 99.89 1 PHKA1 99.57 1 PHKB 99.79 1 PHOX2A 96.75 1 PLEC 99.98 1 PNPLA2 99.99 1 PNPLA8 99.81 1 POGLUT1 99.91 1 POLG 99.98 1 POLG2 99.68 1 POMGNT1 99.98 1 POMGNT2 100.00 1 POMK 99.98 1 POMT1 99.91 1 POMT2 99.93 1 POPDC3 99.93 1 PREPL 99.96 1 PRKAG2 99.92 1 PYGM 99.98 1 PYROXD1 99.83 1 RAPSN 99.99 1 RBCK1 99.99 1 RXYLT1 99.53 1 RYR1 99.92 1 SCN4A 99.77 1 SELENON 95.81 1 SGCA 99.99 1 SGCB 99.62 1 SGCD 99.94 1 SGCG 99.87 1 SIL1 99.99 1 SLC18A3 100.00 1 SLC22A5 99.99 1 SLC25A20 99.90 1 SLC25A4 99.96 1 SLC5A7 99.97 1 SMCHD1 99.82 1 SMPX 99.37 1 SPEG 99.97 1 SQSTM1 100.00 1 STAC3 99.94 1 STIM1 99.97 1 SVIL 99.94 1 SYNE1 99.96 1 SYNE2 99.85 1 SYT2 99.89 1 TCAP 100.00 1 TIA1 99.56 1 TK2 99.99 1 TMEM126B 99.68 1 TMEM43 99.98 1 TNNC2 99.95 1 TNNI2 100.00 1 TNNT1 99.82 1 TNNT3 100.00 1 TNPO3 99.95 1 TNXB 99.95 1 TOP3A 99.95 1 TOR1AIP1 99.84 1 TPI1 99.95 1 TPM2 99.93 1 TPM3 99.95 1 TRAPPC11 99.59 1 TRDN 99.03 1 TRIM32 100.00 1 TRIP4 99.91 1 TRMT5 99.83 1 TTN 99.96 1 TUBB3 100.00 1 TWNK 100.00 1 UNC45B 99.93 1 VAMP1 99.70 1 VCP 99.92 1 VMA21 97.04 1 VWA1 91.35 1 -
Neuropathy (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 99.94 1 ABCA1 99.92 1 ABHD12 99.11 1 ADPRS 100.00 1 AGTPBP1 99.40 1 AIFM1 99.43 1 ARHGEF10 100.00 1 ARSA 100.00 1 ATL1 99.95 1 ATL3 99.86 1 ATM 99.83 1 ATP1A1 99.94 1 ATP7A 99.35 1 B4GALNT1 99.95 1 BAG3 100.00 1 BICD2 100.00 1 BSCL2 100.00 1 CADM3 99.94 1 CD59 99.97 1 CFAP276 99.73 1 CHCHD10 97.06 1 CLTCL1 99.98 1 CNTNAP1 99.80 1 COA7 100.00 1 COX20 99.40 1 COX6A1 99.99 1 CTDP1 98.02 1 CTNNB1 99.98 1 CYP27A1 99.96 1 DARS2 99.86 1 DCAF8 99.98 1 DCTN1 99.95 1 DGAT2 99.99 1 DGUOK 99.76 1 DHTKD1 99.88 1 DNAJB2 100.00 1 DNAJC3 99.58 1 DNM2 99.96 1 DNMT1 99.88 1 DRP2 99.45 1 DST 99.92 1 DYNC1H1 99.97 1 EGR2 100.00 1 ELP1 99.96 1 ETFDH 99.76 1 FBLN5 92.79 1 FBXO38 99.93 1 FGD4 99.89 1 FIG4 99.94 1 FLVCR1 99.93 1 FXN 97.92 1 GALC 99.88 1 GAN 99.84 1 GARS1 99.86 1 GBA2 99.97 1 GBE1 99.84 1 GBF1 99.95 1 GDAP1 99.93 1 GJB1 99.99 1 GJB3 100.00 1 GJC2 96.12 1 GLA 99.64 1 GNB4 99.95 1 GSN 97.83 1 HADHA 99.96 1 HADHB 99.97 1 HARS1 99.99 1 HINT1 99.96 1 HK1 96.86 1 HNRNPA1 100.00 1 HOXD10 100.00 1 HSPB1 99.83 1 HSPB3 100.00 1 HSPB8 99.90 1 IARS2 99.96 1 IFRD1 99.96 1 IGHMBP2 99.99 1 INF2 97.15 1 ITPR3 99.88 1 JAG1 99.92 1 KIF1A 99.96 1 KIF5A 99.93 1 LITAF 100.00 1 LMNA 99.98 1 LRSAM1 99.97 1 LYST 99.92 1 MCM3AP 99.96 1 MFN2 99.96 1 MMACHC 99.99 1 MME 97.69 1 MORC2 99.98 1 MPV17 100.00 1 MPZ 99.97 1 MTMR2 99.98 1 MTRFR 99.85 1 MYH14 99.79 1 NAGA 99.99 1 NAGLU 98.00 1 NARS1 99.74 1 NDRG1 100.00 1 NEFH 98.77 1 NEFL 99.99 1 NGF 99.99 1 NTRK1 99.67 1 PCYT2 97.60 1 PDK3 98.86 1 PEX7 99.87 1 PHYH 99.65 1 PIEZO2 99.88 1 PLD3 99.99 1 PLEKHG5 99.66 1 PLP1 99.93 1 PMM2 99.94 