- Diseases
- Infantile spasms syndrome
Infantile spasms syndrome
Name: |
Infantile spasms syndrome
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Description: |
A rare epilepsy syndrome characterized by onset of epileptic spasms in infants between 2 and 12 months of age, and rarely up to 24 months. Infants may have no antecedent history, or a history reflecting the underlying cause. The classical triad of epileptic spasms, hypsarrhythmia and developmental stagnation or regression is historically referred to as West syndrome.
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ORPHAcode: |
3451
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Synonyms: |
West syndrome
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XREF(s): | |
Analyte(s): | |
Created: |
13 May 2019 - 01:02
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Changed: |
22 Jun 2023 - 16:14
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Congenital disorders of glycosylation (100 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALDOB 84.08 0 NM_000035.4 ALG1 98.93 0 NM_019109.5 ALG10 99.70 0 NM_032834.4 ALG11 99.76 0 NM_001004127.3 ALG12 99.83 0 NM_024105.4 ALG13 99.93 0 NM_001099922.3 ALG14 99.94 0 NM_144988.4 ALG2 99.94 0 NM_033087.4 ALG3 99.94 0 NM_005787.6 ALG5 99.94 0 NM_013338.5 ALG6 99.94 0 NM_013339.4 ALG8 99.94 0 NM_024079.5 ALG9 99.95 0 NM_024740.2 ATP6AP1 99.95 0 NM_001183.6 ATP6AP2 99.95 0 NM_005765.3 ATP6V0A2 99.95 0 NM_012463.4 ATP6V1A 99.95 0 NM_001690.4 ATP6V1E1 99.96 0 NM_001696.4 B4GALT1 99.96 0 NM_001497.4 CAD 99.96 0 NM_004341.5 CAMLG 99.97 0 NM_001745.4 CCDC115 99.97 0 NM_032357.4 COG1 99.97 0 NM_018714.3 COG2 99.97 0 NM_007357.3 COG3 99.97 0 NM_031431.4 COG4 99.97 0 NM_015386.3 COG5 99.97 0 NM_006348.5 COG6 99.97 0 NM_020751.3 COG7 99.97 0 NM_153603.4 COG8 99.98 0 NM_032382.5 DAD1 99.98 0 NM_001344.4 DDOST 99.98 0 NM_005216.5 DHDDS 99.98 0 NM_024887.4 DHRSX 99.98 0 NM_145177.3 DOLK 99.98 0 NM_014908.4 DOLPP1 99.98 0 NM_020438.5 DPAGT1 99.98 0 NM_001382.4 DPM1 99.98 0 NM_003859.3 DPM2 99.98 0 NM_003863.4 DPM3 99.98 0 NM_153741.2 EDEM3 99.98 0 NM_025191.4 FCSK 99.99 0 NM_145059.3 FUT1 99.99 0 NM_000148.4 FUT8 99.99 0 NM_178155.3 G6PC3 99.99 0 NM_138387.4 GALE 99.99 0 NM_000403.4 GALK1 99.99 0 NM_000154.2 GALM 99.99 0 NM_138801.3 GALT 99.99 0 NM_000155.4 GANAB 99.99 0 NM_198335.4 GET3 99.99 0 NM_004317.4 GET4 99.99 0 NM_015949.3 GFPT1 99.99 0 NM_001244710.2 GFUS 99.99 0 NM_003313.4 GMPPA 99.99 0 NM_205847.3 GMPPB 99.99 0 NM_013334.4 GNE 99.99 0 NM_001128227.3 GNPNAT1 99.99 0 NM_198066.4 MAGT1 99.99 0 NM_032121.5 MAN1B1 99.99 0 NM_016219.5 MAN2B2 99.99 0 NM_015274.3 MGAT2 99.99 0 NM_002408.4 MOGS 99.99 0 NM_006302.3 MPDU1 100.00 0 NM_004870.4 MPI 100.00 0 NM_002435.3 NANS 100.00 0 NM_018946.4 NPL 100.00 0 NM_030769.3 NUS1 100.00 0 NM_138459.5 OST4 100.00 0 NM_001134693.2 OSTC 100.00 0 NM_001267818.2 PGM1 100.00 0 NM_002633.3 PGM3 100.00 0 NM_001199917.2 PMM2 100.00 0 NM_000303.3 PRKCSH 100.00 0 NM_002743.3 RFT1 100.00 0 NM_052859.4 RPN1 100.00 0 NM_002950.4 RPN2 100.00 