Genes in panel
- AAAS 1
- ABAT 1
- ABCB11 1
- ABCB7 1
- ABCC6 1
- ABCC9 1
- ABCD1 1
- ABHD12 1
- ABHD5 1
- ACAD9 1
- ACADM 1
- ACADS 1
- ACADVL 1
- ACAN 1
- ACAT1 1
- ACOX1 1
- ACP5 1
- ACTA2 1
- ACTB 2
- ACTG1 1
- ACY1 1
- ADA 1
- ADAR 2
- ADCY5 1
- ADGRG1 1
- ADGRG6 1
- ADGRV1 2
- ADNP 1
- ADSL 1
- AFF2 1
- AFF4 2
- AFG3L2 1
- AGA 1
- AGK 1
- AGL 2
- AGPS 1
- AGXT 1
- AHDC1 2
- AHI1 1
- AIPL1 1
- AIRE 2
- AK2 2
- AKR1D1 1
- AKT1 1
- ALAD 1
- ALDH18A1 1
- ALDH1A3 1
- ALDH3A2 1
- ALDH4A1 1
- ALDH5A1 1
- ALDH7A1 1
- ALDOA 1
- ALDOB 1
- ALG1 1
- ALG12 1
- ALG3 1
- ALG6 1
- ALG8 1
- ALMS1 1
- ALPL 1
- ALS2 1
- ALX1 1
- ALX3 1
- ALX4 1
- AMER1 2
- AMPD2 1
- AMT 1
- ANKH 1
- ANKRD11 1
- ANO10 1
- ANO3 1
- ANO5 1
- ANTXR1 1
- AP1S2 1
- AP4B1 1
- AP4E1 1
- AP4M1 1
- AP4S1 1
- AP5Z1 1
- APOPT1 2
- APTX 1
- AR 1
- ARFGEF2 1
- ARG1 1
- ARHGEF9 1
- ARID1A 1
- ARID1B 1
- ARL6 1
- ARMC4 2
- ARSA 1
- ARSB 1
- ARSE 2
- ARX 1
- ASAH1 1
- ASL 1
- ASPA 1
- ASPM 1
- ASS1 1
- ASXL1 1
- ATAD3A 1
- ATCAY 1
- ATIC 1
- ATL1 1
- ATM 1
- ATN1 1
- ATP13A2 1
- ATP1A3 1
- ATP6AP2 1
- ATP6V1B1 1
- ATP7A 1
- ATP7B 1
- ATP8B1 1
- ATRX 1
- ATXN1 1
- ATXN10 1
- ATXN2 1
- ATXN3 1
- ATXN7 1
- AUH 1
- AUTS2 1
- B3GALT6 1
- B4GALNT1 1
- B4GALT7 1
- BBS1 2
- BBS10 1
- BBS12 1
- BBS2 1
- BBS4 1
- BBS5 1
- BBS7 1
- BBS9 1
- BCAP31 1
- BCKDHA 1
- BCKDHB 1
- BCL11A 1
- BCOR 1
- BCS1L 1
- BEAN1 1
- BFSP2 1
- BGN 1
- BHLHA9 1
- BICD2 1
- BIN1 1
- BLM 1
- BMP4 1
- BMPER 1
- BMPR1B 1
- BRAF 1
- BRAT1 1
- BRCA1 1
- BRCA2 1
- BRIP1 1
- BRPF1 2
- BRWD3 1
- BSCL2 2
- BSND 2
- BTD 1
- BUB1B 2
- C12orf65 2
- C19orf12 1
- C2orf71 2
- C4orf26 2
- C5orf42 2
- C8orf37 1
- C9orf72 1
- CA2 1
- CA8 2
- CACNA1A 2
- CACNA1C 1
- CACNA1S 2
- CACNB4 1
- CAMTA1 1
- CASK 2
- CASR 2
- CBL 2
- CBS 1
- CC2D1A 1
- CC2D2A 1
- CCBE1 1
- CCDC103 1
- CCDC114 2
- CCDC115 2
- CCDC39 1
- CCDC40 1
- CCDC65 1
- CCDC88C 1
- CCND2 1
- CCNO 1
- CCT5 1
- CDC45 1
- CDC6 1
