- AARS 4
- AASS 2
- ABAT 6
- ACOX1 5
- ACTL6B 3
- ADAR 4
- ADARB1 2
- ADGRG1 4
- ADPRHL2 6
- ADSL 6
- AFF3 5
- AGO1 2
- AIMP1 4
- AKT3 4
- ALDH5A1 4
- ALDH7A1 9
- ALG1 4
- ALG11 3
- ALG13 7
- ALG14 2
- ALG3 4
- ALG6 4
- ALG8 5
- ALG9 4
- ALKBH8 7
- ALPL 6
- AMPD2 4
- AMT 4
- ANK2 1
- ANKRD11 5
- ANO4 2
- AP1G1 2
- AP2M1 4
- AP3B2 4
- APC2 4
- ARF1 3
- ARF3 4
- ARFGEF1 4
- ARFGEF2 4
- ARG1 3
- ARHGEF9 8
- ARID1B 5
- ARV1 5
- ARX 7
- ASAH1 3
- ASH1L 3
- ASL 2
- ASNS 3
- ASPA 4
- ASXL3 3
- ATN1 4
- ATP1A1 4
- ATP1A2 9
- ATP1A3 7
- ATP5O 6
- ATP6V0A1 5
- ATP6V0A2 3
- ATP6V0C 5
- ATP6V1A 4
- ATP7A 4
- ATRX 8
- BAP1 2
- BCKDHA 4
- BCKDHB 4
- BCS1L 4
- BOLA3 4
- BRAF 4
- BRAT1 3
- BRSK1 3
- BSCL2 3
- BTD 8
- C12orf57 4
- C12orf66 3
- C2orf69 3
- CACNA1A 10
- CACNA1B 4
- CACNA1C 2
- CACNA1D 4
- CACNA1E 5
- CACNA1G 3
- CACNA1I 4
- CACNA2D2 7
- CAD 3
- CAMSAP1 1
- CAPRIN1 4
- CARS2 2
- CASK 8
- CC2D2A 4
- CCDC88A 7
- CDK19 3
- CDK5 2
- CDKL5 7
- CELF2 4
- CEP85L 4
- CERS1 6
- CHD2 8
- CHD4 3
- CHD5 3
- CHKA 3
- CHRNA2 10
- CHRNA4 9
- CHRNB2 10
- CIC 3
- CLCN3 2
- CLCN4 4
- CLDN5 3
- CLN3 8
- CLN8 7
- CLPB 4
- CLTC 3
- CNKSR2 4
- CNNM2 3
- CNOT9 2
- CNPY3 5
- CNTN2 5
- CNTNAP2 8
- COG7 4
- COL18A1 4
- COL4A1 8
- COL4A2 8
- COL4A3BP 2
- COQ2 4
- COQ4 4
- COQ9 4
- CPLX1 3
- CREBBP 4
- CRELD1 6
- CRNKL1 3
- CSNK2B 4
- CSTB 9
- CTNNA2 4
- CTSD 7
- CTSF 4
- CUL3 3
- CUL4B 2
- CUX1 1
- CUX2 6
- CYFIP2 4
- D2HGDH 3
- DBT 3
- DCX 4
- DDC 2
- DDX3X 3
- DEAF1 7
- DEGS1 3
- DENND5A 3
- DEPDC5 10
- DHDDS 4
- DHPS 4
- DHX30 3
- DIAPH1 2
- DLL1 4
- DMXL2 5
- DNAJC6 6
- DNM1 8
- DNM1L 3
- DOCK7 7
- DOLK 6
- DPAGT1 3
- DPH5 3
- DPM1 3
- DPYD 3
- DROSHA 3
- DTYMK 3
- DYNC1H1 3
- DYRK1A 7
- EARS2 3
- EEF1A2 9
- EEFSEC 1
- EFTUD2 3
- EHMT1 7
- EIF2B1 4
- EIF2B2 3
- EIF2B3 4
