- Panels
- Intellectual disability
- SLC12A5
Genes in panel
- AAAS 3
- AARS 5
- AASS 3
- ABAT 6
- ABCA2 3
- ABCC9 10
- ABCD1 4
- ABCD4 2
- ABHD16A 3
- ABHD5 5
- ACACA 2
- ACAD9 3
- ACADM 4
- ACADS 3
- ACBD6 6
- ACER3 3
- ACO2 5
- ACOX1 4
- ACSL4 3
- ACTB 3
- ACTG1 3
- ACTL6A 5
- ACTL6B 5
- ACY1 3
- ADAM22 2
- ADAR 5
- ADARB1 3
- ADAT3 2
- ADD1 3
- ADD3 3
- ADGRG1 3
- ADGRL1 2
- ADK 4
- ADNP 3
- ADSL 3
- AFF2 5
- AFF3 4
- AFF4 6
- AGA 3
- AGO1 7
- AGO2 3
- AGTPBP1 2
- AHCY 5
- AHDC1 4
- AHI1 6
- AIFM1 2
- AIMP1 2
- AKT3 3
- ALDH18A1 3
- ALDH3A2 3
- ALDH4A1 3
- ALDH5A1 3
- ALDH7A1 5
- ALG1 3
- ALG11 5
- ALG12 3
- ALG13 2
- ALG3 4
- ALG6 4
- ALG8 4
- ALG9 7
- ALKBH8 7
- ALMS1 5
- AMER1 4
- AMPD2 5
- AMT 3
- ANK2 3
- ANK3 7
- ANKRD11 5
- ANKRD17 3
- ANO4 2
- AP1G1 3
- AP1S1 2
- AP1S2 4
- AP2M1 3
- AP3B1 4
- AP3B2 2
- AP4B1 3
- AP4E1 3
- AP4M1 3
- AP4S1 3
- APC2 2
- APOPT1 5
- ARCN1 2
- ARF1 5
- ARF3 4
- ARFGEF1 4
- ARFGEF2 3
- ARG1 3
- ARHGEF9 4
- ARID1A 5
- ARID1B 5
- ARID2 6
- ARL13B 6
- ARL6 3
- ARMC9 1
- ARSA 4
- ARSB 5
- ARSE 5
- ARV1 3
- ARX 4
- ASAH1 3
- ASH1L 6
- ASL 5
- ASNS 2
- ASPA 3
- ASPM 3
- ASS1 3
- ASXL1 4
- ASXL2 2
- ASXL3 3
- ATAD1 3
- ATAD3A 3
- ATG7 2
- ATIC 3
- ATM 5
- ATN1 5
- ATP13A2 4
- ATP1A1 2
- ATP1A2 5
- ATP1A3 7
- ATP2B1 4
- ATP6AP2 6
- ATP6V0A1 6
- ATP6V0A2 4
- ATP6V0C 5
- ATP6V1A 2
- ATP6V1B2 3
- ATP7A 3
- ATP8A2 5
- ATP9A 4
- ATR 2
- ATRX 4
- ATXN7L3 1
- AUH 3
- AUTS2 3
- B3GALNT2 2
- B3GLCT 4
- B4GALNT1 3
- B4GALT7 4
- B9D1 7
- B9D2 2
- BAP1 3
- BAZ2B 2
- BBS1 3
- BBS10 3
- BBS12 3
- BBS2 3
- BBS4 3
- BBS5 3
- BBS7 3
- BBS9 3
- BCAP31 3
- BCAS3 3
- BCKDHA 3
- BCKDHB 3
- BCKDK 2
- BCL11A 4
- BCL11B 2
- BCOR 3
- BCS1L 6
- BICRA 3
- BLM 5
- BLOC1S1 2
- BMP4 4
- BOLA3 2
- BORCS8 2
- BPTF 2
- BRAF 3
- BRAT1 5
- BRD4 4
- BRF1 2
- BRPF1 3
- BRSK2 2
- BRWD3 3
- BSCL2 6
- BTD 3
- BUB1 3
- BUB1B 3
- C12orf4 3
- C12orf57 2
- C12orf65 4
- C2CD3 7
- C2orf69 3
- C5orf42 4
- CA2 5
- CA8 3
- CACNA1A 6
- CACNA1B 3
- CACNA1C 6
- CACNA1D 5
- CACNA1E 2
- CACNA1G 4
- CACNA1I 4
- CACNA2D1 3
- CAD 2
- CAMK2A 5
- CAMK2B 1
- CAMK2D 1
- CAMK4 3
- CAMSAP1 1
- CAMTA1 3
- CAPN15 3
- CAPRIN1 8
- CARS 4
- CASK 3
- CASP2 5
- CBL 3
- CBS 4
- CC2D1A 3
- CC2D2A 3
- CCBE1 3
- CCDC22 2
- CCDC32 5
- CCDC47 2
- CCDC82 3
- CCDC88A 4
- CCDC88C 4
- CCND2 4
- CDC42 2
- CDC6 4
- CDH11 3
- CDH2 5
- CDK10 2
- CDK13 4
- CDK16 3
- CDK19 3
- CDK5RAP2 3
- CDK8 5
- CDKL5 3
- CDON 3
- CELF2 2
- CENPF 1
- CENPJ 4
- CEP104 5
- CEP120 3
- CEP135 2
- CEP152 3
- CEP290 3
- CEP41 3
- CEP55 3
- CEP57 3
- CEP83 2
- CEP85L 2
- CHAMP1 3
- CHD2 3
- CHD3 2
- CHD4 4
- CHD5 3
- CHD7 3
- CHD8 2
- CHKA 4
- CHKB 3
- CHMP1A 5
- CIAO1 2
- CIC 5
- CIT 2
- CKAP2L 3
- CLCN3 3
- CLCN4 6
- CLCN6 1
- CLDN11 2
- CLDN5 3
- CLEC16A 3
- CLN3 3
- CLN5 3
- CLN6 3
- CLN8 3
- CLP1 2
- CLPB 6
- CLTC 2
- CNKSR2 3
- CNNM2 1
- CNOT1 2
- CNOT2 2
- CNOT3 6
- CNOT9 2
- CNTNAP1 2
- CNTNAP2 3
- COASY 3
- COG1 3
- COG4 6
- COG5 7
- COG6 2
- COG7 3
- COG8 3
- COL4A1 3
- COL4A2 3
- COL4A3BP 4
- COLEC11 3
- COPB2 2
- COQ4 3
- COQ8A 4
- COX10 3
- COX11 3
- COX15 3
- CPE 4
- CPLX1 3
- CPS1 3
- CRADD 4
- CRB2 3
- CREBBP 3
- CRELD1 3
- CSDE1 2
- CSNK1G1 6
- CSNK2A1 4
- CSNK2B 3
- CSPP1 4
- CSTB 5
- CTBP1 3
- CTCF 3
- CTDP1 4
- CTNNA2 2
- CTNNB1 3
- CTNND1 2
- CTR9 4
- CTSA 5
- CTSD 3
- CTU2 4
- CUL3 4
- CUL4B 3
- CUX1 2
- CUX2 8
- CWC27 2
- CWF19L1 2
- CXorf56 6
- CYB5R3 2
- CYC1 4
- CYFIP2 2
- D2HGDH 6
- DAG1 7
- DAGLA 3
- DARS 5
- DARS2 3
- DBT 4
- DCAF17 3
- DCHS1 4
- DCPS 2
- DCX 3
- DDB1 2
- DDC 5
- DDHD2 3
- DDX11 4
- DDX17 3
- DDX23 5
- DDX3X 4
- DDX59 2
- DDX6 2
- DEAF1 4
- DEGS1 2
- DENND5B 2
- DEPDC5 4
- DHCR24 3
- DHCR7 3
- DHDDS 2
- DHFR 3
- DHPS 2
- DHRSX 7
- DHTKD1 3
- DHX30 5
- DHX37 5
- DHX9 2
- DIAPH1 1
- DIS3L2 4
- DKC1 4
- DLD 3
- DLG3 3
- DLG4 6
- DLL1 4
- DMD 5
- DMXL2 3
- DNAJC12 2
- DNAJC19 4
- DNM1 3
- DNM1L 3
- DNMT3A 4
- DNMT3B 3
- DOCK3 3
- DOCK4 2
- DOCK6 4
- DOCK7 3
- DOHH 2
- DOLK 4
- DPAGT1 3
- DPF2 5
- DPH1 2
- DPH5 3
- DPM1 3
- DPM2 3
- DPYD 3
- DPYS 3
- DPYSL5 3
- DTYMK 3
- DYM 3
- DYNC1H1 4
- DYRK1A 3
- EARS2 2
- EBF3 4
- EBP 5
- EDEM3 2
- EED 2
- EEF1A2 3
- EFTUD2 3
- EHMT1 3
- EIF2AK2 4
- EIF2AK3 3
- EIF2S3 4
- EIF3F 2
- EIF4A2 1
- EIF4A3 3
- EIF5A 3
- ELAC2 3
- ELOVL4 3
- ELP2 4
- EMC1 6
- EMC10 4
- EML1 1
- EMX2 6
- ENTPD1 6
- EP300 3
- EPG5 3
- ERBB4 2
- ERCC1 3
- ERCC2 3
- ERCC3 3
- ERCC5 3
- ERCC6 4
- ERCC6L2 4
- ERCC8 3
- ERI1 2
- ERLIN2 5
- ESAM 3
- ESCO2 3
- ETFA 4
- ETFB 3
- ETFDH 4
- ETHE1 3
- EXOSC3 3
- EXT2 6
- EXTL3 4
- EZH1 1
- EZH2 4
- FAM126A 4
- FAM177A1 1
- FAM20C 4
- FAM50A 3
- FAR1 6
- FARS2 3
- FARSA 3
- FAT4 4
- FBRSL1 3
- FBXL3 2
- FBXL4 6
- FBXO11 2
- FBXO28 3
- FBXO31 3
- FBXW11 3
- FBXW7 5
- FEM1B 3
- FGD1 3
- FGF12 3
- FH 3