- CDH15 1
- CDH23 2
- CDH3 1
- CDK13 1
- CDK5RAP2 1
- CDKL5 1
- CDKN1C 1
- CDON 1
- CDT1 1
- CENPJ 1
- CEP104 1
- CEP152 1
- CEP290 1
- CEP41 1
- CEP57 1
- CHAMP1 2
- CHD2 1
- CHD4 1
- CHD7 1
- CHM 1
- CHRDL1 1
- CHRNA2 1
- CHRNA4 2
- CHRNB2 1
- CHRNG 1
- CHST14 1
- CHST3 1
- CHSY1 1
- CHUK 1
- CIB2 1
- CISD2 1
- CKAP2L 2
- CLCN2 2
- CLCN7 1
- CLDN19 1
- CLN3 2
- CLN5 1
- CLN6 2
- CLN8 2
- CLPB 2
- CNOT3 2
- CNTNAP2 2
- COASY 1
- COG1 1
- COG4 1
- COG7 1
- COG8 1
- COL10A1 1
- COL11A1 1
- COL11A2 2
- COL18A1 1
- COL1A1 1
- COL2A1 1
- COL4A1 2
- COL4A2 1
- COL4A3 1
- COL4A3BP 2
- COL4A4 1
- COL6A1 1
- COL6A3 1
- COL9A1 1
- COL9A2 2
- COL9A3 1
- COLEC11 1
- COMP 1
- COQ2 1
- COQ8A 1
- COQ9 1
- COX10 1
- COX15 1
- COX6B1 1
- COX7B 1
- CP 1
- CPA6 1
- CPS1 2
- CRB1 1
- CRB2 2
- CREBBP 1
- CRX 2
- CRYAA 1
- CRYBA1 1
- CRYBA4 1
- CRYBB1 1
- CRYBB2 1
- CRYBB3 1
- CRYGC 1
- CRYGD 1
- CSF1R 1
- CSNK2A1 1
- CSPP1 1
- CSTB 1
- CTC1 1
- CTCF 1
- CTDP1 1
- CTNNB1 2
- CTNS 1
- CTSA 1
- CTSD 1
- CTSF 1
- CTSK 1
- CUL4B 1
- CUL7 1
- CYC1 1
- CYP1B1 2
- CYP27A1 1
- CYP2U1 1
- CYP7B1 2
- DAG1 1
- DARS 2
- DARS2 2
- DBT 1
- DCC 1
- DCHS1 1
- DCTN1 1
- DCX 2
- DDB2 1
- DDC 1
- DDHD1 1
- DDHD2 1
- DDOST 1
- DDR2 1
- DDX11 1
- DDX3X 2
- DEAF1 1
- DEPDC5 1
- DHCR24 1
- DHCR7 1
- DHFR 1
- DHODH 1
- DIS3L2 1
- DKC1 1
- DLAT 1
- DLD 1
- DLG3 1
- DLL3 1
- DLL4 1
- DMD 1
- DMP1 1
- DMPK 1
- DNAAF3 1
- DNAAF4 2
- DNAJC12 1
- DNM2 1
- DNMT1 1
- DNMT3A 1
- DNMT3B 1
- DOCK8 1
- DOLK 1
- DPAGT1 1
- DPM1 1
- DRD2 1
- DSPP 1
- DSTYK 2
- DVL1 2
- DVL3 1
- DYM 1
- DYNC1H1 1
- DYNC2H1 1
- DYRK1A 1
- EBF3 1
- EBP 1
- ECEL1 1
- EDA 1
- EDNRA 1
- EDNRB 2
- EFHC1 1
- EFNB1 1
- EFTUD2 1
- EGR2 1
- EHMT1 1
- EIF2AK3 1
- EIF4A3 1
- EIF4G1 1
- ELAC2 1
- ELN 1
- ELOVL4 1
- ELOVL5 1
- ENPP1 1
- EOGT 1
- EP300 1
- EPG5 1
- EPM2A 1
- ERCC1 1
- ERCC2 1
- ERCC3 1
- ERCC4 1
- ERCC5 1
- ERCC6 2
- ERCC6L2 2
- ERCC8 1
- ERF 1
- ERLIN2 1
- ESCO2 1