1 PMP2 99.95 1 PMP22 100.00 1 PNKP 100.00 1 PNPLA6 99.88 1 POLG 99.98 1 POLR3B 99.88 1 PPOX 99.94 1 PRDM12 99.60 1 PRKCG 99.90 1 PRNP 100.00 1 PRPS1 99.79 1 PRX 99.94 1 PTEN 99.15 1 PTPN11 99.91 1 PTRH2 99.97 1 RAB7A 99.94 1 REEP1 99.99 1 RETREG1 99.92 1 RFC1 99.44 1 SACS 99.98 1 SBF1 99.97 1 SBF2 99.92 1 SCARB2 99.94 1 SCN10A 99.97 1 SCN11A 99.77 1 SCN9A 99.96 1 SCO2 100.00 1 SCYL1 99.64 1 SEPTIN9 99.94 1 SETX 99.96 1 SH3TC2 99.98 1 SIGMAR1 99.99 1 SLC12A6 99.88 1 SLC25A19 99.99 1 SLC25A46 99.93 1 SLC52A2 100.00 1 SLC52A3 100.00 1 SLC5A7 99.97 1 SORD 92.86 1 SOX10 100.00 1 SPAST 99.83 1 SPG11 99.94 1 SPG7 99.99 1 SPTAN1 99.97 1 SPTBN4 99.19 1 SPTLC1 99.98 1 SPTLC2 99.94 1 SPTLC3 99.94 1 SURF1 97.64 1 SYT2 99.89 1 TBCE 99.69 1 TBCK 99.76 1 TECPR2 99.90 1 TFG 99.34 1 TRIM2 99.99 1 TRPV4 99.96 1 TTPA 99.97 1 TTR 100.00 1 TUBB3 100.00 1 TWNK 100.00 1 UCHL1 99.99 1 VAPB 99.94 1 VCP 99.92 1 VPS13A 99.60 1 VRK1 99.94 1 VWA1 91.35 1 WARS1 99.79 1 WNK1 99.94 1 XRCC1 99.94 1 YARS1 99.96 1 ZFHX2 99.98 1 ZFYVE26 99.96 1 -
Obesitas (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY3 99.96 1 BDNF 100.00 1 LEP 99.97 1 LEPR 96.36 1 MC3R 100.00 1 MC4R 99.98 1 NR0B2 99.99 1 NTRK2 99.99 1 PCSK1 99.99 1 POMC 100.00 1 SIM1 99.97 1 UCP3 99.98 1 -
Perrault syndrome (5 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments TWNK 100.00 0 CLPP 100.00 0 HARS2 100.00 0 HSD17B4 100.00 0 LARS2 100.00 0 -
Primary Electrical disorders/Brugada syndrome (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCB4 100.00 0 ABCC9 100.00 0 ACTN2 100.00 0 AKAP9 100.00 0 ANK2 100.00 0 CACNA1C 100.00 0 CACNA2D1 100.00 0 CACNB2 100.00 0 CALM1 100.00 0 CALM2 100.00 0 CALM3 100.00 0 CASQ2 100.00 0 CAV3 100.00 0 CTNNA3 100.00 0 DES 100.00 0 DPP6 100.00 0 DSC2 100.00 0 DSG2 100.00 0 DSP 100.00 0 GJA1 100.00 0 GJA5 100.00 0 GNB5 100.00 0 GPD1L 100.00 0 HCN4 100.00 0 JUP 100.00 0 KCNA5 100.00 0 KCND3 100.00 0 KCNE1 100.00 0 KCNE2 100.00 0 KCNE3 100.00 0 KCNE5 100.00 0 KCNH2 100.00 0 KCNJ2 100.00 0 KCNJ5 100.00 0 KCNJ8 100.00 0 KCNK17 100.00 0 KCNQ1 100.00 0 LMNA 100.00 0 NKX2-5 100.00 0 NOS1AP 100.00 0 NPPA 100.00 0 PKP2 100.00 0 PLN 100.00 0 PPA2 100.00 0 PRKAG2 100.00 0 RANGRF 100.00 0 RRAD 100.00 0 RYR2 100.00 0 SCN1B 100.00 0 SCN2B 100.00 0 SCN3B 100.00 0 SCN4B 100.00 0 SCN5A 100.00 0 SCN10A 100.00 0 SLMAP 100.00 0 SNTA1 100.00 0 TGFB3 100.00 0 TMEM43 100.00 0 TRDN 100.00 0 TRPM4 100.00 0 CDH2 100.00 0 CLCA2 100.00 0 FLNC 100.00 0 GNB2 100.00 0 MYL3 100.00 0 MYL4 100.00 0 RBM20 100.00 0 RNF207 100.00 0 SLC4A3 100.00 0 TANGO2 100.00 0 TECRL 100.00 0 TNNI3K 100.00 0 TTN 100.00 0 -