- EIF2B4 3
- EIF2B5 3
- EIF2S3 3
- EIF3F 4
- EIF4A2 2
- ELFN1 2
- EMC10 3
- EML1 2
- ENTPD1 3
- EPB41L3 3
- EPG5 3
- EPM2A 7
- ESAM 3
- ETHE1 3
- EXOSC3 3
- EXT2 4
- FAR1 6
- FARS2 3
- FASTKD2 5
- FBXL4 5
- FBXO11 4
- FBXO28 3
- FGF12 4
- FGF13 2
- FGFR3 6
- FKTN 4
- FLNA 6
- FLVCR1 2
- FOLR1 4
- FOXG1 7
- FOXRED1 5
- FRMD5 1
- FRRS1L 4
- FUCA1 4
- FUK 7
- FUT8 5
- FZR1 2
- GABBR2 8
- GABRA1 8
- GABRA2 3
- GABRA5 3
- GABRB1 5
- GABRB2 4
- GABRB3 7
- GABRD 10
- GABRG2 10
- GAD1 3
- GALC 4
- GALNT2 2
- GAMT 8
- GBA 5
- GCSH 6
- GFAP 4
- GLB1 4
- GLDC 4
- GLRA2 3
- GLS 3
- GLUD1 4
- GLUL 5
- GM2A 4
- GNAO1 7
- GNAQ 5
- GNB1 5
- GNB5 4
- GOSR2 8
- GOT2 5
- GPAA1 3
- GPHN 9
- GRIA2 6
- GRIA4 4
- GRIK2 6
- GRIN1 8
- GRIN2A 7
- GRIN2B 7
- GRIN2D 5
- GRM7 3
- GRN 2
- GTF3C3 5
- GTPBP2 5
- H3F3A 7
- H3F3B 8
- HACE1 3
- HAX1 4
- HCFC1 4
- HCN1 7
- HCN2 7
- HECTD4 3
- HECW2 3
- HEPACAM 5
- HERC2 3
- HEXA 4
- HEXB 4
- HID1 3
- HMGCL 3
- HNRNPH2 3
- HNRNPR 6
- HNRNPU 7
- HPDL 3
- HRAS 4
- HSD17B10 2
- HSD17B4 4
- HTRA2 3
- IER3IP1 3
- IFIH1 3
- IKBKG 5
- INPP4A 7
- IQSEC2 7
- IRF2BPL 5
- ITPA 3
- KARS 5
- KAT5 7
- KAT8 6
- KCNA1 8
- KCNA2 8
- KCNA3 2
- KCNB1 7
- KCNC1 8
- KCNC2 4
- KCND2 7
- KCND3 3
- KCNH1 1
- KCNH5 7
- KCNJ10 7
- KCNJ11 4
- KCNK4 4
- KCNMA1 13
- KCNQ2 7
- KCNQ3 7
- KCNQ5 5
- KCNT1 8
- KCNT2 6
- KCTD3 4
- KCTD7 7
- KDM6B 3
- KIAA1109 5
- KIF1A 4
- KIF2A 3
- KIF5C 4
- KLHL20 3
- KMT2E 5
- KPTN 5
- KRAS 4
- LAMC3 1
- LARS 3
- LETM1 3
- LGI1 11
- LIAS 4
- LMBRD2 4
- LNPK 6
- LSS 5
- MACF1 4
- MADD 3
- MAF 3
- MAP2K1 4
- MAP2K2 4
- MARK2 3
- MAST3 2
- MAST4 3
- MBD5 7
- MBOAT7 3
- MDH2 3
- MECP2 8
- MED11 2
- MED12 7
- MED27 1
- MEF2C 7
- MFF 3
- MFSD8 8
- MINPP1 2
- MLC1 3
- MMACHC 3
- MMADHC 3
- MOCS1 8
- MOCS2 8
- MOGS 3
- MPDU1 3