- FIBP 3
- FIG4 4
- FILIP1 3
- FKRP 3
- FKTN 3
- FLVCR2 4
- FMN2 2
- FMR1 5
- FOLR1 4
- FOSL2 3
- FOXG1 3
- FOXP1 3
- FOXP2 2
- FOXRED1 3
- FRA10AC1 2
- FRMD5 1
- FRMPD4 7
- FTCD 5
- FTSJ1 3
- FUCA1 3
- FUK 5
- FUT8 2
- FZR1 2
- GABBR2 6
- GABRA1 4
- GABRA2 2
- GABRA5 2
- GABRB2 2
- GABRB3 4
- GABRD 2
- GABRG2 3
- GAD1 5
- GALC 4
- GALE 3
- GALNT2 1
- GALT 3
- GAMT 3
- GAN 3
- GATAD2B 3
- GATM 3
- GCDH 3
- GCH1 3
- GCSH 5
- GDI1 3
- GEMIN4 4
- GEMIN5 3
- GFAP 3
- GFER 4
- GFM1 4
- GJC2 4
- GK 4
- GLB1 3
- GLDC 3
- GLI2 3
- GLIS3 3
- GLRA2 5
- GLUL 5
- GLYCTK 1
- GM2A 4
- GMPPA 3
- GMPPB 6
- GNAI1 3
- GNAI2 4
- GNAO1 5
- GNAS 5
- GNB1 4
- GNB2 2
- GNB5 2
- GNPAT 3
- GNPTAB 5
- GNPTG 4
- GNS 3
- GPAA1 4
- GPC3 3
- GPC4 3
- GPT2 2
- GRIA1 7
- GRIA2 9
- GRIA3 3
- GRIA4 2
- GRID2 4
- GRIK2 6
- GRIN1 5
- GRIN2A 3
- GRIN2B 3
- GRIN2D 2
- GRM1 4
- GRM7 2
- GTF2E2 3
- GTF2H5 3
- GTF3C5 2
- GTPBP2 2
- GTPBP3 4
- GUSB 3
- H3F3A 4
- H3F3B 4
- HACE1 4
- HADHA 4
- HCCS 5
- HCFC1 3
- HCN1 4
- HDAC3 3
- HDAC4 6
- HDAC8 3
- HECTD4 2
- HECW2 1
- HEPACAM 3
- HERC1 2
- HERC2 4
- HESX1 2
- HEXA 3
- HEXB 3
- HGSNAT 3
- HIBCH 4
- HID1 4
- HIST1H1E 2
- HIST1H4C 5
- HIST1H4E 5
- HIVEP2 5
- HK1 7
- HLCS 4
- HMGB1 3
- HMGCL 6
- HNMT 5
- HNRNPH1 4
- HNRNPH2 2
- HNRNPK 3
- HNRNPR 3
- HNRNPU 4
- HOXA1 3
- HPD 2
- HPDL 3
- HPRT1 3
- HRAS 3
- HSD17B10 5
- HSD17B4 4
- HSPD1 4
- HTRA2 1
- HUWE1 5
- IARS 3
- IBA57 1
- IDH2 2
- IDS 3
- IDUA 3
- IER3IP1 5
- IFIH1 4
- IFT172 4
- IGF1 3
- IGF1R 4
- IKBKG 5
- IL1RAPL1 4
- IMPDH2 3
- INPP5E 4
- INPP5K 2
- INTS1 3
- INTS11 2
- IQSEC2 5
- IREB2 4
- IRF2BPL 2
- IRX5 2
- ISPD 4
- ITPA 2
- ITPR1 9
- ITSN1 2
- IVD 4
- JAM3 2
- JARID2 5
- KANSL1 3
- KARS 5
- KAT5 3
- KAT6A 3
- KAT6B 4
- KAT8 5
- KCNA2 4
- KCNA3 2
- KCNB1 4
- KCNB2 2
- KCNC1 4
- KCND2 2
- KCNH1 4
- KCNH5 6
- KCNJ10 3
- KCNJ11 4
- KCNJ6 6
- KCNK3 1
- KCNK9 4
- KCNMA1 8
- KCNN2 3
- KCNN3 4
- KCNQ2 3
- KCNQ3 8
- KCNQ5 3
- KCNT1 3
- KCNT2 3
- KCTD3 2
- KCTD7 3
- KDM1A 4
- KDM2B 4
- KDM3B 5
- KDM4B 3
- KDM5A 7
- KDM5B 9
- KDM5C 4
- KDM6A 3
- KDM6B 6
- KIAA0586 3
- KIAA1109 2
- KIDINS220 4
- KIF11 3
- KIF14 2
- KIF1A 4
- KIF1BP 8
- KIF21B 3
- KIF2A 6
- KIF4A 6
- KIF5A 4
- KIF5C 2
- KIF7 3
- KIRREL3 12
- KLF7 3
- KLHL20 3
- KLHL7 2
- KMT2A 3
- KMT2B 8
- KMT2C 4
- KMT2D 3
- KMT2E 4
- KMT5B 2
- KNL1 4
- KPTN 3
- KRAS 3
- L1CAM 3
- L2HGDH 3
- LAMA1 4
- LAMA2 3
- LAMB1 3
- LAMC3 5
- LAMP2 3
- LARGE1 5
- LARP7 3
- LARS 3
- LETM1 2
- LGI3 1
- LHX2 3
- LIAS 5
- LIG4 3
- LINC01578 3
- LINGO4 3
- LINS1 4
- LIPT1 3
- LMBRD2 3
- LMNB1 2
- LONP1 6
- LRP2 4
- LRPPRC 3
- LRRC7 3
- LSS 5
- LYRM7 3
- LZTR1 1
- MAB21L1 2
- MAB21L2 4
- MACF1 2
- MADD 4
- MAF 3
- MAGEL2 6
- MAN1B1 3
- MAN2B1 3
- MAN2C1 3
- MANBA 3
- MAOA 3
- MAP1B 5
- MAP2K1 3
- MAP2K2 3
- MAPK1 3
- MAPK8IP3 3
- MAPKAPK5 4
- MAPRE2 5
- MARK2 3
- MASP1 4
- MAST1 2
- MAST3 2
- MAST4 2
- MAT1A 3
- MBD5 2
- MBOAT7 2
- MBTPS2 5
- MCCC1 3
- MCCC2 3
- MCM3AP 3
- MCOLN1 3
- MCPH1 3
- MDH2 4
- MECP2 4
- MED11 2
- MED12 5
- MED13 4
- MED13L 2
- MED17 3
- MED23 5
- MED25 5
- MED27 3
- MEF2C 4
- MEIS2 3
- METTL23 2
- METTL5 5
- MFF 1
- MFSD2A 5
- MFSD8 4
- MGAT2 3
- MICU1 4
- MID1 3
- MINPP1 3
- MKKS 3
- MKS1 4
- MLC1 3
- MLYCD 3
- MMAA 3
- MMAB 3
- MMACHC 3
- MMADHC 3
- MN1 4
- MOCS1 3
- MOCS2 3
- MOGS 4
- MORC2 3
- MPDU1 3
- MPLKIP 3
- MPP5 4
- MRPS22 2
- MRPS34 1
- MSL2 5
- MSL3 7
- MSMO1 1
- MTFMT 2
- MTHFR 4
- MTHFS 3
- MTO1 4
- MTOR 6
- MTR 3
- MTRR 3
- MTSS1L 2
- MUT 4
- MVK 3
- MYCN 5
- MYH10 3
- MYO5A 3
- MYT1L 5
- NAA10 3
- NAA15 2
- NACC1 2
- NAGA 3
- NAGLU 3
- NALCN 3
- NANS 2
- NAPB 2
- NARS 3
- NBEA 2
- NCDN 3
- NCKAP1 3
- NDE1 3
- NDP 3
- NDST1 4
- NDUFA1 3
- NDUFA2 3
- NDUFS1 3
- NDUFS4 3
- NDUFS7 3
- NDUFS8 3
- NDUFV1 3
- NEDD4L 6
- NEMF 3
- NEU1 3
- NEUROD2 2
- NEUROG1 3
- NEXMIF 6
- NF1 3
- NFASC 1
- NFIA 4
- NFIX 3
- NFU1 4
- NGLY1 5
- NHS 3
- NIPBL 3
- NKAP 5
- NKX2-1 3
- NLGN3 2
- NONO 3
- NOVA2 2
- NPC1 4
- NPC2 4
- NPHP1 3
- NR2F1 4
- NR2F2 7
- NR4A2 4
- NRAS 3
- NRCAM 4
- NRROS 2
- NRXN1 3
- NSD1 3
- NSD2 2
- NSDHL 3
- NSRP1 2
- NSUN2 2
- NT5C2 3
- NTNG2 2
- NTRK1 5
- NTRK2 2
- NUBPL 4
- NUDT2 5
- NUP214 3
- NUS1 3
- OCLN 5
- OCRL 4
- ODC1 2
- OFD1 3
- OGDHL 3
- OGT 3
- OPA3 3
- OPHN1 3
- OSGEP 1
- OTC 4
- OTUD5 3
- OTUD6B 2
- OTUD7A 6
- OTX2 4
- OXR1 3
- P4HTM 2
- PABPC1 4
- PACS1 3
- PACS2 3
- PAFAH1B1 3
- PAH 3
- PAK1 3
- PAK3 4
- PAN2 5
- PARN 3
- PAX8 3
- PBX1 3
- PC 3
- PCCA 4
- PCCB 4
- PCDH12 4
- PCDH19 5
- PCDHGC4 1
- PCGF2 5
- PCNT 3
- PCYT2 2
- PDE4D 4
- PDGFRB 6
- PDHA1 3
- PDHB 3
- PDHX 4
- PDSS1 2
- PDSS2 3
- PDZD8 4
- PEPD 3
- PET100 7
- PEX1 3
- PEX10 3
- PEX11B 4
- PEX12 3
- PEX13 3
- PEX14 4
- PEX16 3
- PEX19 3
- PEX2 3
- PEX26 3
- PEX3 3
- PEX5 3
- PEX6 5
- PEX7 3
- PGAP1 3