Rare epilepsy with developmental delay (gene panel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABAT 100.00 0 No comment ACTB 99.92 0 No comment ACTG1 100.00 0 No comment ACTL6B 99.16 0 No comment ACY1 99.96 0 No comment ADAR 99.99 0 No comment ADPRS 91.11 0 No comment ADSL 99.73 0 No comment AFG3L2 95.23 0 No comment ALDH7A1 99.83 0 No comment ALG11 100.00 0 No comment ALG13 95.29 0 No comment AMT 100.00 0 No comment ANKRD11 99.99 0 No comment AP3B2 97.74 0 No comment AP4S1 87.73 0 No comment ARFGEF2 99.81 0 No comment ARHGEF9 99.89 0 No comment ARID1B 87.88 0 No comment ARV1 89.03 0 No comment ARX 59.32 0 No comment ASXL3 99.74 0 No comment ATN1 99.12 0 No comment ATP1A2 99.88 0 No comment ATP1A3 99.81 0 No comment BRAT1 99.96 0 No comment BSCL2 100.00 0 No comment CACNA1A 92.18 0 No comment CACNA1B 93.35 0 No comment CACNA1E 99.99 0 No comment CACNA1G 99.63 0 No comment CACNA2D2 94.11 0 No comment CASK 99.78 0 No comment CDK13 88.47 0 No comment CDKL5 97.71 0 No comment CERS1 76.68 0 No comment CERT1 99.89 0 No comment CHD2 99.95 0 No comment CLCN4 99.94 0 No comment CLN3 99.98 0 No comment CLN5 97.84 0 No comment CLN6 91.00 0 No comment CLN8 100.00 0 No comment CLTC 100.00 0 No comment CNKSR2 99.28 0 No comment CNTNAP2 99.99 0 No comment COL18A1 96.27 0 No comment COL4A1 98.54 0 No comment CPLX1 99.70 0 No comment CPT2 97.07 0 No comment CSNK2B 100.00 0 No comment CSTB 92.54 0 No comment CTSD 97.90 0 No comment CUX2 98.72 0 No comment CYFIP2 99.99 0 No comment DCX 99.86 0 No comment DDX3X 99.66 0 No comment DENND5A 98.99 0 No comment DEPDC5 99.97 0 No comment DHDDS 99.77 0 No comment DMXL2 99.86 0 No comment DNM1 94.54 0 No comment DNM1L 99.97 0 No comment DOCK7 99.35 0 No comment DYRK1A 100.00 0 No comment EEF1A2 91.59 0 No comment EHMT1 98.44 0 No comment EPM2A 81.75 0 No comment FARS2 99.99 0 No comment FGF12 100.00 0 No comment FLNA 99.50 0 No comment FMN2 92.71 0 No comment FMR1 99.71 0 No comment FOLR1 100.00 0 No comment FOXG1 75.13 0 No comment FRRS1L 69.11 0 No comment FZR1 100.00 0 No comment GABBR2 95.14 0 No comment GABRA1 100.00 0 No comment GABRA2 100.00 0 No comment GABRB1 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 98.87 0 No comment GABRG2 92.15 0 No comment GAD1 100.00 0 No comment GAMT 95.00 0 No comment GBA1 100.00 0 No comment GLDC 96.06 0 No comment GNAO1 100.00 0 No comment GNB1 100.00 0 No comment GNB5 99.70 0 No comment GOSR2 99.87 0 No comment GPHN 100.00 0 No comment GRIA2 100.00 0 No comment GRIA3 97.93 0 No comment GRIK2 99.97 0 No comment GRIN1 99.74 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRIN2D 61.45 0 No comment HCN1 93.52 0 No comment HECW2 99.99 0 No comment HNRNPU 95.95 0 No comment HUWE1 99.62 0 No comment IER3IP1 99.80 0 No comment IFIH1 99.99 0 No comment IQSEC2 91.31 0 No comment IRF2BPL 91.18 0 