- MTHFR 4
- MTHFS 3
- MTOR 4
- MT-TK 2
- NACC1 2
- NAGA 4
- NAPB 2
- NARS 3
- NARS2 4
- NBEA 3
- NDE1 4
- NDUFA1 4
- NDUFA10 4
- NDUFAF2 4
- NDUFAF5 4
- NDUFS4 4
- NDUFS8 4
- NDUFV1 5
- NEDD4L 5
- NEUROD2 2
- NEXMIF 8
- NGLY1 4
- NHLRC1 8
- NOTCH3 1
- NPRL2 9
- NPRL3 5
- NR4A2 3
- NRROS 1
- NRXN1 9
- NSD1 4
- NSDHL 4
- NSRP1 2
- NTRK2 3
- NUP214 3
- NUS1 3
- OCLN 4
- OGDHL 3
- OPHN1 4
- OTUD6B 3
- OTUD7A 5
- OXR1 3
- P4HTM 4
- PABPC1 4
- PACS1 5
- PACS2 5
- PAFAH1B1 4
- PAH 4
- PAK1 4
- PARS2 3
- PCCA 4
- PCCB 4
- PCDH12 6
- PCDH19 8
- PCDHGC4 2
- PCYT2 5
- PDHA1 4
- PDHX 4
- PET100 3
- PGM2L1 2
- PHACTR1 4
- PHGDH 4
- PI4K2A 3
- PIDD1 2
- PIGA 8
- PIGB 4
- PIGC 4
- PIGG 4
- PIGH 5
- PIGK 3
- PIGM 5
- PIGN 3
- PIGO 4
- PIGP 5
- PIGQ 12
- PIGT 3
- PIGU 2
- PIGW 5
- PIK3R2 4
- PIP5K1C 2
- PLA2G6 3
- PLAA 4
- PLCB1 7
- PLK1 4
- PLPBP 4
- PLXNA1 2
- PMM2 4
- PMPCB 4
- PNKP 7
- PNPLA8 2
- PNPO 8
- PNPT1 3
- POLG 8
- POMGNT1 4
- POMT1 4
- PPFIBP1 3
- PPIL1 2
- PPOX 2
- PPP1R3F 3
- PPP2CA 4
- PPP2R2B 2
- PPP2R5C 2
- PPP3CA 4
- PPT1 9
- PRMT7 3
- PRPF8 3
- PRRT2 8
- PSAP 4
- PTCD3 3
- PTEN 5
- PTPN23 4
- PTS 4
- PUM1 4
- PURA 7
- QARS 8
- RAB11B 5
- RAB18 4
- RAB5C 3
- RAC3 3
- RALA 5
- RALGAPA1 4
- RARS 3
- RARS2 4
- RELN 4
- RFT1 4
- RHEB 3
- RHOBTB2 4
- RMND1 4
- RNASEH2A 3
- RNASEH2B 4
- RNASEH2C 3
- RNASET2 4
- RNF113A 3
- RNF13 7
- RNU2-2P 2
- RNU4-2 5
- RNU5B-1 2
- ROGDI 4
- RORA 5
- RORB 4
- RTN4IP1 3
- RTTN 4
- SAMHD1 3
- SARS 3
- SATB1 1
- SATB2 3
- SCAF4 2
- SCAMP5 5
- SCARB2 7
- SCN1A 8
- SCN1B 9
- SCN2A 8
- SCN3A 3
- SCN8A 12
- SEMA6B 6
- SEPSECS 4
- SERPINI1 3
- SETBP1 5
- SETD1A 3
- SETD1B 5
- SETD5 10
- SGSH 1
- SHQ1 3
- SIK1 7
- SLC12A5 8
- SLC13A3 3
- SLC13A5 7
- SLC16A2 8
- SLC1A2 5
- SLC1A4 4
- SLC25A1 3
- SLC25A12 6
- SLC25A22 7