- ETFA 1
- ETFB 1
- ETFDH 1
- ETHE1 1
- EVC 1
- EVC2 1
- EXOSC3 1
- EXT1 1
- EXT2 1
- EXTL3 1
- EYA1 1
- EZH2 1
- FA2H 1
- FAH 1
- FAM111A 1
- FAM111B 1
- FAM126A 1
- FAM161A 1
- FAM20A 1
- FAM20C 1
- FAM58A 2
- FANCA 1
- FANCB 1
- FANCC 1
- FANCD2 1
- FANCE 1
- FANCF 1
- FANCG 1
- FANCI 1
- FAR1 2
- FAT4 1
- FBN1 1
- FBN2 1
- FBP1 1
- FBXL4 1
- FBXO7 1
- FGD1 2
- FGD4 1
- FGF10 1
- FGF12 1
- FGF14 1
- FGF3 2
- FGFR1 1
- FGFR2 1
- FGFR3 1
- FH 1
- FHL1 1
- FIG4 1
- FKBP14 1
- FKRP 2
- FKTN 2
- FLAD1 1
- FLNA 1
- FLNB 1
- FLT4 2
- FLVCR1 1
- FLVCR2 1
- FMR1 1
- FOLR1 1
- FOXC1 2
- FOXC2 2
- FOXE1 1
- FOXE3 1
- FOXF1 1
- FOXG1 1
- FOXN1 1
- FOXP1 1
- FOXP3 1
- FOXRED1 1
- FRAS1 1
- FREM1 1
- FREM2 1
- FRMD7 1
- FTCD 1
- FTL 2
- FTSJ1 1
- FUCA1 1
- FXN 2
- FYCO1 1
- FZD6 1
- GAA 1
- GABRA1 1
- GABRB3 1
- GABRG2 1
- GAD1 1
- GALC 1
- GALE 1
- GALK1 1
- GALNS 1
- GALT 1
- GAMT 1
- GAS8 1
- GATA2 2
- GATA4 2
- GATA6 1
- GATAD2B 1
- GATM 1
- GBA 1
- GBA2 1
- GCDH 1
- GCH1 1
- GDAP1 2
- GDF5 1
- GDF6 1
- GDI1 1
- GFAP 1
- GFM1 1
- GHR 1
- GJA1 1
- GJA3 1
- GJA8 1
- GJB1 1
- GJB2 2
- GJB3 1
- GJC2 2
- GK 1
- GLB1 1
- GLDC 1
- GLE1 1
- GLI2 1
- GLI3 2
- GLIS3 1
- GLMN 1
- GLUD1 1
- GLUL 1
- GM2A 1
- GMPPA 1
- GMPPB 2
- GNAI1 1
- GNAI3 1
- GNAL 1
- GNAO1 1
- GNAS 2
- GNB1 1
- GNPAT 1
- GNPTAB 2
- GNPTG 1
- GNS 1
- GORAB 1
- GOSR2 1
- GPC3 1
- GPR179 1
- GPSM2 1
- GRHL3 1
- GRIA3 1
- GRID2 1
- GRIK2 1
- GRIN1 1
- GRIN2A 2
- GRIN2B 2
- GRM1 1
- GRM6 2
- GRN 1
- GTF2H5 1
- GTPBP3 1
- GUCY2C 1
- GUSB 1
- HACE1 1
- HADH 1
- HADHA 1
- HAX1 1
- HCCS 1
- HCFC1 2
- HCN1 1
- HDAC4 1
- HDAC8 1
- HECW2 1
- HEXA 1
- HEXB 1
- HGSNAT 1
- HIBCH 1
- HINT1 1
- HIVEP2 1
- HK1 1
- HLCS 1
- HMGCL 1
- HMGCS2 1
- HNF1B 1
- HNF4A 1
- HNRNPU 2
- HOXA1 2
- HOXA13 1
- HOXC13 1
- HOXD13 1
- HPGD 1
- HPRT1 1
- HPS1 1
- HPSE2 1
- HR 1
- HRAS 1
- HSD17B10 1
- HSD17B4 1
- HSD3B7 1
- HSF4 1
- HSPD1 1
- HSPG2 1
- HTT 1
- HUWE1 1