No comment ITPA 100.00 0 No comment KANSL1 99.98 0 No comment KARS1 99.99 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNB1 99.01 0 No comment KCNC1 99.52 0 No comment KCNH1 99.96 0 No comment KCNJ10 100.00 0 No comment KCNK4 96.68 0 No comment KCNMA1 99.92 0 No comment KCNQ2 98.57 0 No comment KCNQ3 95.56 0 No comment KCNQ5 94.69 0 No comment KCNT1 97.66 0 No comment KCNT2 100.00 0 No comment KCTD7 97.74 0 No comment KDM5C 99.69 0 No comment KIF1A 99.96 0 No comment KIF2A 99.83 0 No comment KIF5C 99.91 0 No comment KMT2E 99.89 0 No comment MAP1B 99.93 0 No comment MBD5 100.00 0 No comment MECP2 91.83 0 No comment MED13L 99.94 0 No comment MEF2C 100.00 0 No comment MFSD8 100.00 0 No comment MOCS1 97.59 0 No comment MOCS2 100.00 0 No comment MTOR 99.89 0 No comment NARS2 99.98 0 No comment NBEA 98.89 0 No comment NEU1 100.00 0 No comment NEXMIF 99.96 0 No comment NF1 99.55 0 No comment NF2 99.93 0 No comment NHLRC1 99.28 0 No comment NIPA1 84.21 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRXN1 98.90 0 No comment NTRK2 100.00 0 No comment NUS1 98.46 0 No comment OTUD6B 99.73 0 No comment PACS2 96.45 0 No comment PAFAH1B1 100.00 0 No comment PARS2 100.00 0 No comment PCDH19 99.80 0 No comment PHACTR1 97.55 0 No comment PIGA 99.89 0 No comment PIGN 99.84 0 No comment PIGQ 100.00 0 No comment PIGS 100.00 0 No comment PIGT 100.00 0 No comment PLCB1 99.97 0 No comment PLPBP 99.57 0 No comment PNKP 99.98 0 No comment PNPO 99.98 0 No comment POLG 99.86 0 No comment PPP2R5D 99.94 0 No comment PPP3CA 99.93 0 No comment PPT1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRRT2 100.00 0 No comment PTEN 92.28 0 No comment PURA 85.06 0 No comment QARS1 100.00 0 No comment RELN 99.97 0 No comment RHOBTB2 99.98 0 No comment RNASEH2A 99.99 0 No comment RNASEH2B 93.70 0 No comment RNASEH2C 95.34 0 No comment ROGDI 94.47 0 No comment RORA 97.11 0 No comment RORB 100.00 0 No comment RTN4IP1 100.00 0 No comment SAMHD1 100.00 0 No comment SCARB2 100.00 0 No comment SCN1A 99.91 0 No comment SCN1B 95.75 0 No comment SCN2A 100.00 0 No comment SCN3A 100.00 0 No comment SCN8A 99.95 0 No comment SERPINI1 99.98 0 No comment SETD2 99.95 0 No comment SIK1 99.98 0 No comment SLC12A5 99.55 0 No comment SLC13A5 99.89 0 No comment SLC19A3 100.00 0 No comment SLC1A2 99.99 0 No comment SLC25A12 100.00 0 No comment SLC25A22 99.88 0 No comment SLC2A1 99.27 0 No comment SLC35A2 99.82 0 No comment SLC35A3 99.97 0 No comment SLC6A1 99.93 0 No comment SLC6A8 91.78 0 No comment SLC9A6 94.23 0 No comment SMARCA2 97.46 0 No comment SMC1A 99.50 0 No comment SNAP25 100.00 0 No comment AFG2A 100.00 0 No comment SPTAN1 99.98 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 93.40 0 No