- PGAP2 3
- PGAP3 3
- PGK1 3
- PGM2L1 3
- PGM3 3
- PHACTR1 5
- PHF21A 8
- PHF6 7
- PHF8 3
- PHGDH 3
- PHIP 3
- PI4K2A 3
- PI4KA 2
- PIBF1 3
- PIDD1 3
- PIGA 4
- PIGB 2
- PIGC 4
- PIGG 2
- PIGH 4
- PIGK 3
- PIGL 3
- PIGN 3
- PIGO 3
- PIGP 4
- PIGQ 5
- PIGS 2
- PIGT 5
- PIGU 2
- PIGV 3
- PIGW 3
- PIK3CA 5
- PIK3R2 3
- PIP5K1C 2
- PITRM1 2
- PLA2G6 3
- PLAA 4
- PLCB1 3
- PLEKHG2 4
- PLK1 4
- PLK4 4
- PLP1 3
- PLPBP 2
- PLXNA1 3
- PLXNB2 2
- PMM2 3
- PMPCB 2
- PNKP 3
- PNPLA6 3
- PNPT1 7
- POGZ 3
- POLA1 5
- POLG 4
- POLR1C 5
- POLR2A 2
- POLR3A 3
- POLR3B 5
- POLRMT 3
- POMGNT1 3
- POMGNT2 4
- POMT1 3
- POMT2 3
- PORCN 4
- POU3F2 3
- POU3F3 2
- PPFIBP1 3
- PPIL1 3
- PPM1D 3
- PPP1CB 4
- PPP1R12A 3
- PPP1R15B 2
- PPP1R21 5
- PPP1R3F 3
- PPP2CA 3
- PPP2R1A 3
- PPP2R5D 3
- PPP3CA 2
- PPT1 3
- PQBP1 3
- PRDM13 3
- PRICKLE2 5
- PRKAR1B 5
- PRMT7 4
- PRPF8 3
- PRPS1 4
- PRR12 2
- PRSS12 5
- PRUNE1 4
- PSAP 3
- PSMC3 3
- PSMC5 4
- PSMD12 4
- PSPH 4
- PTCH1 3
- PTCHD1 3
- PTDSS1 5
- PTEN 3
- PTF1A 4
- PTPN11 3
- PTPN23 4
- PTPN4 3
- PTRHD1 5
- PTS 4
- PUF60 6
- PUM1 4
- PURA 3
- PUS1 4
- PUS3 2
- PUS7 2
- PYCR1 5
- PYCR2 5
- QARS 6
- QDPR 4
- QRICH1 3
- RAB11A 5
- RAB11B 1
- RAB18 3
- RAB23 4
- RAB39B 4
- RAB3GAP1 3
- RAB3GAP2 3
- RAB5C 3
- RAC1 1
- RAC3 2
- RAD21 3
- RAF1 3
- RAI1 3
- RALA 2
- RALGAPA1 3
- RAP1B 4
- RARB 6
- RARS 4
- RARS2 3
- RBBP5 3
- RBBP8 2
- RBL2 3
- RBM10 2
- RBSN 3
- RELN 6
- RERE 3
- RFT1 3
- RFX3 3
- RFX4 3
- RFX7 3
- RHOBTB2 2
- RIT1 3
- RLIM 4
- RMND1 2
- RNASEH2A 3
- RNASEH2B 3
- RNASEH2C 3
- RNASET2 3
- RNF113A 6
- RNF125 2
- RNF13 5
- RNU4-2 5
- RNU7-1 3
- ROBO1 3
- ROGDI 3
- RORA 2
- RPGRIP1L 3
- RPIA 2
- RPL10 6
- RPS6KA3 5
- RRM2B 2
- RSRC1 2
- RTEL1 4
- RTN4IP1 3
- RTTN 6
- SAMD9 1
- SAMHD1 4
- SARS 3
- SARS2 2
- SATB1 5
- SATB2 3
- SBF1 2
- SC5D 3
- SCAF4 5
- SCAMP5 5
- SCAPER 3
- SCN1A 3
- SCN2A 3
- SCN3A 2
- SCN8A 6
- SCO2 3
- SCYL1 2
- SDCCAG8 3
- SDHA 3
- SDHAF1 4
- SEMA6B 2
- SEPHS1 2
- SEPSECS 1
- SERAC1 4
- SET 4
- SETBP1 5
- SETD1A 5
- SETD1B 5
- SETD2 2
- SETD5 4
- SFXN4 2
- SGPL1 1
- SGSH 3
- SHANK1 8
- SHANK2 2
- SHANK3 3
- SHH 3
- SHMT2 3
- SHOC2 3
- SHQ1 2
- SIAH1 2
- SIK1 4
- SIL1 3
- SIN3A 3
- SIN3B 4
- SIX3 3
- SKI 3
- SLC12A2 4
- SLC12A5 5
- SLC12A6 5
- SLC13A5 4
- SLC16A2 3
- SLC17A5 3
- SLC19A3 4
- SLC1A1 2
- SLC1A2 3
- SLC1A4 1
- SLC25A1 1
- SLC25A12 4
- SLC25A15 3
- SLC25A22 3
- SLC2A1 7
- SLC30A9 2
- SLC32A1 3
- SLC33A1 6
- SLC35A1 7
- SLC35A2 5
- SLC35C1 3
- SLC38A3 3
- SLC39A14 1
- SLC39A8 2
- SLC46A1 4
- SLC4A10 3
- SLC4A4 3
- SLC5A6 4
- SLC6A1 3
- SLC6A17 3
- SLC6A19 2
- SLC6A3 4
- SLC6A8 3
- SLC6A9 3
- SLC9A6 4
- SLX4 4
- SMAD4 6
- SMARCA2 6
- SMARCA4 6
- SMARCA5 4
- SMARCB1 4
- SMARCC2 4
- SMARCD1 6
- SMARCE1 4
- SMC1A 3
- SMC3 6
- SMG8 3
- SMOC1 3
- SMPD1 3
- SMPD4 2
- SMS 2
- SNAP25 2
- SNAP29 2
- SNF8 1
- SNIP1 4
- SNORD118 6
- SNRPB 4
- SNX14 6
- SNX27 4
- SON 4
- SOS1 3
- SOS2 1
- SOX10 3
- SOX11 5
- SOX2 4
- SOX4 3
- SOX5 2
- SOX6 2
- SPART 4
- SPATA5 4
- SPATA5L1 4
- SPECC1L 2
- SPEN 4
- SPG11 3
- SPOP 3
- SPR 5
- SPRED1 3
- SPRED2 3
- SPTAN1 4
- SPTBN1 1
- SPTBN2 4
- SPTBN4 3
- SRCAP 5
- SRD5A3 3
- SRPK3 3
- SRRM2 6
- SRSF1 2
- SSR4 2
- ST3GAL3 3
- ST3GAL5 6
- STAG1 6
- STAG2 2
- STAMBP 4
- STIL 3
- STRA6 3
- STRADA 3
- STT3A 7
- STX1A 1
- STX1B 4
- STXBP1 5
- SUCLG1 4
- SUFU 2
- SUMF1 4
- SUOX 3
- SUPT16H 3
- SURF1 3
- SUZ12 3
- SVBP 8
- SYN1 2
- SYNCRIP 6
- SYNGAP1 3
- SYNJ1 4
- SYP 3
- SYT1 6
- SZT2 5
- TAF1 5
- TAF2 6
- TAF4 5
- TAF6 2
- TAF8 2
- TANC2 7
- TANGO2 3
- TAOK1 3
- TASP1 3
- TAT 3
- TAZ 5
- TBC1D20 2
- TBC1D23 2
- TBC1D24 5
- TBC1D2B 4
- TBC1D7 5
- TBCD 4
- TBCE 3
- TBCK 3
- TBL1XR1 2
- TBR1 3
- TCEAL1 2
- TCF20 6
- TCF4 3
- TCF7L2 4
- TCN2 4
- TCTN2 3
- TCTN3 5
- TDP2 2
- TECPR2 6
- TEFM 3
- TELO2 2
- TENM3 3
- TET3 3
- TFE3 2
- TGIF1 4
- TH 4
- THOC2 4
- THOC6 2
- THRA 6
- THUMPD1 8
- TIAM1 3
- TIMM50 2
- TLK2 2
- TMCO1 3
- TMEM106B 3
- TMEM147 2
- TMEM165 3
- TMEM216 3
- TMEM222 2
- TMEM237 3
- TMEM240 4
- TMEM5 5
- TMEM63B 2
- TMEM63C 2
- TMEM67 3
- TMEM70 4
- TMEM94 2
- TMTC3 2
- TMX2 3
- TNPO2 6
- TNRC6B 3
- TOE1 2
- TOR1A 5
- TP73 3
- TPP1 3
- TPP2 2
- TRA2B 3
- TRAF7 3
- TRAIP 1
- TRAPPC12 2
- TRAPPC4 5
- TRAPPC6B 4
- TRAPPC9 3
- TREX1 3
- TRIM8 2
- TRIO 3
- TRIP12 4
- TRIT1 2
- TRMT1 5
- TRMT10A 4
- TRMT5 3
- TRNT1 3
- TRPM3 5
- TRRAP 2
- TSC1 3
- TSC2 3
- TSEN2 2
- TSEN34 3
- TSEN54 3
- TSFM 1
- TSHB 4
- TSPAN7 5
- TSPOAP1 2
- TTC19 4
- TTC37 4
- TTC5 4
- TTC8 3
- TTI1 2
- TTI2 3
- TUBA1A 3
- TUBB 4
- TUBB2A 5
- TUBB2B 3
- TUBB3 3
- TUBB4A 4
- TUBG1 1
- TUBGCP6 3
- TUSC3 3
- TWIST1 4
- U2AF2 5
- UBA5 3
- UBAP2L 3
- UBE2A 3
- UBE3A 4
- UBE3B 3
- UBE4A 3
- UBR1 3
- UBR7 6
- UBTF 4
- UFM1 3
- UFSP2 2
- UGDH 3
- UGP2 5
- UMPS 4
- UNC80 3