0 NM_002951.5 SEC23B 100.00 0 NM_006363.6 SLC10A7 100.00 0 NM_001300842.3 SLC35A1 100.00 0 NM_006416.5 SLC35A2 100.00 0 NM_001042498.3 SLC35A3 100.00 0 NM_012243.3 SLC35C1 100.00 0 NM_018389.5 SLC35D1 100.00 0 NM_015139.3 SLC37A4 100.00 0 NM_001164277.2 SLC39A8 100.00 0 NM_022154.5 SLC9A7 100.00 0 NM_032591.3 SRD5A3 100.00 0 NM_024592.5 SSR3 100.00 0 NM_007107.5 SSR4 100.00 0 NM_001204526.1 STT3A 100.00 0 NM_001278503.2 STT3B 100.00 0 NM_178862.3 STX5 100.00 0 NM_003164.5 TMEM165 100.00 0 NM_018475.5 TMEM199 100.00 0 NM_152464.3 TRAPPC9 100.00 0 NM_031466.8 TUSC3 100.00 0 NM_006765.4 UGDH 100.00 0 NM_003359.4 UGP2 100.00 0 NM_006759.4 VMA21 100.00 0 NM_001017980.4 -
Dystonia (86 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ARX 93.36 0 NM_139058.3 CACNA1B 98.50 0 NM_000718.4 KMT2B 98.89 0 NM_014727.3 ADCY5 99.21 0 NM_183357.3 TBCD 99.45 0 NM_005993.5 SMPD1 99.65 0 NM_000543.5 FA2H 99.79 0 NM_024306.5 SUCLG1 99.81 0 NM_003849.4 PRKRA 99.85 0 NM_003690.5 ATN1 99.86 0 NM_001007026.2 AOPEP 99.89 0 NM_001193329.3 TH 99.91 0 NM_199292.3 VAC14 99.91 0 NM_018052.5 TAF1 99.92 0 NM_004606.5 CIZ1 99.92 0 NM_012127.3 NKX2-1 99.92 0 NM_001079668.3 PANK2 99.95 0 NM_153638.4 TOR1A 99.95 0 NM_000113.3 ATM 99.95 0 NM_000051.4 VPS16 99.96 0 NM_022575.4 GCDH 99.96 0 NM_000159.4 MECR 99.97 0 NM_016011.5 NPC1 99.97 0 NM_000271.5 KCNMA1 99.97 0 NM_002247.4 SCN8A 99.97 0 NM_014191.4 PLA2G6 99.97 0 NM_003560.4 ANO3 99.98 0 NM_031418.4 HPRT1 99.98 0 NM_000194.3 RELN 99.98 0 NM_005045.4 SPR 99.98 0 NM_003124.5 GM2A 99.98 0 NM_000405.5 ACTB 99.98 0 NM_001101.5 SLC20A2 99.98 0 NM_006749.5 CP 99.98 0 NM_000096.4 EIF2AK2 99.98 0 NM_001135651.3 GLB1 99.98 0 NM_000404.4 WDR45 99.99 0 NM_007075.4 VPS13A 99.99 0 NM_033305.3 PNKD 99.99 0 NM_015488.5 CLN3 99.99 0 NM_001042432.2 SLC2A1 99.99 0 NM_006516.4 CACNA1A 99.99 0 NM_001127221.2 FTL 99.99 0 NM_000146.4 HPCA 99.99 0 NM_002143.3 SLC18A2 99.99 0 NM_003054.6 PRRT2 99.99 0 NM_145239.3 DCAF17 99.99 0 NM_025000.4 MMUT 99.99 0 NM_000255.4 GNB1 99.99 0 NM_002074.5 COL6A3 99.99 0 NM_004369.4 PTS 99.99 0 NM_000317.3 NR4A2 99.99 0 NM_006186.4 HEXB 99.99 0 NM_000521.4 SLC6A3 99.99 0 NM_001044.5 SLC30A10 99.99 0 NM_018713.3 GNAL 99.99 0 NM_001142339.3 GCH1 100.00 0 NM_000161.3 BCAP31 100.00 0 NM_001139441.1 SLC6A19 100.00 0 NM_001003841.3 VPS41 100.00 0 NM_014396.4 COQ8A 100.00 0 NM_020247.5 KCTD17 100.00 0 NM_001282684.2 ATP1A3 100.00 0 NM_152296.5 RHOBTB2 100.00 0 NM_001160036.2 GNAO1 100.00 0 NM_020988.3 ATP7B 100.00 0 NM_000053.4 SLC39A14 100.00 0 NM_015359.6 PPP2R5D 100.00 0 NM_006245.4 ARSA 100.00 0 NM_000487.6 AUH 100.00 0 NM_001698.3 C19ORF12 100.00 0 NM_001031726.4 COASY 100.00 0 NM_025233.7 CYP27A1 100.00 0 NM_000784.4 DDC 100.00 0 NM_000790.4 DRD2 100.00 0 NM_000795.4 HEXA 100.00 0 NM_000520.6 KCNA1 100.00 0 NM_000217.3 MR1 100.00 0 NM_001194999.2 NPC2 100.00 0 NM_006432.5 SERAC1 100.00 0 NM_032861.4 SGCE 100.00 0 NM_003919.3 SLC19A3 100.00 0 NM_025243.4 THAP1 100.00 0 NM_018105.3 TIMM8A 100.00 0 NM_004085.4 TUBB4A 100.00 0 NM_006087.4 WARS2 100.00 0 NM_015836.4 -