comment STAG1 99.98 0 No comment STX1B 99.89 0 No comment STXBP1 100.00 0 No comment SYN1 75.34 0 No comment SYNGAP1 98.18 0 No comment SYNJ1 99.27 0 No comment SZT2 99.94 0 No comment TANC2 100.00 0 No comment TBC1D24 99.73 0 No comment TBCD 96.99 0 No comment TCF4 99.90 0 No comment TK2 85.99 0 No comment ACD 99.86 0 No comment TRAK1 99.99 0 No comment TRAPPC6B 100.00 0 No comment TREX1 100.00 0 No comment TRIT1 99.98 0 No comment TSC1 99.97 0 No comment TSC2 99.99 0 No comment TUBA1A 100.00 0 No comment TUBB2B 100.00 0 No comment UBA5 99.97 0 No comment UBE3A 99.97 0 No comment UFC1 99.91 0 No comment UGDH 99.96 0 No comment VARS1 100.00 0 No comment VARS2 100.00 0 No comment WDR26 99.78 0 No comment WDR45 99.67 0 No comment WWOX 100.00 0 No comment YWHAG 100.00 0 No comment ZBTB18 99.11 0 No comment ZEB2 99.91 0 No comment ZNHIT3 74.73 0 No comment -
Skeletal dysplasia (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALPL 100.00 1 ALX3 100.00 1 ARID1A 99.99 1 B3GALT6 92.42 1 CDC73 99.98 1 COL11A1 99.99 1 COL9A2 100.00 1 CTSK 100.00 1 DDR2 100.00 1 DHCR24 100.00 1 DVL1 100.00 1 FAM20B 100.00 1 FUCA1 100.00 1 GNAI3 99.99 1 GNPAT 99.96 1 GORAB 99.99 1 HHAT 100.00 1 HS2ST1 99.93 1 HSPG2 99.99 1 IARS2 100.00 1 LBR 99.99 1 LMNA 100.00 1 NLRP3 100.00 1 NMNAT1 95.03 1 NOTCH2 100.00 1 NRAS 99.97 1 ORC1 100.00 1 P3H1 100.00 1 PHGDH 100.00 1 PIGV 100.00 1 PLOD1 100.00 1 POLR3GL 100.00 1 PRKACB 100.00 1 PRRX1 100.00 1 RBM8A 100.00 1 SDCCAG8 99.99 1 SF3B4 100.00 1 SKI 100.00 1 SLC25A24 99.30 1 SLC35D1 99.68 1 TBCE 100.00 1 TBX15 100.00 1 TGFB2 100.00 1 TMCO1 99.91 1 TMEM53 100.00 1 ZMPSTE24 99.99 1 CHST3 100.00 1 DNA2 99.99 1 FBXW4 98.98 1 FGFR2 100.00 1 KAT6B 100.00 1 KIF5B 99.93 1 PAPSS2 99.93 1 POLR3A 100.00 1 SLC29A3 100.00 1 SMC3 99.98 1 TCTN3 100.00 1 ALG9 94.06 1 ALX4 100.00 1 ANO5 100.00 1 ARCN1 100.00 1 B3GAT3 94.88 1 BANF1 100.00 1 BBS1 100.00 1 C2CD3 99.99 1 CDKN1C 100.00 1 CREB3L1 100.00 1 CYP2R1 98.84 1 DPAGT1 100.00 1 DYNC2H1 99.84 1 EED 100.00 1 EXT2 100.00 1 FAM111A 100.00 1 FAR1 99.98 1 FERMT3 100.00 1 HRAS 100.00 1 IFITM5 100.00 1 INPPL1 99.93 1 LRP4 100.00 1 LRP5 100.00 1 LTBP3 100.00 1 MMP13 99.99 1 NADSYN1 100.00 1 PIK3C2A 99.99 1 PLCB3 100.00 1 RASGRP2 100.00 1 SERPINH1 100.00 1 SLC39A13 100.00 1 TCIRG1 100.00 1 TMEM138 100.00 1 TMEM216 100.00 1 ABCC9 99.99 1 ALX1 100.00 1 ATP6V0A2 100.00 1 BBS10 100.00 1 CEP290 99.84 1 CHST11 100.00 1 COL2A1 100.00 1 CYP27B1 100.00 1 FGF23 100.00 1 GDF3 100.00 1 GNPTAB 100.00 1 GNS 100.00 1 IFT81 94.63 1 LEMD3 100.00 1 MAPKAPK5 100.00 1 MGP 100.00 1 PDE3A 100.00 1 PEX5 100.00 1 POLE 100.00 1 POLR3B 99.98 1 PTHLH 100.00 1 PTPN11 99.98 1 RFLNA 99.50 1 SP7 100.00 1 TBX3 100.00 1 TBX5 100.00 1 TCTN1 94.52 1 