- UPF3B 4
- UROC1 5
- USP7 5
- USP9X 3
- VAMP2 2
- VARS 3
- VARS2 3
- VCP 3
- VLDLR 3
- VPS11 4
- VPS13B 3
- VPS41 3
- VPS4A 3
- VPS53 2
- VRK1 2
- WAC 3
- WARS2 2
- WASF1 2
- WDFY3 6
- WDPCP 4
- WDR26 2
- WDR37 2
- WDR4 4
- WDR45 3
- WDR45B 3
- WDR5 1
- WDR62 3
- WDR73 4
- WDR81 7
- WDR83OS 4
- WIPI2 4
- WNK3 4
- WNT1 6
- WWOX 4
- XRCC4 4
- XYLT1 5
- YIF1B 3
- YIPF5 3
- YWHAG 1
- YY1 3
- ZBTB18 6
- ZBTB20 4
- ZBTB24 2
- ZBTB47 2
- ZBTB7A 4
- ZC4H2 5
- ZDHHC9 3
- ZEB2 3
- ZFHX3 2
- ZFHX4 7
- ZFX 6
- ZFYVE26 3
- ZIC1 5
- ZIC2 3
- ZMIZ1 2
- ZMYM2 5
- ZMYM3 5
- ZMYND11 2
- ZMYND8 4
- ZNF142 2
- ZNF292 7
- ZNF335 4
- ZNF462 2
- ZNF526 5
- ZNF699 3
- ZNF711 3
- ZNFX1 2
- ZSWIM6 4
- ABI2 2
- ACADSB 2
- ACADVL 2
- ACAT1 3
- ACP5 2
- ACTA2 2
- ACVR1 5
- ADA 3
- ADAMTS10 2
- ADCY5 8
- ADPRHL2 2
- AGAP1 2
- AGMO 2
- AGPAT3 2
- AGPS 7
- AGXT 2
- AIMP2 3
- AIPL1 2
- AIRE 2
- AK2 2
- AKR1D1 2
- AKT1 4
- ALAD 2
- ALDOA 3
- ALG14 3
- ALPL 2
- ALX3 3
- ALX4 7
- ANKS1B 2
- ANO5 2
- ANTXR1 2
- AP1B1 3
- AP2S1 2
- ARHGAP35 2
- ARHGEF40 1
- ARL14EP 4
- ARMC4 3
- ASCC3 5
- ASTN1 3
- ATG4D 2
- ATOH1 1
- ATP11A 3
- ATP6AP1 2
- ATXN2L 2
- B3GALT6 2
- B4GALT1 5
- BAIAP2 1
- BCORL1 7
- BHLHE22 1
- BORCS5 1
- BRSK1 1
- BSN 1
- BSND 3
- C12orf66 1
- C16orf62 1
- C8orf37 4
- CACNA2D2 4
- CACNB4 5
- CAMK2G 5
- CAPZA2 1
- CARS2 3
- CASR 3
- CCDC186 1
- CCNK 1
- CCT3 1
- CCT6A 1
- CCT8 1
- CD96 5
- CDC42BPB 3
- CDK9 3
- CDKN1C 3
- CELF4 1
- CELSR3 1
- CEP295 2
- CEP63 4
- CHD1 2
- CHL1 3
- CHRM1 2
- CHST14 3
- CLCN2 4
- CNPY3 2
- COG3 2
- COPB1 2
- COQ9 3
- COX7B 3
- CPSF3 2
- CRBN 4
- CRMP1 1
- CRNKL1 2
- CSTF2 5
- CTC1 7
- CTNND2 1
- CYP27A1 5
- CYP2U1 7
- DALRD3 2
- DAP3 1
- DCC 8
- DDOST 6
- DDX39B 2
- DDX53 3
- DENND5A 3
- DHX32 2
- DLAT 3
- DLG1 3
- DLG2 3
- DOCK8 7
- DONSON 2
- DPH2 2
- DPM3 6
- DPYSL2 1
- DROSHA 3
- DYNC1I2 2
- EEF1B2 3
- EEF1D 2
- EEFSEC 1
- EFNB1 4
- EIPR1 1
- ELFN1 1
- EMG1 1
- EPB41L1 4
- EPB41L3 2
- EPHA7 2
- ERGIC3 2
- EXOC2 2
- EXOC7 2
- EXOSC8 2
- FAAH2 7
- FAM120C 3
- FANCA 3
- FANCC 3
- FANCD2 3
- FANCE 3
- FANCF 2
- FANCG 2
- FANCI 2
- FARSB 2
- FBXO22 2
- FDFT1 3
- FEM1C 2
- FGF13 2
- FGF14 5
- FGFR2 6
- FICD 2
- FLVCR1 7
- FOXP4 4
- FOXR1 2
- FRAS1 5
- FREM2 3
- FRRS1L 3
- FRY 4
- FRYL 1
- FTO 3
- GABBR1 1
- GATA6 4
- GBA 4
- GBA2 9
- GIGYF1 2
- GJB1 8
- GJB3 2
- GLI3 6
- GLS 2
- GMNN 1
- GNE 2
- GON4L 4
- GOT2 4
- GPATCH11 1
- GPSM2 7
- GSS 5
- GSX2 2
- GTF2I 1
- GTF3C3 4
- HADHB 2
- HARS 2
- HAX1 6
- HEATR3 2
- HEATR5B 2
- HINT1 3
- HIRA 2
- HIST1H4I 2
- HIST1H4J 3
- HNF1B 2
- HNRNPC 1
- HNRNPD 3
- HS2ST1 2
- HSPG2 4
- HTT 4
- IFT27 2
- IFT43 2
- IL1RAPL2 2
- INPP4A 7
- IPO8 2
- IQSEC1 4
- ISCA2 2
- ITFG2 2
- ITGA7 3
- ITGAV 1
- JAKMIP1 2
- JKAMP 1
- JMJD1C 2
- KATNB1 2
- KCNA1 5
- KCNC3 6
- KCND3 8
- KCNK4 3
- KDM2A 1
- KIAA0556 1
- KIF26A 1
- KIF5B 2
- KLHL15 3
- LAMB2 2
- LARS2 2
- LAS1L 5
- LDB1 1
- LINGO1 2
- LIPT2 1
- LMAN2L 2
- LMBRD1 3
- LMNA 5
- LMNB2 2
- LNPK 2
- LRP5 4
- LRRC32 4
- LRRC45 1
- LRRC8C 1
- LSM1 1
- LSM7 3
- LZTFL1 2
- MAG 1
- MAL 2
- MAP4K4 3
- MAPK10 6
- MED12L 2
- MED16 2
- MIR17HG 6
- MKL2 2
- MMGT1 3
- MPV17 5
- MRPL49 1
- NAA20 2
- NAGS 3
- NAV3 1
- NBAS 2
- NBN 3
- NCAPD2 2
- NCAPG2 2
- NDUFAF1 2
- NDUFAF2 5
- NDUFAF5 2
- NECAP1 2
- NFIB 3
- NHLRC2 1
- NHP2 3
- NOTCH3 1
- NPHP3 4
- NT5C3A 2
- NUP107 3
- NUP188 3
- NUP62 4
- NUP85 1
- NYX 2
- OPA1 1
- PAM16 2
- PARP6 2
- PAX1 2
- PCBP2 2
- PDCD6IP 2
- PDE10A 2
- PDE1B 2
- PDE6D 2
- PDP1 2
- PHF12 2
- PHF14 3
- PIK3C2A 3
- PISD 2
- PJA1 5
- PLA2G16 1
- PLAT 1
- PLXNA2 2
- PMPCA 2
- PNPLA8 1
- PNPO 2
- POMK 2
- POU1F1 3
- PPFIA3 1
- PPOX 5
- PPP2R2B 4
- PPP2R5C 1
- PRKACB 3
- PRKD1 5
- PRMT9 5
- PRODH 5
- PRRT2 7
- PSMB8 3
- PTBP1 2
- PTH1R 2
- PTHLH 2
- PTPA 2
- PTPMT1 1
- PTRH2 3
- RAB14 2
- RAB3A 2
- RAD51 5
- RAP1GDS1 4
- RAX 5
- RBPJ 2
- RHEB 4
- RIC1 2
- RMRP 3
- RNF220 2
- RNPC3 1
- RNU2-2P 2
- RNU4ATAC 3
- RNU5B-1 2
- RPS23 1
- RPS6KC1 1
- RREB1 2
- RSF1 1
- RSPRY1 2
- RUNX1T1 1
- RUSC2 2
- RYR2 2
- SACS 5
- SALL1 5
- SCN1B 8
- SEC31A 2
- SEL1L 2
- SF1 2
- SGSM3 2
- SHROOM4 4
- SLC12A9 1
- SLC25A26 2
- SLC25A38 2
- SLC26A2 2
- SLC27A4 2
- SLC2A2 2
- SLC35A3 2
- SLC35B2 2
- SLC35D1 2
- SLC39A13 2
- SLC45A1 3
- SLC4A1 2
- SLC4A11 2
- SLC5A5 3
- SLC5A7 2
- SLC9A7 2
- SLITRK2 2
- SMAD3 4
- SMARCA1 4
- SMARCD2 3
- SMG9 2
- SOD1 1
- SOX3 8
- SOX9 6
- SPAST 5
- SPOUT1 1
- SRGAP3 3
- SRP54 1
- SUCLA2 2
- SUPV3L1 1
- TAB2 6
- TAF13 1
- TAF1C 1
- TAOK2 2
- TARS2 1
- TBX1 6
- TCP1 1
- TDP1 10
- TERT 3
- TFG 4
- TGFB1 4
- THRB 4
- TKFC 2
- TKT 1
- TM2D3 1
- TMEM231 3
- TMLHE 4
- TNIK 2
- TNR 2
- TOMM70 1
- TRAK1 2
- TRAPPC10 4
- TRAPPC11 4
- TRAPPC2L 1
- TRPC5 2
- TSEN15 3
- TUBGCP2 2
- TUBGCP4 4
- TWIST2 5
- UBE3C 1
- UBR5 1
- UFC1 3