Early-onset severe obesity (44 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY3 100.00 0 only for coding exons and intronic borders +/-14pb ALMS1 100.00 0 only for coding exons and intronic borders +/-14pb BBS1 100.00 0 only for coding exons and intronic borders +/-14pb BBS2 100.00 0 only for coding exons and intronic borders +/-14pb ARL6 100.00 0 only for coding exons and intronic borders +/-14pb BBS4 100.00 0 only for coding exons and intronic borders +/-14pb BBS5 100.00 0 only for coding exons and intronic borders +/-14pb MKKS 100.00 0 only for coding exons and intronic borders +/-14pb BBS7 100.00 0 only for coding exons and intronic borders +/-14pb TTC8 100.00 0 only for coding exons and intronic borders +/-14pb BBS9 99.99 0 only for coding exons and intronic borders +/-14pb BBS10 100.00 0 only for coding exons and intronic borders +/-14pb TRIM32 100.00 0 only for coding exons and intronic borders +/-14pb BBS12 100.00 0 only for coding exons and intronic borders +/-14pb MKS1 100.00 0 only for coding exons and intronic borders +/-14pb CEP290 99.99 0 only for coding exons and intronic borders +/-14pb WDPCP 100.00 0 only for coding exons and intronic borders +/-14pb SDCCAG8 100.00 0 only for coding exons and intronic borders +/-14pb LZTFL1 100.00 0 only for coding exons and intronic borders +/-14pb BBIP1 100.00 0 only for coding exons and intronic borders +/-14pb IFT27 100.00 0 only for coding exons and intronic borders +/-14pb BDNF 100.00 0 only for coding exons and intronic borders +/-14pb CREBBP 99.99 0 only for coding exons and intronic borders +/-14pb EP300 99.99 0 only for coding exons and intronic borders +/-14pb GNAS 99.34 0 only for coding exons and intronic borders +/-14pb INPP5E 97.02 0 only for coding exons and intronic borders +/-14pb LEP 100.00 1 only for coding exons and intronic borders +/-14pb LEPR 99.99 1 only for coding exons and intronic borders +/-14pb MAGEL2 99.54 0 only for coding exons and intronic borders +/-14pb MC3R 100.00 1 only for coding exons and intronic borders +/-14pb MC4R 100.00 1 only for coding exons and intronic borders +/-14pb MYT1L 100.00 0 only for coding exons and intronic borders +/-14pb NTRK2 100.00 0 only for coding exons and intronic borders +/-14pb PCSK1 99.99 0 only for coding exons and intronic borders +/-14pb PHF6 99.98 0 only for coding exons and intronic borders +/-14pb POMC 99.97 1 only for coding exons and intronic borders +/-14pb RAB23 100.00 0 only for coding exons and intronic borders +/-14pb SETD2 100.00 0 only for coding exons and intronic borders +/-14pb SH2B1 100.00 1 only for coding exons and intronic borders +/-14pb SIM1 100.00 1 only for coding exons and intronic borders +/-14pb TBX3 98.58 0 only for coding exons and intronic borders +/-14pb TUB 100.00 0 only for coding exons and intronic borders +/-14pb DYRK1B 99.94 0 only for coding exons and intronic borders +/-14pb MRAP2 100.00 0 only for coding exons and intronic borders +/-14pb -
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