- SLC2A1 9
- SLC32A1 5
- SLC35A2 4
- SLC38A3 3
- SLC39A8 3
- SLC4A10 3
- SLC6A1 7
- SLC6A8 8
- SLC9A6 7
- SMARCA2 3
- SMARCC2 3
- SMC1A 5
- SMS 8
- SNAP25 4
- SNIP1 7
- SNORD118 4
- SPATA5 5
- SPATA5L1 4
- SPOUT1 2
- SPTAN1 7
- SPTBN1 2
- ST3GAL3 9
- ST3GAL5 4
- STAG1 4
- STAMBP 4
- STRADA 3
- STX1B 7
- STXBP1 10
- SUCLA2 3
- SUOX 3
- SURF1 3
- SYN1 3
- SYNGAP1 6
- SYNJ1 2
- SZT2 6
- TAF8 2
- TANGO2 4
- TARS2 2
- TBC1D24 8
- TBC1D2B 3
- TBCD 3
- TBCK 3
- TBL1XR1 7
- TCF4 7
- TDP2 3
- TFE3 6
- TIAM1 3
- TIMM50 6
- TMEM167A 2
- TMEM222 3
- TMEM63B 3
- TMX2 5
- TNPO2 1
- TPP1 8
- TRA2B 3
- TRAK1 3
- TRAPPC12 5
- TRAPPC4 5
- TREX1 3
- TRIM8 4
- TRIT1 1
- TRPM3 7
- TRPM6 3
- TRPM7 2
- TSC1 5
- TSC2 4
- TSEN54 3
- TUBA1A 3
- TUBB2A 5
- TUBB2B 3
- TUBB3 3
- TUBB4A 4
- TUBG1 4
- TUBGCP2 2
- U2AF2 5
- UBA5 4
- UBAP2L 3
- UBE2A 7
- UBE3A 7
- UBR5 1
- UBR7 2
- UFM1 4
- UFSP2 3
- UGDH 3
- UGGT1 2
- UGP2 5
- UNC13A 1
- UNC80 4
- USP18 2
- VAMP2 4
- VARS 5
- VPS11 4
- WARS2 4
- WASF1 3
- WDR37 2
- WDR45 7
- WDR45B 4
- WDR47 1
- WDR73 4
- WNK3 4
- WWOX 6
- YIPF5 2
- YWHAG 4
- ZBTB18 4
- ZBTB47 3
- ZDHHC9 4
- ZEB2 6
- ZNF142 5
- ZNF335 2
- ZNFX1 2
- ABCA2 3
- ABI2 1
- ADAM22 4
- ADAT3 4
- ADD1 2
- ADGRL1 1
- AIMP2 6
- AJAP1 2
- AMACR 1
- ASTN1 3
- ATP2B1 4
- ATP5A1 5
- ATP6AP2 3
- BAIAP2 2
- BLOC1S1 2
- BORCS5 1
- BORCS8 2
- BSN 2
- CACNA1H 8
- CACNA2D1 3
- CAMK2D 1
- CCDC88C 3
- CCT8 1
- CDC42BPB 3
- CELF4 1
- CELSR3 1
- CLN6 6
- COG3 2
- COG4 4
- COG6 4
- COG8 4
- COLGALT1 2
- COQ6 3
- COX10 4
- COX11 3
- COX15 4
- CPSF3 2
- CSNK1G1 8
- CTU2 1
- CYP27A1 4
- DALRD3 2
- DENND5B 1
- DHCR24 3
- DHCR7 3
- DHRSX 6
- DHX16 2
- DNAJC5 1
- DPM2 5
- EFHC1 7
- EIF2AK2 1
- EMX2 6
- EXOC7 1
- FAM50A 2
- FDFT1 3
- FH 4
- FKRP 4
- FSD1L 1
- GABRA3 1
- GCH1 4
- GFM1 3