TCTN2 99.95 1 TRPV4 100.00 1 VDR 99.44 1 VPS33A 95.74 1 WNT1 100.00 1 WNT10B 100.00 1 FGF9 99.98 1 GPC6 100.00 1 KL 98.69 1 POLR1D 99.94 1 TGDS 99.99 1 TNFSF11 100.00 1 AKT1 100.00 1 GNPNAT1 99.99 1 GSC 100.00 1 IFT43 100.00 1 KIAA0586 95.70 1 LTBP2 100.00 1 MMP14 100.00 1 SEC23A 99.98 1 SIX1 100.00 1 SMOC1 100.00 1 SRP54 99.97 1 TGFB3 100.00 1 LYSET 100.00 1 TRIP11 99.98 1 TTC8 99.96 1 ACAN 98.67 1 ADAMTS17 98.97 1 BBS4 100.00 1 CEP152 99.99 1 CHST14 99.49 1 CHSY1 99.98 1 DLL4 100.00 1 EFL1 100.00 1 FBN1 100.00 1 FMN1 100.00 1 GREM1 100.00 1 IDH2 99.93 1 KIF7 99.98 1 LRRK1 100.00 1 MAP2K1 100.00 1 MESD 100.00 1 MESP2 100.00 1 PPIB 100.00 1 SMAD3 100.00 1 SMAD6 100.00 1 TCF12 100.00 1 ANKRD11 100.00 1 BBS2 100.00 1 CBFB 100.00 1 CDH3 100.00 1 CDK10 100.00 1 CDT1 99.07 1 CLCN7 99.78 1 COG4 100.00 1 CREBBP 100.00 1 DHODH 100.00 1 GALNS 100.00 1 GINS2 100.00 1 GNPTG 99.45 1 IFT140 100.00 1 KIF22 100.00 1 MBTPS1 100.00 1 MMP2 100.00 1 ORC6 99.99 1 PAM16 100.00 1 PRMT7 99.99 1 RPGRIP1L 98.82 1 RPL13 100.00 1 RSPRY1 100.00 1 SALL1 100.00 1 TBC1D24 100.00 1 TBX6 100.00 1 TMEM231 100.00 1 TRAF7 100.00 1 VAC14 100.00 1 XYLT1 98.81 1 ACTG1 100.00 1 BHLHA9 99.55 1 CANT1 99.97 1 CDC6 100.00 1 COG1 100.00 1 COL1A1 100.00 1 DLX3 100.00 1 EFTUD2 100.00 1 EIF4A3 99.99 1 FKBP10 100.00 1 FZD2 100.00 1 HES7 100.00 1 KCNJ2 100.00 1 KIAA0753 100.00 1 MEOX1 100.00 1 MKS1 100.00 1 MYH3 100.00 1 NAGLU 99.96 1 NF1 99.98 1 NOG 100.00 1 NXN 100.00 1 P4HB 100.00 1 PLEKHM1 100.00 1 PRKAR1A 100.00 1 PYCR1 100.00 1 SERPINF1 100.00 1 SGSH 100.00 1 SMARCE1 99.97 1 SOST 100.00 1 SOX9 100.00 1 SUZ12 99.97 1 TBX4 99.45 1 WNT3 100.00 1 XYLT2 100.00 1 DYM 99.99 1 LPIN2 99.99 1 RBBP8 99.96 1 SMAD2 100.00 1 SMAD4 100.00 1 SMCHD1 99.97 1 TNFRSF11A 97.91 1 ACP5 100.00 1 ADAMTS10 100.00 1 AKT2 100.00 1 APC2 99.99 1 B9D2 100.00 1 CCDC8 100.00 1 COMP 100.00 1 DLL3 99.85 1 DOCK6 100.00 1 EPS15L1 100.00 1 ERF 100.00 1 FUZ 100.00 1 GPX4 96.50 1 LONP1 100.00 1 MAN2B1 100.00 1 MEGF8 99.96 1 NFIX 99.97 1 PRKACA 100.00 1 SMARCA4 100.00 1 TGFB1 100.00 1 TYROBP 100.00 1 UBA2 99.97 1 ACVR1 100.00 1 AFF3 100.00 1 AGPS 99.76 1 ANAPC1 99.82 1 ARHGAP25 100.00 1 BBS5 99.97 1 CKAP2L 100.00 1 COLEC11 100.00 1 CRIPT 100.00 1 CYP26B1 100.00 1 DNMT3A 100.00 1 DYNC2LI1 100.00 1 EIF2AK3 99.96 1 EN1 100.00 1 EXOC6B 99.77 1 FN1 100.00 1 FOSL2 100.00 1 GALNT3 99.99 1 GLI2 100.00 1 HAAO 100.00 1 HDAC4 100.00 1 HOXD13 100.00 1 IDH1 100.00 1 IFIH1 99.99 1 IFT172 100.00 1 IHH 100.00 1 IL1RN 100.00 1 KYNU 99.99 1 LTBP1 100.00 1 MAP3K20 100.00 1 MATN3 99.95 1 MTX2 99.95 1 MYCN 99.97 1 NBAS 100.00 1 NPPC 100.00 1 OBSL1 99.99 1 ORC4 100.00 1 PAX3 100.00 1 PKDCC 99.76 1 POLR1A 100.00 1 POLR1B 100.00 1 SIX2 100.00 1 SMARCAL1 100.00 1 