- HYAL1 1
- HYDIN 1
- HYLS1 1
- IDS 1
- IDUA 1
- IER3IP1 1
- IFIH1 1
- IFITM5 1
- IFT122 1
- IFT140 1
- IFT172 1
- IFT43 1
- IFT80 2
- IGF1 2
- IGF1R 1
- IGF2 1
- IGHMBP2 1
- IGSF1 1
- IHH 1
- IKBKG 1
- IL11RA 1
- IL1RAPL1 1
- IMPAD1 1
- INPP5E 2
- INPP5K 1
- INPPL1 1
- IQSEC2 1
- IRF6 1
- ISPD 2
- ITGA3 2
- ITGA7 1
- ITPR1 1
- IVD 1
- JAG1 1
- JAGN1 2
- JAK3 1
- KANSL1 1
- KARS 2
- KAT6A 2
- KAT6B 1
- KBTBD13 1
- KCNA1 1
- KCNA2 2
- KCNB1 1
- KCNC1 1
- KCNC3 1
- KCND3 1
- KCNE1 2
- KCNJ10 1
- KCNJ11 1
- KCNQ1 1
- KCNQ2 1
- KCNQ3 1
- KCNT1 1
- KCTD1 1
- KCTD7 2
- KDM5B 2
- KDM5C 1
- KDM6A 1
- KIAA0586 1
- KIF11 2
- KIF1A 1
- KIF1BP 2
- KIF1C 1
- KIF22 1
- KIF5A 1
- KIF7 1
- KIRREL3 1
- KIT 1
- KLF1 2
- KLHL40 1
- KMT2A 1
- KMT2B 1
- KMT2D 1
- KNL1 1
- KRAS 1
- KRIT1 2
- L1CAM 1
- L2HGDH 1
- LAMA1 1
- LAMA2 1
- LAMC3 1
- LAMP2 1
- LARGE1 2
- LARP7 1
- LBR 1
- LDB3 1
- LEMD3 1
- LFNG 1
- LGI1 1
- LGI4 1
- LHX3 1
- LHX4 1
- LIG4 1
- LITAF 1
- LMBRD1 1
- LMNA 1
- LMX1B 1
- LOXHD1 1
- LRP2 1
- LRP4 1
- LRP5 1
- LRPPRC 1
- LRRC6 1
- LRRK2 1
- LTBP2 2
- LTBP3 1
- LYST 1
- MAB21L2 1
- MAF 1
- MAFB 1
- MAGEL2 1
- MAN2B1 1
- MANBA 1
- MAOA 1
- MAP2K1 1
- MAP2K2 1
- MAP3K1 1
- MAPRE2 1
- MAPT 1
- MARS2 1
- MASP1 1
- MATN3 2
- MC2R 1
- MCCC1 1
- MCCC2 1
- MCEE 1
- MCOLN1 1
- MCPH1 1
- MDH2 1
- MECP2 1
- MECR 1
- MED12 1
- MED17 2
- MEF2C 2
- MEGF10 1
- MEGF8 1
- MESP2 1
- MFRP 2
- MFSD2A 2
- MFSD8 2
- MGAT2 1
- MGP 1
- MICU1 1
- MID1 1
- MITF 2
- MKKS 1
- MKS1 1
- MLC1 1
- MLYCD 1
- MMAA 1
- MMAB 1
- MMACHC 1
- MMADHC 1
- MMP13 1
- MMP21 1
- MNX1 1
- MOCS1 1
- MOCS2 1
- MPDU1 1
- MPI 1
- MPLKIP 1
- MPV17 1
- MPZ 2
- MRE11 2
- MSL3 2
- MSX1 1
- MSX2 1
- MT-ATP6 2
- MTHFR 1
- MTM1 1
- MTMR2 1
- MT-ND1 1
- MT-ND4 1
- MTO1 1
- MTOR 1
- MTPAP 1
- MTR 1
- MTRR 1
- MT-TK 2
- MTTP 2
- MUT 2
- MYBPC1 2
- MYCN 1
- MYH3 1
- MYH6 2
- MYH8 2
- MYH9 2
- MYO5A 1
- MYO5B 1
- MYO7A 1
- MYT1L 1
- NAA10 1
- NACC1 1
- NAGA 1
