Belgian Genetic Tests database- 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 (79 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ALDOB 95.00 0 NM_000035.3/ interpretable range CS1>95% ALG1 95.00 0 NM_019109.4/ interpretable range CS1>95% ALG10 95.00 0 NM_032834.3/ interpretable range CS1>95% ALG11 95.00 0 NM_001004127.2/ interpretable range CS1>95% ALG12 95.00 0 NM_024105.3/ interpretable range CS1>95% ALG13 95.00 0 NM_001099922.2/ interpretable range CS1>95% ALG14 95.00 0 NM_144988.3/ interpretable range CS1>95% ALG2 95.00 0 NM_033087.3/ interpretable range CS1>95% ALG3 95.00 0 NM_005787.5/ interpretable range CS1>95% ALG5 95.00 0 NM_013338.4/ interpretable range CS1>95% ALG6 95.00 0 NM_013339.3/ interpretable range CS1>95% ALG8 95.00 0 NM_024079.4/ interpretable range CS1>95% ALG9 95.00 0 NM_024740.2/ interpretable range CS1>95% ATP6V0A2 95.00 0 NM_012463.3/ interpretable range CS1>95% ATP9B 95.00 0 NM_198531.4/ interpretable range CS1>95% B3GLCT 95.00 0 NM_194318.3/ interpretable range CS1>95% B4GALT1 95.00 0 NM_001497.3/ interpretable range CS1>95% COG1 95.00 0 NM_018714.2/ interpretable range CS1>95% COG2 95.00 0 NM_007357.2/ interpretable range CS1>95% COG3 95.00 0 NM_031431.3/ interpretable range CS1>95% COG4 95.00 0 NM_015386.2/ interpretable range CS1>95% COG5 95.00 0 NM_006348.3/ interpretable range CS1>95% COG6 95.00 0 NM_020751.2/ interpretable range CS1>95% COG7 95.00 0 NM_153603.3/ interpretable range CS1>95% COG8 95.00 0 NM_032382.4/ interpretable range CS1>95% DAD1 95.00 0 NM_001344.3/ interpretable range CS1>95% DDOST 95.00 0 NM_005216.4/ interpretable range CS1>95% DHDDS 95.00 0 NM_024887.3/ interpretable range CS1>95% DOLK 95.00 0 NM_014908.3/ interpretable range CS1>95% DPAGT1 95.00 0 NM_001382.3/ interpretable range CS1>95% DPM1 95.00 0 NM_003859.2/ interpretable range CS1>95% DPM2 95.00 0 NM_003863.3/ interpretable range CS1>95% DPM3 95.00 0 NM_153741.1/ interpretable range CS1>95% FKRP 95.00 0 NM_024301.4/ interpretable range CS1>95% FKTN 95.00 0 NM_001079802.1/ interpretable range CS1>95% FUT1 95.00 0 NM_000148.3/ interpretable range CS1>95% GALE 95.00 0 NM_000403.3/ interpretable range CS1>95% GALK1 95.00 0 NM_000154.1/ interpretable range CS1>95% GALT 95.00 0 NM_000155.3/ interpretable range CS1>95% GFPT1 95.00 0 NM_002056.3/ interpretable range CS1>95% GMPPA 95.00 0 NM_205847.2/ interpretable range CS1>95% GMPPB 95.00 0 NM_013334.3/ interpretable range CS1>95% GNE 95.00 0 NM_001128227.2/ interpretable range CS1>95% LARGE1 95.00 0 NM_004737.6/ interpretable range CS1>95% MAGT1 95.00 0 NM_032121.5/ interpretable range CS1>95% MAN1B1 95.00 0 NM_016219.4/ interpretable range CS1>95% MGAT1 95.00 0 NM_001114618.1/ interpretable range CS1>95% MGAT2 95.00 0 NM_002408.3/ interpretable range CS1>95% MOGS 95.00 0 NM_006302.2/ interpretable range CS1>95% MPDU1 95.00 0 NM_004870.3/ interpretable range CS1>95% MPI 95.00 0 NM_002435.2/ interpretable range CS1>95% OST4 95.00 0 NM_001134693.1/ interpretable range CS1>95% PGM1 95.00 0 NM_002633.2/ interpretable range CS1>95% PGM2 95.00 0 NM_018290.3/ interpretable range CS1>95% PGM3 95.00 0 NM_001199917.1/ interpretable range CS1>95% PIGA 95.00 0 NM_002641.3/ interpretable range CS1>95% PIGL 95.00 0 NM_004278.3/ interpretable