- UGGT1 2
- UNC13A 4
- UPB1 5
- UPF1 4
- USP27X 3
- VIPAS39 4
- VPS33A 1
- VPS33B 2
- VPS50 2
- VPS51 2
- WARS 1
- WASHC4 3
- WASHC5 5
- WBP4 1
- WDR11 6
- WDR47 1
- WSB2 1
- XPA 5
- YARS 4
- ZBTB11 2
- ZC3H14 5
- ZFP57 3
- ZNF148 5
- ZNF407 2
- ZNF668 2
- ZNF865 1
- ZNRF3 1
- A2ML1 2
- ABCB11 4
- ABCB7 5
- ABCC6 5
- ABCC8 0
- ABCG5 0
- ABHD12 3
- ACAN 4
- ACE2 3
- ACIN1 3
- ACOT9 3
- ACOX2 2
- ACSF3 3
- ADGRG4 3
- ADGRG6 4
- ADGRV1 3
- ADRA2B 3
- AFG3L2 7
- AFP 0
- AGK 3
- AGL 4
- AGPAT2 3
- AGT 0
- AGTR2 3
- AK1 3
- AKAP17A 4
- AKAP4 3
- AKAP6 1
- AKR1C2 3
- ALDH1A3 5
- ALDOB 4
- ALG2 4
- ALS2 5
- ALX1 4
- ANKH 5
- ANO10 4
- ANO3 3
- AP5Z1 3
- APTX 5
- AQP7 0
- AR 5
- ARHGAP31 1
- ARHGAP36 3
- ARHGAP6 3
- ARHGEF2 1
- ARHGEF4 3
- ARHGEF6 7
- ARIH1 3
- ARSF 3
- ASB12 3
- ASCL1 3
- ASMT 3
- ASMTL 3
- ASPH 0
- ATAD2B 1
- ATCAY 3
- ATL1 4
- ATP2A2 5
- ATP2B3 3
- ATP2C2 1
- ATP6V1B1 4
- ATP7B 3
- ATP8B1 5
- ATXN1 4
- ATXN10 4
- ATXN2 4
- ATXN3 4
- ATXN3L 3
- ATXN7 4
- AVP 0
- AVPR2 3
- AWAT2 3
- BDP1 3
- BEAN1 3
- BFSP2 4
- BGN 4
- BHLHA9 4
- BICD2 4
- BIN1 3
- BMP15 3
- BMPER 5
- BMPR1B 4
- BPIFB6 3
- BRCA1 5
- BRCA2 3
- BRIP1 3
- BTK 3
- C19orf12 5
- C1QA 1
- C1QC 1
- C20orf24 2
- C2orf71 4
- C3orf58 1
- C4orf26 4
- C9orf72 4
- CA5A 3
- CACNA1F 3
- CACNA1H 3
- CACNA1S 3
- CACNA2D3 0
- CACNG2 3
- CANT1 0
- CAP1 3
- CAPN10 3
- CCDC103 4
- CCDC114 5
- CCDC115 4
- CCDC174 2
- CCDC39 5
- CCDC40 4
- CCDC65 5
- CCDC78 3
- CCDC8 4
- CCNA2 3
- CCNB3 3
- CCNO 4
- CCT5 6
- CCT7 1
- CD99 3
- CDC40 2
- CDC45 3
- CDH15 7
- CDH23 4
- CDH3 4
- CDK5R1 0
- CDT1 5
- CFAP47 3
- CFP 3
- CHM 4
- CHMP3 1
- CHRDL1 4
- CHRNA2 4
- CHRNA4 5
- CHRNB2 5
- CHRNG 4
- CHST3 4
- CHSY1 4
- CHUK 4
- CIB2 4
- CISD2 6
- CLCN5 3
- CLCN7 4
- CLCNKA 2
- CLCNKB 3
- CLDN19 4
- CLIC2 4
- CLPP 0
- CMC4 3
- CMIP 2
- CNKSR1 3
- CNTN3 1
- CNTN4 0
- COA3 0
- COA5 3
- COL10A1 4
- COL11A1 4
- COL11A2 3
- COL18A1 4
- COL1A1 4
- COL1A2 0
- COL25A1 0
- COL2A1 4
- COL4A3 4
- COL4A4 4
- COL4A6 3
- COL6A1 4
- COL6A3 3
- COL9A1 4
- COL9A2 4
- COL9A3 4
- COLEC10 2
- COMP 4
- COQ2 4
- COQ5 4
- COX14 3
- COX6B1 6
- CP 3
- CPA6 4
- CPD 2
- CPXCR1 3
- CRB1 4
- CRLF2 4
- CRX 4
- CRYAA 4
- CRYBA1 4
- CRYBA4 3
- CRYBB1 4
- CRYBB2 4
- CRYBB3 4
- CRYGC 3
- CRYGD 4
- CSF1R 3
- CSF2RA 4
- CTGF 1
- CTNS 4
- CTPS2 3
- CTSF 6
- CTSK 4
- CTTNBP2 3
- CUL7 5
- CXorf58 3
- CYFIP1 1
- CYP1B1 4
- CYP7B1 6
- DAB1 0
- DACT1 1
- DCHS2 4
- DCTN1 3
- DDB2 4
- DDHD1 5
- DDR2 3
- DDX58 2
- DECR1 4
- DGKH 3
- DHODH 3
- DIAPH2 3
- DIP2B 6
- DLGAP2 0
- DLL3 4
- DLL4 4
- DMP1 4
- DMPK 6
- DNA2 4
- DNAAF3 4
- DNAAF4 4
- DNAH14 2
- DNAJC3 0
- DNM2 3
- DNMT1 3
- DOCK11 3
- DPF1 3
- DPF3 3
- DPP6 4
- DRD2 3
- DSCAM 0
- DSCR3 2
- DSPP 4
- DST 3
- DSTYK 4
- DVL1 4
- DVL3 3
- DYNC2H1 4
- ECEL1 4
- EDA 4
- EDNRA 4
- EDNRB 6
- EFHC1 3
- EGR2 3
- EIF2A 2
- EIF2AK1 2
- EIF4G1 3
- ELK1 4
- ELN 5
- ELOVL5 3
- EN2 0
- ENOX2 3
- ENPP1 4
- EOGT 4
- EOMES 3
- EPM2A 4
- EPPK1 3
- ERCC4 5
- ERF 4
- ERMARD 7
- ESX1 3
- EVC 5
- EVC2 4
- EXT1 3
- EYA1 5
- F5 0
- FA2H 7
- FAH 6
- FAM111A 6
- FAM111B 3
- FAM160B1 3
- FAM161A 4
- FAM20A 4
- FAM47B 3
- FAM58A 6
- FANCB 4
- FASN 3
- FBLN5 0
- FBN1 7
- FBN2 3
- FBP1 4
- FBXO25 3
- FBXO7 3
- FBXO8 1
- FBXW4 3
- FDXR 0
- FGD4 3
- FGF10 4
- FGF3 4
- FGFR1 8
- FGFR3 5
- FHL1 4
- FKBP14 4
- FKBP6 1
- FKBPL 3
- FLAD1 3
- FLNA 6
- FLNB 4
- FLT4 4
- FOXC1 4
- FOXC2 4
- FOXE1 4
- FOXE3 4
- FOXF1 4
- FOXN1 4
- FOXP3 5
- FREM1 5
- FRMD7 5
- FTL 7
- FUT2 1
- FXN 5
- FYCO1 4
- FZD3 0
- FZD6 4
- G6PC3 0
- GAA 4
- GAB3 3
- GABRG3 0
- GABRQ 4
- GALK1 4
- GALNS 6
- GAP43 1
- GAS8 4
- GATA2 4
- GATA4 4
- GBE1 0
- GCK 0
- GDAP1 3
- GDF5 4
- GDF6 4
- GHR 4
- GIGYF2 0
- GJA1 5
- GJA3 4
- GJA8 4
- GJB2 4
- GLE1 4
- GLMN 4
- GLRA1 1
- GLUD1 3
- GNAI3 4
- GNAL 3
- GORAB 3
- GOSR2 3
- GPHN 4
- GPR179 4
- GPRASP1 3
- GRB14 3
- GRHL3 4
- GRIP1 0
- GRM6 4
- GRN 3
- GSPT2 5
- GTPBP8 3
- GUCY2C 5
- GYS2 0
- HADH 7
- HARS2 0
- HAUS7 3
- HDAC6 3
- HIST1H4B 3
- HIST1H4D 2
- HIST1H4F 2
- HIST3H3 3
- HMGB3 1
- HMGCS2 4
- HMGXB4 1
- HNF4A 4
- HOXA13 4
- HOXC13 4
- HOXD10 0
- HOXD13 4
- HPGD 4
- HPS1 4
- HPSE2 4
- HR 4
- HS6ST2 3
- HSD3B7 4
- HSF4 4
- HYAL1 4
- HYDIN 4
- HYLS1 7
- IARS2 4
- IFITM5 4
- IFNAR2 3
- IFT122 4
- IFT140 3
- IFT80 4
- IGBP1 3
- IGF2 4
- IGHMBP2 3
- IGSF1 5
- IHH 4
- IL11RA 4
- IL3RA 4
- ILF2 0
- IMPAD1 4
- INF2 3
- INPPL1 4
- INSR 0
- INTS6 2
- INTS6L 4
- INTS8 1
- IQSEC3 2
- IRAK1 3
- IRF6 4
- ITCH 2
- ITGA3 3
- ITGA4 3
- ITGB6 1
- ITIH6 3
- JAG1 4
- JAGN1 4
- JAK3 4
- JPH3 2
- KANK1 3
- KATNAL2 0
- KBTBD13 4
- KCND1 3
- KCNE1 3
- KCNJ2 1
- KCNK12 3
- KCNQ1 4
- KCTD1 4
- KIF1B 2
- KIF1C 3
- KIF21A 0
- KIF22 4
- KIF26B 3
- KIT 4
- KLF1 4
- KLF8 3
- KLHL21 3
- KLHL34 3
- KLHL4 3
- KLHL40 4
- KRIT1 5