- NAGLU 1
- NAGS 1
- NALCN 1
- NANS 1
- NBAS 1
- NBN 1
- NDE1 1
- NDP 1
- NDRG1 1
- NDUFA1 1
- NDUFS1 1
- NDUFS4 1
- NDUFS7 1
- NDUFS8 1
- NDUFV1 1
- NEFL 2
- NEK1 1
- NEU1 1
- NEXMIF 1
- NF1 2
- NFIX 1
- NFU1 1
- NGLY1 1
- NHEJ1 1
- NHLRC1 1
- NHS 1
- NIPA1 1
- NIPBL 1
- NKX2-1 2
- NKX2-5 1
- NKX3-2 1
- NMNAT1 1
- NODAL 1
- NOG 1
- NONO 1
- NOP56 1
- NOTCH2 1
- NPC1 1
- NPC2 1
- NPHP1 1
- NPHP3 1
- NPHP4 1
- NPHS1 1
- NPHS2 1
- NPR2 1
- NR2F1 1
- NR2F2 1
- NR5A1 1
- NRAS 1
- NSD1 1
- NSDHL 1
- NT5C2 1
- NT5C3A 1
- NTRK1 1
- NUBPL 1
- NUP107 1
- NYX 1
- OBSL1 1
- OCRL 1
- OFD1 1
- OPA3 2
- OPHN1 2
- ORC1 1
- ORC4 1
- ORC6 1
- OTC 1
- OTOGL 1
- OTUD6B 1
- OTULIN 1
- OTX2 2
- OXCT1 1
- P3H1 1
- PACS1 1
- PAFAH1B1 1
- PAH 1
- PAK3 1
- PALB2 1
- PANK2 1
- PAPSS2 1
- PARK7 1
- PARN 1
- PAX2 1
- PAX3 2
- PAX6 2
- PAX8 2
- PAX9 1
- PC 1
- PCBD1 1
- PCCA 1
- PCCB 1
- PCDH19 1
- PCNT 1
- PCYT1A 1
- PDCD10 1
- PDE4D 1
- PDE6G 1
- PDGFB 1
- PDGFRB 1
- PDHA1 1
- PDHX 1
- PDSS2 1
- PDYN 1
- PEPD 1
- PEX1 1
- PEX10 1
- PEX12 1
- PEX13 1
- PEX14 1
- PEX16 1
- PEX19 1
- PEX2 1
- PEX26 1
- PEX3 1
- PEX5 1
- PEX6 1
- PEX7 1
- PGAP1 1
- PGAP2 1
- PGAP3 1
- PGK1 1
- PGM1 1
- PGM3 1
- PHF6 1
- PHF8 1
- PHGDH 1
- PHOX2B 1
- PIEZO2 1
- PIGA 2
- PIGL 1
- PIGN 1
- PIGO 1
- PIGT 2
- PIGV 1
- PIK3CA 1
- PIK3R1 2
- PIK3R2 1
- PINK1 1
- PITX2 1
- PITX3 1
- PKD1L1 1
- PKHD1 1
- PLA2G6 2
- PLAA 1
- PLCB1 1
- PLCE1 1
- PLEC 1
- PLK4 1
- PLOD1 1
- PLOD2 1
- PLP1 1
- PMM2 1
- PMP22 2
- PMS2 1
- PNKD 1
- PNKP 1
- PNPLA6 1
- PNPO 1
- PNPT1 1
- POC1A 1
- POC1B 1
- POGZ 1
- POLD1 2
- POLG 2
- POLR1C 1
- POLR1D 1
- POLR3A 2
- POLR3B 2
- POMGNT1 2
- POMGNT2 2
- POMT1 2
- POMT2 2
- PORCN 1
- POU1F1 1
- PPA2 1
- PPM1D 1
- PPP1CB 2
- PPP2R1A 1
- PPP2R2B 1
- PPP2R5D 1
- PPT1 1
- PQBP1 1
- PRDM12 2
- PRICKLE1 1
- PRICKLE2 1
- PRKAR1A 1
- PRKCG 1
- PRKD1 2
- PRKN 2
- PRKRA 1
- PRMT7 1
- PROP1 1
- PRPS1 1
- PRRT2 2
- PRSS12 1
- PRSS56 1