range CS1>95% PIGM 95.00 0 NM_145167.2/ interpretable range CS1>95% PIGN 95.00 0 NM_176787.4/ interpretable range CS1>95% PIGV 95.00 0 NM_017837.3/ interpretable range CS1>95% PMM2 95.00 0 NM_000303.2/ interpretable range CS1>95% POMGNT1 95.00 0 NM_017739.3/ interpretable range CS1>95% POMT1 95.00 0 NM_007171.3/ interpretable range CS1>95% POMT2 95.00 0 NM_013382.5/ interpretable range CS1>95% RFT1 95.00 0 NM_052859.3/ interpretable range CS1>95% RPN1 95.00 0 NM_002950.3/ interpretable range CS1>95% RPN2 95.00 0 NM_002951.4/ interpretable range CS1>95% SEC23B 95.00 0 NM_032985.5/ interpretable range CS1>95% SLC35A1 95.00 0 NM_006416.4/ interpretable range CS1>95% SLC35A3 95.00 0 NM_012243.2/ interpretable range CS1>95% SLC35C1 95.00 0 NM_018389.4/ interpretable range CS1>95% SLC35D1 95.00 0 NM_015139.2/ interpretable range CS1>95% SRD5A3 95.00 0 NM_024592.4/ interpretable range CS1>95% ST3GAL3 95.00 0 NM_174963.4/ interpretable range CS1>95% ST3GAL5 95.00 0 NM_003896.3/ interpretable range CS1>95% STT3A 95.00 0 NM_152713.4/ interpretable range CS1>95% STT3B 95.00 0 NM_178862.2/ interpretable range CS1>95% TMEM165 95.00 0 NM_018475.4/ interpretable range CS1>95% TUSC3 95.00 0 NM_006765.3/ interpretable range CS1>95% -
Dystonia (68 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments PRKRA 93.20 0 NM_003690.4 ARX 96.10 0 NM_139058.2 CACNA1B 97.90 0 NM_000718.3 KMT2B 98.40 0 NM_014727.2 ADCY5 98.60 0 NM_183357.2 CIZ1 98.80 0 NM_012127.2 TH 99.10 0 NM_199292.2 SMPD1 99.30 0 NM_000543.4 CP 99.50 0 NM_000096.3 PRRT2 99.60 0 NM_145239.2 SUCLG1 99.60 0 NM_003849.3 PLA2G6 99.70 0 NM_003560.3 TBCD 99.70 0 NM_005993.4 ANO3 99.70 0 NM_031418.3 TOR1A 99.70 0 NM_000113.2 GCDH 99.90 0 NM_000159.3 NPC1 99.90 0 NM_000271.4 FA2H 99.90 0 NM_024306.4 TAF1 99.90 0 NM_004606.4 SPR 99.90 0 NM_003124.4 PTS 100.00 0 NM_000317.2 DCAF17 100.00 0 NM_025000.3 ATP7B 100.00 0 NM_000053.3 SLC39A14 100.00 0 NM_015359.5 C19ORF12 100.00 0 NM_001031726.3 RELN 100.00 0 NM_005045.3 ATM 100.00 0 NM_000051.3 CACNA1A 100.00 0 NM_002143.2 CYP27A1 100.00 0 NM_000784.3 KCTD17 100.00 0 NM_001282684.1 NKX2-1 100.00 0 NM_001079668.2 PANK2 100.00 0 NM_153638.3 VPS13A 100.00 0 NM_033305.2 COL6A3 100.00 0 NM_004369.3 ACTB 100.00 0 NM_001101.4 ARSA 100.00 0 NM_000487.5 ATP1A3 100.00 0 NM_152296.5 AUH 100.00 0 NM_001698.2 BCAP31 100.00 0 NM_001139441.1 COASY 100.00 0 NM_025233.6 DDC 100.00 0 NM_000790.3 DRD2 100.00 0 NM_000795.3 FTL 100.00 0 NM_000146.3 GCH1 100.00 0 NM_000161.2 GLB1 100.00 0 NM_000404.3 GNAL 100.00 0 NM_001142339.2 GNAO1 100.00 0 NM_020988.2 GNB1 100.00 0 NM_002074.4 HEXA 100.00 0 NM_000520.5 HEXB 100.00 0 NM_000521.3 HPRT1 100.00 0 NM_000194.2 KCNMA1 100.00 0 NM_002247.3 MECR 100.00 0 NM_016011.4 MR1 100.00 0 NM_001194999.1 NPC2 100.00 0 NM_006432.3 PNKD 100.00 0 NM_015488.4 SERAC1 100.00 0 NM_032861.3 SGCE 100.00 0 NM_003919.2 SLC18A2 100.00 0 NM_003054.4 SLC19A3 100.00 0 NM_025243.3 SLC2A1 100.00 0 NM_006516.2 SLC30A10 100.00 0 NM_018713.2 SLC6A3 100.00 0 NM_001044.4 THAP1 100.00 0 NM_018105.2 TIMM8A 100.00 0 NM_004085.3 TUBB4A 100.00 0 NM_006087.3 VAC14 100.00 0 NM_018052.4 WDR45 100.00 0 NM_007075.3 -
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 (> 240 genes) - 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