- LBR 5
- LDB3 4
- LEMD3 4
- LFNG 4
- LGI1 5
- LGI4 4
- LHFPL3 3
- LHX3 5
- LHX4 4
- LIMK1 3
- LITAF 3
- LMX1B 4
- LOXHD1 3
- LRAT 4
- LRP1 3
- LRP4 4
- LRRC6 5
- LRRK1 3
- LRRK2 3
- LTBP2 4
- LTBP3 4
- LYST 4
- MACC1 1
- MAFB 3
- MAGEA11 3
- MAGEB1 3
- MAGEB10 3
- MAGEB2 3
- MAGEC1 3
- MAGEC3 3
- MAGED1 3
- MAGEE2 3
- MAGI2 3
- MAGIX 3
- MAGT1 4
- MAOB 3
- MAP3K1 4
- MAP3K15 3
- MAP3K7 1
- MAP7D3 3
- MAPT 3
- MARS2 4
- MATN3 4
- MBNL3 3
- MC2R 4
- MCEE 5
- MCM9 0
- MECR 3
- MEGF10 3
- MEGF8 3
- MESP2 4
- MET 0
- METAP1 2
- MFRP 4
- MGAT5B 3
- MGP 6
- MIB1 4
- MITF 3
- MLH1 3
- MMP13 4
- MMP21 3
- MNX1 6
- MORC4 3
- MPDZ 3
- MPI 7
- MPZ 3
- MRAP 0
- MRE11 5
- MSX1 4
- MSX2 4
- MT-ATP6 3
- MTF1 4
- MTM1 4
- MTMR1 3
- MTMR14 1
- MTMR2 2
- MTMR8 3
- MT-ND1 2
- MT-ND4 4
- MTPAP 3
- MT-TK 4
- MTTP 1
- MT-TP 5
- MXRA5 3
- MYBPC1 3
- MYH3 3
- MYH6 4
- MYH8 4
- MYH9 4
- MYO1D 3
- MYO1G 3
- MYO1H 2
- MYO5B 4
- MYO7A 3
- MYT1 2
- NAA60 1
- NADK2 1
- NCAPH 1
- NDN 1
- NDRG1 2
- NDUFA10 1
- NDUFA11 3
- NDUFA12 3
- NDUFA9 1
- NDUFAF3 1
- NDUFS2 3
- NDUFS3 3
- NEB 1
- NECAB2 3
- NECTIN1 3
- NEFL 2
- NEK1 4
- NGF 1
- NHEJ1 4
- NHLRC1 2
- NIPA1 2
- NKX2-5 3
- NKX3-2 4
- NLGN4X 3
- NLRP3 4
- NMNAT1 4
- NODAL 4
- NOG 4
- NOP56 3
- NOTCH2 4
- NPHP4 4
- NPHS1 3
- NPHS2 3
- NPR2 4
- NPR3 0
- NR1I3 3
- NR5A1 4
- NRK 3
- NRXN2 5
- NRXN3 3
- NSF 4
- NTM 3
- NTNG1 0
- NXF4 4
- NXF5 4
- OBSL1 5
- ODF2L 3
- OR5M1 3
- ORC1 4
- ORC4 6
- ORC6 7
- OTOGL 4
- OTULIN 4
- OXCT1 4
- P2RY4 3
- P2RY8 4
- P3H1 3
- P4HB 4
- PABPC5 3
- PALB2 3
- PANK2 4
- PAPSS2 4
- PARK7 2
- PARP1 3
- PASD1 3
- PAX2 3
- PAX3 4
- PAX6 6
- PAX7 2
- PAX9 3
- PBRM1 3
- PCBD1 5
- PCDH10 3
- PCLO 1
- PCYT1A 3
- PDCD10 5
- PDE6G 4
- PDGFB 2
- PDYN 2
- PECR 3
- PGM1 4
- PGRMC1 4
- PHC1 3
- PHF10 3
- PHKA1 3
- PHKA2 0
- PHKG2 0
- PHOX2B 5
- PIEZO2 3
- PIGF 2
- PIGY 1
- PIK3C3 3
- PIK3R1 4
- PIN4 3
- PINK1 2
- PITX2 4
- PITX3 4
- PKD1L1 4
- PKHD1 4
- PLCE1 3
- PLCXD1 4
- PLEC 2
- PLEKHG1 1
- PLOD1 3
- PLOD2 4
- PLOD3 1
- PLXNB3 3
- PMP22 2
- PMS2 4
- PNKD 2
- PNP 3
- POC1A 4
- POC1B 4
- POGLUT1 0
- POLD1 4
- POLR1D 4
- PPA2 4
- PPP1R1B 0
- PRDM12 4
- PRDX4 3
- PREPL 3
- PRICKLE1 2
- PRICKLE3 3
- PRKAR1A 4
- PRKCG 2
- PRKN 2
- PRKRA 2
- PROP1 4
- PROX2 3
- PRRG1 3
- PRRG3 3
- PRSS56 4
- PRX 2
- PSAT1 5
- PSEN1 2
- PSMA7 3
- PSMD10 3
- PTPN21 3
- PUDP 4
- PYGL 3
- QKI 3
- RAB27A 3
- RAB40AL 3
- RABL6 3
- RAD50 5
- RAD51C 4
- RALGDS 3
- RANBP17 0
- RANBP2 5
- RAPGEF1 3
- RAPSN 5
- RASA1 5
- RBFOX1 0
- RBM28 3
- RBM8A 3
- RECQL4 3
- REEP1 2
- REEP2 2
- RENBP 3
- RET 3
- RETREG1 4
- RFX6 3
- RGN 3
- RGS7 3
- RIMS1 0
- RING1 1
- RIPK4 3
- RNF135 3
- RNF168 3
- RNF216 2
- RNU5A-1 1
- ROBO3 5
- ROR2 6
- RORB 1
- RPE65 4
- RPGR 3
- RPGRIP1 4
- RPS19 4
- RRAS 4
- RSPH1 4
- RSPH3 4
- RSPO4 4
- RTL9 3
- RTN2 2
- RUBCN 5
- RUNX2 4
- RYR1 3
- RYR3 3
- SALL4 4
- SAMD9L 2
- SBDS 4
- SBF2 2
- SCARB2 2
- SCARF2 4
- SCN11A 4
- SCN4A 5
- SCN9A 2
- SCO1 7
- SCRIB 3
- SEC23B 4
- SELENOI 0
- SEMA3E 1
- SETDB2 3
- SETX 2
- SF3B4 3
- SGCA 0
- SGCE 4
- SH3PXD2B 4
- SH3TC2 2
- SHOX 5
- SHROOM2 3
- SIGMAR1 2
- SIX1 4
- SIX5 4
- SKIV2L 4
- SLC20A2 2
- SLC22A5 7
- SLC25A13 0
- SLC25A19 4
- SLC25A20 6
- SLC25A24 0
- SLC25A53 3
- SLC25A6 4
- SLC26A9 3
- SLC2A10 3
- SLC31A1 3
- SLC35F1 2
- SLC52A3 5
- SLC5A2 0
- SLC6A4 0
- SLC6A5 5
- SLC7A7 0
- SLC9A9 3
- SMARCAL1 4
- SMARCC1 3
- SMARCD3 3
- SMCHD1 4
- SMO 3
- SNCA 3
- SNTG1 3
- SNX3 3
- SOBP 3
- SOX17 4
- SPAG1 4
- SPEG 4
- SPG21 3
- SPG7 4
- SPRTN 0
- SPRY3 4
- SPTLC1 0
- SPTLC2 4
- SREBF2 3
- SRPX2 5
- SRY 4
- STAB2 3
- STAR 4
- STARD8 3
- STAT1 5
- STAT5B 0
- STS 5
- STT3B 3
- STUB1 4
- STX11 0
- STX3 1
- SYNE1 5
- SYNE2 1
- SYT14 3
- SYTL4 3
- SYTL5 3
- TACO1 4
- TAF7L 3
- TARDBP 3
- TBC1D8B 3
- TBP 4
- TBX15 4
- TBX20 4
- TBX22 4
- TBX3 4
- TBX4 4
- TBX5 4
- TBXAS1 4
- TCEAL3 3
- TCF12 4
- TCOF1 3
- TCP10L2 3
- TCTN1 4
- TECR 3
- TEK 4
- TENM1 3
- TEPSIN 4
- TFAP2A 3
- TFAP2B 3
- TFB2M 1
- TGDS 3
- TGFB2 4
- TGFB3 4
- TGFBR1 4
- TGFBR2 4
- TGM6 3
- THAP1 5
- TIMM8A 5
- TINF2 5
- TK2 5
- TKTL1 3
- TLR8 3
- TM4SF20 3
- TMEM126B 4
- TMEM132E 3
- TMEM135 3
- TMEM260 0
- TMPRSS6 4
- TMPRSS9 1
- TNKS2 3
- TP63 4
- TPH2 0
- TPK1 0
- TPR 1
- TRAPPC2 4
- TRAPPC6A 1
- TREX2 3
- TRHR 0
- TRIM32 7
- TRIM37 6
- TRIP11 4
- TRIP13 1
- TRMT1L 1
- TRPM1 4
- TRPS1 5
- TRPV4 4
- TSC22D3 3
- TSHR 4
- TSPAN8 1
- TTBK2 3
- TTC7A 3
- TTN 1
- TTPA 3
- TTR 0
- TUBA8 6
- TUBAL3 3
- TUFM 4
- TXNL4A 4
- TYR 4
- TYRP1 4
- UBE2U 2
- UBR4 0
- UGT1A1 4
- UQCRB 4
- UQCRQ 4
- UROS 4
- USB1 4
- USP18 2
- UTP14A 3
- UVSSA 4
- VAMP1 8
- VAMP7 4
- VDR 3
- VIP 3
- VPS35 3
- VSX2 4
- WDR13 3
- WDR19 4
- WDR34 5
- WDR35 4
- WDR60 6
- WFS1 3
- WNT10B 4
- WNT3 4
- WNT4 3
- WNT5A 5
- WNT7A 4
- WRAP53 4