- PRUNE1 2
- PRX 1
- PSAP 1
- PSEN1 1
- PSMB8 1
- PSMD12 1
- PSPH 1
- PTCH1 1
- PTCHD1 1
- PTDSS1 1
- PTEN 1
- PTF1A 1
- PTH1R 1
- PTHLH 1
- PTPN11 1
- PTS 1
- PUF60 1
- PURA 1
- PYCR1 1
- PYGL 1
- QARS 2
- QDPR 1
- QRICH1 2
- RAB18 1
- RAB23 1
- RAB39B 1
- RAB3GAP1 1
- RAB3GAP2 1
- RAD21 1
- RAF1 1
- RAI1 1
- RAPSN 2
- RARB 1
- RARS2 1
- RASA1 2
- RAX 1
- RBM8A 1
- RECQL4 1
- REEP1 1
- REEP2 1
- RELN 1
- RERE 2
- RET 2
- RETREG1 1
- RFX6 1
- RIPK4 1
- RIT1 1
- RMRP 2
- RNASEH2A 1
- RNASEH2B 1
- RNASEH2C 1
- RNASET2 1
- RNF135 1
- RNF216 1
- RNU4ATAC 2
- ROBO3 1
- ROGDI 1
- ROR2 2
- RPE65 1
- RPGRIP1 1
- RPGRIP1L 1
- RPS19 1
- RPS6KA3 2
- RSPH1 1
- RSPH3 2
- RSPO4 1
- RTEL1 1
- RTN2 1
- RTN4IP1 1
- RTTN 1
- RUNX2 2
- RYR1 2
- SACS 1
- SALL1 2
- SALL4 1
- SAMHD1 1
- SATB2 1
- SBDS 1
- SBF2 1
- SC5D 1
- SCARB2 1
- SCARF2 1
- SCN11A 1
- SCN1A 1
- SCN1B 1
- SCN2A 2
- SCN4A 2
- SCN8A 1
- SCN9A 1
- SCO1 1
- SCO2 2
- SDCCAG8 1
- SDHA 2
- SDHAF1 1
- SEC23B 1
- SET 2
- SETBP1 1
- SETD5 2
- SETX 2
- SF3B4 1
- SGCE 1
- SGSH 1
- SH3PXD2B 1
- SH3TC2 2
- SHANK3 1
- SHH 2
- SHOC2 1
- SHOX 2
- SIGMAR1 1
- SIK1 2
- SIL1 1
- SIN3A 1
- SIX1 1
- SIX3 1
- SIX5 1
- SKI 1
- SKIV2L 1
- SLC12A6 1
- SLC13A5 1
- SLC16A2 1
- SLC17A5 1
- SLC19A3 2
- SLC20A2 1
- SLC22A5 1
- SLC25A15 1
- SLC25A20 1
- SLC25A22 1
- SLC25A26 1
- SLC25A38 1
- SLC26A2 2
- SLC27A4 1
- SLC2A1 2
- SLC2A10 1
- SLC2A2 2
- SLC33A1 1
- SLC35A2 1
- SLC35C1 1
- SLC35D1 1
- SLC39A13 1
- SLC39A8 1
- SLC46A1 1
- SLC4A1 1
- SLC4A11 1
- SLC4A4 1
- SLC52A3 1
- SLC5A5 1
- SLC6A1 2
- SLC6A17 2
- SLC6A19 1
- SLC6A3 1
- SLC6A5 1
- SLC6A8 1
- SLC9A6 1
- SLX4 1
- SMAD3 1
- SMAD4 1
- SMARCA2 1
- SMARCA4 2
- SMARCAL1 1
- SMARCB1 2
- SMC1A 1
- SMC3 1
- SMCHD1 1
- SMO 1
- SMOC1 1
- SMPD1 2
- SNCA 1
- SNORD118 1
- SNRPB 1
- SNX14 2
- SON 1
- SOS1 1
- SOX10 1
- SOX17 1
- SOX2 2
- SOX3 2
- SOX9 1
- SPAG1 1
- SPART 1
- SPAST 1
- SPATA5 2
- SPEG 1
- SPG11 1
- SPG21 1