TMEM237 99.98 1 TRAF3IP1 100.00 1 TTC21B 99.97 1 WDPCP 91.91 1 WDR35 99.99 1 WNT6 100.00 1 ASXL1 100.00 1 BMP2 99.98 1 COL9A3 100.00 1 CTSA 100.00 1 DDRGK1 100.00 1 DPM1 97.07 1 ELMO2 100.00 1 GDF5 100.00 1 GNAS 100.00 1 GZF1 100.00 1 IFT52 100.00 1 LAMA5 99.87 1 MAFB 100.00 1 MKKS 99.98 1 MMP9 100.00 1 PLCB4 100.00 1 SALL4 100.00 1 SNRPB 100.00 1 CFAP410 100.00 1 DONSON 99.81 1 PCNT 100.00 1 ALG12 100.00 1 CCDC134 100.00 1 CDC45 100.00 1 EP300 100.00 1 FBLN1 99.89 1 MCM5 100.00 1 MYO18B 100.00 1 PISD 100.00 1 SMARCB1 100.00 1 SPECC1L 100.00 1 ALG3 100.00 1 ARHGAP31 100.00 1 ARL6 100.00 1 ATR 99.98 1 CASR 100.00 1 COPB2 100.00 1 CRTAP 99.90 1 DVL3 100.00 1 DYNLT2B 100.00 1 EOGT 99.99 1 FLNB 100.00 1 GLB1 100.00 1 HYAL1 100.00 1 IFT122 100.00 1 IFT80 99.94 1 LMOD3 100.00 1 MASP1 100.00 1 MECOM 100.00 1 NEPRO 99.99 1 PCYT1A 100.00 1 PIK3CA 99.97 1 PLOD2 99.95 1 POC1A 100.00 1 PTH1R 100.00 1 SETD2 99.99 1 SLCO2A1 100.00 1 SUMF1 100.00 1 TGFBR2 100.00 1 THPO 100.00 1 TOP2B 99.85 1 TP63 99.99 1 TRAIP 100.00 1 WNT5A 100.00 1 WNT7A 100.00 1 ZIC1 100.00 1 AGA 100.00 1 ANTXR2 100.00 1 BBS12 100.00 1 BBS7 99.97 1 BMPR1B 100.00 1 CC2D2A 98.21 1 CENPE 99.92 1 DMP1 100.00 1 DSPP 100.00 1 EDNRA 100.00 1 EVC 96.08 1 EVC2 100.00 1 FGFR3 100.00 1 HPGD 99.99 1 IDUA 99.84 1 INTU 100.00 1 MAB21L2 100.00 1 MANBA 99.99 1 NEK1 99.99 1 NKX3-2 100.00 1 PRKG2 99.98 1 RAB33B 100.00 1 RBPJ 100.00 1 SEC24D 100.00 1 SGMS2 100.00 1 SH3BP2 98.03 1 SLC10A7 100.00 1 TAPT1 98.76 1 TMEM165 99.97 1 UFSP2 99.99 1 WDR19 99.94 1 ANKH 100.00 1 ARSB 99.92 1 ARSK 99.98 1 B4GALT7 99.95 1 BNIP1 100.00 1 CEP120 99.96 1 CPLANE1 99.97 1 CSF1R 100.00 1 DNAJC21 100.00 1 FBN2 99.99 1 FGF10 100.00 1 HSPA9 100.00 1 IL6ST 99.99 1 KIAA0825 99.99 1 LIFR 99.94 1 MSX2 100.00 1 NIPBL 99.91 1 NPR3 100.00 1 NSD1 100.00 1 PDE4D 99.99 1 PDGFRB 100.00 1 PITX1 100.00 1 SH3PXD2B 100.00 1 SLC26A2 100.00 1 SPARC 100.00 1 SQSTM1 100.00 1 TCOF1 100.00 1 XRCC4 100.00 1 ZSWIM6 97.48 1 ARID1B 99.51 1 CCN6 100.00 1 CILK1 99.92 1 COL10A1 100.00 1 COL11A2 100.00 1 COL9A1 99.99 1 CUL7 100.00 1 DSE 99.66 1 EDN1 100.00 1 ENPP1 99.27 1 FIG4 100.00 1 FOXC1 99.89 1 GCM2 100.00 1 GJA1 100.00 1 GMNN 99.99 1 ID4 97.95 1 MAP3K7 100.00 1 MCM3 100.00 1 NEU1 100.00 1 OSTM1 99.96 1 PEX7 100.00 1 PGM3 100.00 1 POLR1C 97.57 1 RAB23 100.00 1 RIPPLY2 99.85 1 RUNX2 100.00 1 SCUBE3 100.00 1 SLC17A5 99.99 1 SLC35B2 100.00 1 TAB2 100.00 1 TENT5A 100.00 1 TFAP2B 100.00 1 TREM2 100.00 1 ACTB 100.00 1 BBS9 99.96 1 BMPER 100.00 1 COL1A2 100.00 1 CYP3A4 99.94 1 DLX5 100.00 1 DLX6 100.00 1 DYNC2I1 96.68 1 EZH2 99.98 1 FAM20C 99.99 1 FKBP14 99.95 1 GLI3 100.00 1 GUSB 100.00 1 HOXA11 100.00 1 HOXA13 96.84 1 KDELR2 100.00 1 LFNG 94.20 1 LMBR1 99.96 1 MCM7 100.00 