- WRN 0
- WT1 4
- WWC3 3
- XIAP 3
- XIST 0
- XK 3
- XKRX 3
- XPC 4
- XPNPEP3 4
- YAP1 3
- YBX3 1
- YWHAE 1
- YWHAZ 1
- ZBTB16 3
- ZBTB40 3
- ZCCHC12 3
- ZCCHC8 3
- ZDHHC15 5
- ZIC3 4
- ZMPSTE24 4
- ZMYM6 3
- ZMYND12 3
- ZNF41 3
- ZNF425 3
- ZNF592 3
- ZNF599 3
- ZNF674 3
- ZNF713 3
- ZNF81 3
- ZMYND15 1
STRs in panel
Prev
Next
Regions in panel
Prev
Next
-
5p15 terminal (Cri du chat syndrome) region Loss
ISCA-37390-Loss 1 -
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Gain
ISCA-37392-Gain 1 -
7q11.23 recurrent (Williams-Beuren syndrome) region (includes ELN) Loss
ISCA-37392-Loss 1 -
22q11.21 recurrent (Cat eye syndrome) region (includes CECR2) Gain
ISCA-37393-Gain 1 -
2q37.3 terminal region (includes HDAC4) Loss
ISCA-37394-Loss 2 -
15q24 recurrent region (A-D) (includes SIN3A) Loss
ISCA-37396-Loss 2 -
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Gain
ISCA-37397-Gain 1 -
22q11.2 recurrent region (distal region, LCR22-D to LCR22-E or -F) Loss
ISCA-37397-Loss 1 -
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Gain
ISCA-37400-Gain 1 -
16p11.2 recurrent region (includes TBX6) (proximal region) (BP4-BP5) Loss
ISCA-37400-Loss 1 -
11p13 (WAGR syndrome) region Loss
ISCA-37401-Loss 1 -
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Gain
ISCA-37404-Gain 2 -
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss 1 -
2q13 recurrent region (includes NPHP1) Loss
ISCA-37405-Loss 1 -
16p13.3 region (includes CREBBP) Loss
ISCA-37406-Loss 1 -
2p15p16.1 region (includes BCL11A) Loss
ISCA-37408-Loss 2 -
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
ISCA-37411-Loss 1 -
16p13.11 recurrent region (includes MYH11) Gain
ISCA-37415-Gain 2 -
16p13.11 recurrent region (includes MYH11) Loss
ISCA-37415-Loss 1 -
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Gain
ISCA-37418-Gain 1 -
17p11.2 recurrent (SMS/PLS) region (includes RAI1) Loss
ISCA-37418-Loss 2 -
17q21.3 recurrent region (includes KANSL1) Loss
ISCA-37420-Loss 1 -
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Gain
ISCA-37421-Gain 1 -
1q21.1 recurrent region (BP3-BP4, distal) (includes GJA5) Loss
ISCA-37421-Loss 1 -
8p23.1 recurrent region (includes GATA4) Gain
ISCA-37423-Gain 1 -
8p23.1 recurrent region (includes GATA4) Loss
ISCA-37423-Loss 1 -
10q22.3q23.2 recurrent region (LCR-3/4-flanked) (includes BMPR1A) Loss
ISCA-37424-Loss 1 -
5q35 recurrent (Sotos syndrome) region (includes NSD1) Gain
ISCA-37425-Gain 1 -
5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss
ISCA-37425-Loss 1 -
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss 1 -
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Gain
ISCA-37430-Gain 1 -
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
ISCA-37430-Loss 1 -
17q11.2 recurrent region (includes NF1) Gain
ISCA-37431-Gain 1 -
17q11.2 recurrent region (includes NF1) Loss
ISCA-37431-Loss 1 -
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
ISCA-37432-Gain 1 -
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss
ISCA-37432-Loss 1 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Gain
ISCA-37433-Gain 1 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 1 -
1p36 terminal region (includes GABRD) Loss
ISCA-37434-Loss 1 -
Xq28 recurrent region (includes GDI1) Gain
ISCA-37439-Gain 1 -
2p21 region (includes PREPL and SLC3A1) Loss
ISCA-37440-Loss 1 -
11p11.2 (Potocki-Shaffer syndrome) region (includes ALX4, EXT2) Loss
ISCA-37441-Loss 1 -
3q29 recurrent region (includes DLG1) Loss
ISCA-37443-Loss 1 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Gain
ISCA-37446-Gain 1 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss 1 -
DLK1-MEG3 Intergenic Region Loss
ISCA-37447-Loss 1 -
Xp11.23 region (includes MAOA and MAOB) Loss
ISCA-37468-Loss 1 -
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Gain 1 -
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss 1 -
16p11.2 recurrent region (includes SH2B1) (distal region) (BP2-BP3) Loss
ISCA-37486-Loss 1 -
1q43q44 terminal region (includes AKT3) Loss
ISCA-37493-Loss 1 -
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Gain
ISCA-37494-Gain 2 -
Xq28 recurrent region (int22h1/int22h2-flanked) (includes RAB39B) Loss
ISCA-37494-Loss 2 -
2q11.2 recurrent region (includes ARID5A, TMEM127) Loss
ISCA-37495-Loss 1 -
15q25.2 recurrent region (LCR B-C, proximal) Loss
ISCA-37500-Loss 1 -
17q23.1q23.2 recurrent region (includes TBX2, TBX4) Loss
ISCA-37501-Loss 2 -
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
ISCA-46290-Gain 1 -
22q11.2 recurrent region (distal type III, D-G/H) (includes SMARCB1) Loss
ISCA-46292-Loss 1 -
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
ISCA-46295-Loss 1 -
16p12.2 recurrent region (distal)(includes OTOA) Loss