- SPG7 1
- SPR 1
- SPRED1 1
- SPTAN1 1
- SPTBN2 1
- SPTLC2 1
- SRCAP 1
- SRD5A3 1
- SRY 1
- ST3GAL3 2
- ST3GAL5 1
- STAG1 2
- STAMBP 1
- STAR 1
- STAT1 1
- STIL 1
- STRA6 1
- STRADA 1
- STS 1
- STUB1 1
- STX1B 1
- STXBP1 1
- SUCLG1 2
- SUMF1 1
- SURF1 1
- SYNE1 1
- SYNGAP1 1
- SYNJ1 1
- SYP 1
- TAB2 1
- TAF1 1
- TANGO2 1
- TARDBP 1
- TAT 1
- TAZ 1
- TBC1D24 2
- TBCD 1
- TBCE 1
- TBCK 1
- TBP 1
- TBX1 1
- TBX15 1
- TBX20 1
- TBX22 2
- TBX3 1
- TBX4 1
- TBX5 1
- TBXAS1 2
- TCF12 1
- TCF20 2
- TCF4 1
- TCN2 1
- TCOF1 1
- TCTN3 1
- TECPR2 1
- TEK 1
- TERT 1
- TFAP2A 1
- TFAP2B 1
- TFG 1
- TGDS 2
- TGFB1 2
- TGFB2 1
- TGFB3 1
- TGFBR1 1
- TGFBR2 1
- TGIF1 1
- TGM6 1
- TH 1
- THAP1 1
- THRA 1
- TIMM8A 1
- TINF2 1
- TK2 1
- TMCO1 2
- TMEM126B 1
- TMEM165 1
- TMEM237 1
- TMEM240 1
- TMEM5 2
- TMEM67 1
- TMEM70 1
- TMPRSS6 1
- TOE1 1
- TOR1A 1
- TP63 1
- TPP1 1
- TRAPPC2 2
- TRAPPC9 1
- TREX1 1
- TRIM32 2
- TRIM37 1
- TRIO 1
- TRIP11 1
- TRIP12 2
- TRMT10A 1
- TRPM1 2
- TRPS1 1
- TRPV4 1
- TSC1 1
- TSC2 1
- TSEN54 2
- TSHB 1
- TSHR 2
- TSPAN7 1
- TTBK2 1
- TTC19 1
- TTC37 1
- TTC7A 1
- TTC8 1
- TTPA 1
- TUBA1A 1
- TUBA8 1
- TUBB 1
- TUBB2A 1
- TUBB2B 1
- TUBB4A 1
- TUBGCP6 1
- TUSC3 1
- TWIST1 2
- TWIST2 1
- TXNL4A 1
- TYR 2
- TYRP1 2
- UBA5 1
- UBE2A 1
- UBE3A 1
- UBE3B 1
- UBR1 1
- UGT1A1 2
- UMPS 1
- UNC80 2
- UPF3B 1
- UROC1 1
- UROS 1
- USB1 1
- UVSSA 1
- VAMP1 1
- VDR 1
- VIPAS39 1
- VLDLR 2
- VPS13B 1
- VPS33B 1
- VPS35 1
- VSX2 1
- WAC 1
- WASHC5 1
- WDPCP 1
- WDR11 1
- WDR19 1
- WDR34 2
- WDR35 2
- WDR45 1
- WDR60 2
- WDR62 2
- WNT1 1
- WNT10B 1
- WNT3 1
- WNT5A 1
- WNT7A 1
- WRAP53 1
- WT1 1
- WWOX 1
- XPA 1
- XPC 1
- XRCC4 2
- XYLT1 1
- ZBTB18 1
- ZBTB20 1
- ZC4H2 1
- ZDHHC9 1
- ZEB2 1
- ZFP57 1
- ZFYVE26 1
- ZIC1 1
- ZIC2 1
- ZIC3 2
- ZMPSTE24 1
- ZNF148 1
- ZNF711 1
STRs in panel
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This Panel is marked as Internal
BRIDGE_SPEED_NEURO_20170705
