Cerebral palsy (genepanel) - UZA
Full name: |
Cerebral palsy (genepanel) - UZA
|
Version number: |
WESCPv4
|
Laboratory: | |
Created: |
04 Jul 2019 - 13:23
|
Changed: |
20 Mar 2024 - 07:45
|
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 | |
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 | |
HYCC1 | 99.98 | 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 |