ISCA-46297-Loss 1 -
Xp11.22 region (includes HUWE1) Gain
ISCA-46299-Gain 2 -
Xq28 region (includes MECP2) Gain
ISCA-46304-Gain 1 -
3q24 Region (includes ZIC1) Loss
ISCA-46553-Loss 1 -
7p22.1 region (includes ACTB) Loss
ISCA-46742-Loss 1 -
Xq25 region (includes STAG2) Gain
ISCA-46743-Gain 1 -
Xq25 region (includes STAG2) Loss
ISCA-46743-Loss 1 -
15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss
ISCA-37448-Loss 1 -
11q13.2q13.4 recurrent region (includes SHANK2, FGFs) Loss
ISCA-37498-Loss 1 -
15q24 recurrent region (LCR A-LCR C) Loss
ISCA-46296-Loss 1 -
15q24 recurrent region (LCR C-LCR D) (includes SIN3A) Loss
ISCA-46300-Loss 1
Intellectual disability
Gene: SLC12A5 Green List (high evidence)
SLC12A5 (solute carrier family 12 member 5)
EnsemblGeneIds (GRCh38): ENSG00000124140
EnsemblGeneIds (GRCh37): ENSG00000124140
OMIM: 606726, Gene2Phenotype
SLC12A5 is in 3 panels
EnsemblGeneIds (GRCh38): ENSG00000124140
EnsemblGeneIds (GRCh37): ENSG00000124140
OMIM: 606726, Gene2Phenotype
SLC12A5 is in 3 panels
5 reviews
Arina Puzriakova (Genomics England Curator)
The mode of inheritance of this gene has been updated to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 5:50 p.m. | Last Modified: 30 Jan 2023, 5:50 p.m.
Panel Version: 4.53
Created: 30 Jan 2023, 5:50 p.m.
Last Modified: 30 Jan 2023, 5:50 p.m.
Panel version: 4.53
Last Modified: 30 Jan 2023, 5:50 p.m.
Panel version: 4.53
Sarah Leigh (Genomics England Curator)
Although monoallelic SLC12A5 variants have been identied in {Epilepsy, idiopathic generalized, susceptibility to, 14}, OMIM:616685 (PMID: 24928908; 24668262), intetellectual disability has not be reported in this condition. However, significant neurological regression leading to severe developmental delay has been observed in cases of Developmental and epileptic encephalopathy 34, OMIM:616645 in cases with biallelic SLC12A5 variants (PMID 26333769).Created: 24 Mar 2022, 3:25 p.m. | Last Modified: 24 Mar 2022, 3:25 p.m.
Panel Version: 3.1523
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Developmental and epileptic encephalopathy 34, OMIM:616645
Publications
Created: 24 Mar 2022, 3:25 p.m.
Last Modified: 24 Mar 2022, 3:25 p.m.
Panel version: 3.1523
Last Modified: 24 Mar 2022, 3:25 p.m.
Panel version: 3.1523
Caroline Wright (Sanger)
Red List (low evidence)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
FEBRILE SEIZURES
Publications
Created: 5 Nov 2017, 2:42 a.m.
Panel version: 0
Panel version: 0
Lu Raymond (university of cambridge )
Red List (low evidence)
Created: 23 Feb 2016, 11:11 a.m.
Panel version: 0.306
Panel version: 0.306
Richard Scott (Genomics England Curator)
Green List (high evidence)
Comment on list classification: Biallelic mutations are causative of an epileptic encephalopathy phenotypeCreated: 8 Feb 2016, 12:58 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Created: 8 Feb 2016, 12:56 a.m.
Panel version: 0.238
Panel version: 0.238
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Developmental and epileptic encephalopathy 34, OMIM
- 616645
- OMIM
- 606726
- Clinvar variants
- Variants in SLC12A5
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
31 Jan 2023, Gel status: 3
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q1_22_MOI was removed from gene: SLC12A5.
30 Jan 2023, Gel status: 3
Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to SLC12A5. Mode of inheritance for gene SLC12A5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
24 Mar 2022, Gel status: 3
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC12A5 were set to 24668262; 26333769
24 Mar 2022, Gel status: 3
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q1_22_MOI tag was added to gene: SLC12A5.
24 Mar 2022, Gel status: 3
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC12A5 were changed from FEBRILE SEIZURES to Developmental and epileptic encephalopathy 34, OMIM; 616645
24 Mar 2022, Gel status: 3
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC12A5 were set to 24668262
12 Mar 2018, Gel status: 3
Panel promoted to version 2.0
Ellen McDonagh (Genomics England Curator)12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.
8 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
8 Feb 2016, Gel status: 4
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
13 Nov 2015, Gel status: 1
gel status update
GEL ()The Gel status was updated for this whole panel
13 Nov 2015, Gel status: 2
gel status update
GEL ()The Gel status was updated for this whole panel
13 Nov 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)SLC12A5 was created by ellenmcdonagh
13 Nov 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SLC12A5 was added to Intellectual disabilitypanel. Sources: Expert Review Red