Gene: ASAH1 Green List (high evidence)
ASAH1 (N-acylsphingosine amidohydrolase 1)
EnsemblGeneIds (GRCh38): ENSG00000104763
EnsemblGeneIds (GRCh37): ENSG00000104763
OMIM: 613468, Gene2Phenotype
ASAH1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000104763
EnsemblGeneIds (GRCh37): ENSG00000104763
OMIM: 613468, Gene2Phenotype
ASAH1 is in 12 panels
1 review
BRIDGE consortium (NIHRBR-RD)
Green List (high evidence)
This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf;in_omim_20150205_epilepsies . Main mutation mechanism : All missense/in frame; Loss of functionCreated: 28 Jul 2017, 8:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- 25529582
- omim.org
Mode of pathogenicity
Created: 2 Aug 2017, 1:17 p.m.
Panel version: 0.191
Panel version: 0.191
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- BRIDGE study SPEED NEURO Tier1 Gene
- Expert Review Green
- Phenotypes
-
- Farber lipogranulomatosis, 228000
- Spinal muscular atrophy, with progressive myoclonic epilepsy, 159950
- OMIM
- 613468
- Clinvar variants
- Variants in ASAH1
- Penetrance
- Complete
- Panels with this gene
-
- Likely inborn error of metabolism
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Familial pulmonary fibrosis
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Paediatric motor neuronopathies
- Fetal anomalies
- DDG2P
- Fetal hydrops
- Childhood onset dystonia, chorea or related movement disorder
- Lysosomal storage disorder
History Filter Activity
28 Jul 2017, Gel status: 4
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for ASAH1 were set to Farber lipogranulomatosis, 228000; Spinal muscular atrophy, with progressive myoclonic epilepsy, 159950
27 Jul 2017, Gel status: 4
Added New Source
Louise Daugherty (Genomics England Curator)ASAH1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green
27 Jul 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)ASAH1 was created by LouiseD