1 MET 100.00 1 MNX1 87.84 1 POR 100.00 1 RINT1 99.95 1 SBDS 100.00 1 SFRP4 100.00 1 SHH 100.00 1 SLC4A2 100.00 1 SMO 99.99 1 SNX10 99.97 1 TBXAS1 99.99 1 TRPV6 99.41 1 TWIST1 100.00 1 ASAH1 99.99 1 BMP1 100.00 1 BPNT2 100.00 1 CA2 100.00 1 COLEC10 100.00 1 CSGALNACT1 100.00 1 CSPP1 99.99 1 ESCO2 99.74 1 EXT1 100.00 1 EXTL3 100.00 1 FGFR1 100.00 1 GDF6 99.99 1 HGSNAT 96.79 1 NSMCE2 100.00 1 POP1 100.00 1 PTDSS1 100.00 1 RAD21 100.00 1 RECQL4 99.80 1 RSPO2 100.00 1 SLCO5A1 100.00 1 SULF1 100.00 1 TMEM67 99.30 1 TNFRSF11B 100.00 1 TONSL 100.00 1 TRPS1 100.00 1 ABL1 100.00 1 ADAMTSL2 100.00 1 COL27A1 100.00 1 RIGI 99.97 1 DYNC2I2 100.00 1 HNRNPK 100.00 1 IL11RA 100.00 1 LMX1B 100.00 1 MTAP 100.00 1 NANS 100.00 1 NOTCH1 100.00 1 NPR2 100.00 1 ROR2 99.98 1 SLC34A3 100.00 1 TGFBR1 100.00 1 TMEM38B 100.00 1 TRIM32 100.00 1 VCP 100.00 1 ZNF462 100.00 1 AIFM1 100.00 1 AMER1 100.00 1 ARSL 100.00 1 ATP7A 100.00 1 BGN 100.00 1 CCNQ 99.81 1 CLCN5 100.00 1 EBP 100.00 1 EFNB1 100.00 1 FANCB 100.00 1 FGD1 100.00 1 FGF16 100.00 1 FLNA 100.00 1 GPC3 100.00 1 GPC4 100.00 1 HDAC8 100.00 1 IDS 100.00 1 IKBKG 100.00 1 MBTPS2 100.00 1 MID1 100.00 1 NSDHL 100.00 1 OFD1 100.00 1 PHEX 99.99 1 PLS3 100.00 1 PORCN 100.00 1 SHOX 94.83 1 SMC1A 100.00 1 SMS 100.00 1 TRAPPC2 100.00 1 ZIC3 100.00 1 -
Spinocerebellar ataxia (type 8, 10, 12, 17) (4 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATXN8 0.00 0 ATXN10 0.00 0 PPP2R2B 0.00 0 TBP 0.00 0 -
Spinocerebellar ataxia (types 1, 2, 3, 6, 7) (5 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ATXN1 0.00 0 36-44 of CAT trinucleotide repeats ATXN2 0.00 0 Alleles with 33 or more CAG repeats ATXN3 0.00 0 CAG repeat expansion mutation greater than 56. CACNA1A 0.00 0 expanded CAG(n) repeat in exon 47 of the CACNA1A gene. Normal alleles contain 4 to 18 repeats, whereas pathogenic alleles contain 19 to 33 repeats. ATXN7 0.00 0 On mutated alleles, CAG repeat size was highly variable, ranging from 38 to 130 repeats, whereas on normal alleles it ranged from 7 to 17 repeats -
Stickler syndrome (4 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments COL11A1 100.00 0 COL2A1 100.00 0 COL9A1 100.00 0 COL9A2 100.00 0 -
Treacher Collins (3 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments POLR1C 100.00 0 POLR1D 100.00 0 TCOF1 100.00 0 -
Usher syndrome (10 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments CDH23 100.00 0 CLRN1 100.00 0 WHRN 100.00 0 ADGRV1 100.00 0 MYO7A 100.00 0 PCDH15 100.00 0 PDZD7 100.00 0 USH1C 100.00 0 USH1G 100.00 0 USH2A 100.00 0 -
Waardenburg syndrome (6 genes) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments EDN3 100.00 0 EDNRB 100.00 0 PAX3 100.00 0 SNAI2 100.00 0 SOX10 100.00 0 MITF 100.00 0