- GLI3 4
- GLRA1 8
- GLYCTK 3
- GSS 3
- GTPBP3 4
- GUF1 2
- HCCS 4
- HEATR5B 2
- HLCS 8
- HOXA1 3
- HPRT1 4
- HSPD1 4
- ISPD 5
- JAKMIP1 2
- JKAMP 1
- KATNB1 3
- KCNB2 1
- KDM2A 1
- KIF1BP 8
- LARGE1 4
- LIPT1 1
- LIPT2 4
- LMAN2L 1
- LMNB1 2
- LYST 3
- MANBA 4
- MAST1 4
- MED17 5
- MTR 4
- NCDN 1
- NDP 4
- NDUFA2 5
- NDUFAF3 4
- NDUFAF4 3
- NDUFS1 4
- NDUFS2 4
- NDUFS6 4
- NDUFS7 4
- NECAP1 9
- NRDC 1
- NSF 4
- NUBPL 4
- OTX2 3
- PAK2 1
- PARP6 2
- PDSS2 4
- PEX1 4
- PEX10 3
- PEX12 3
- PEX13 3
- PEX19 3
- PEX2 3
- PEX3 3
- PEX5 3
- PEX6 3
- PEX7 4
- PIGS 2
- POLG2 3
- POMT2 4
- PPP2R1A 1
- PRICKLE1 10
- PRMT9 1
- PRODH 3
- PSAT1 4
- PSPH 4
- PTF1A 3
- PTPMT1 1
- QDPR 4
- RAB11A 1
- RAB3GAP1 4
- RAB3GAP2 4
- RANBP2 6
- RNF2 1
- RNU4ATAC 4
- RPIA 4
- RPS6KC1 1
- RRM2B 3
- RUSC2 4
- RYR2 4
- RYR3 9
- SAMD12 2
- SCO1 3
- SCO2 4
- SDHA 4
- SIX3 4
- SLC31A1 1
- SLC35A1 4
- SLC35A3 4
- SLC45A1 4
- SNF8 1
- SNX27 5
- SPR 5
- SPTBN4 2
- STARD7 1
- SUCLG1 3
- SYNCRIP 2
- TANC2 2
- TBC1D20 3
- TCP1 1
- TEFM 2
- TELO2 4
- TET3 3
- TMEM106B 2
- TMEM70 3
- TNK2 3
- TRAF7 4
- TRAPPC6B 4
- TRIP13 3
- TRRAP 5
- TSEN15 4
- TSEN2 3
- TSEN34 3
- TSFM 3
- TUBA8 3
- TUBB 3
- TXNRD1 3
- UFC1 4
- USP7 4
- VLDLR 4
- VPS50 2
- WDR62 4
- WSB2 1
- XK 2
- YIF1B 2
- ZMIZ1 4
- ZMYM2 4
- AARS2 4
- ADGRV1 4
- ADRA2B 3
- AGMO 2
- AKT1 5
- ALG12 4
- ALG2 4
- BCORL1 2
- BET1 2
- CACNB4 11
- CAMK2G 3
- CAMLG 1
- CASR 2
- CBL 9
- CCDC186 2
- CCND2 4
- CHMP3 1
- CHRM1 2
- CLCN2 4
- CLCN6 4
- CLN5 6
- CPA6 10
- CRH 6
- CSNK2A1 3
- DMBX1 3
- EIF2A 1
- FIG4 4
- FTL 3
- FUT2 1
- GAL 3
- GATAD2B 8
- GATM 8
- GLRB 7
- GNB2 1
- IDH2 5
- INO80 3
- KCNH8 1
- KMT5B 3
- LMNB2 3
- MAGI2 12
- MAPK10 9
- MATN4 3
- MCM3AP 1
- MT-CO3 1
- MT-TL1 6
- MYO1H 2
- NDUFA11 3
- NID1 3
- NRAS 4
- PCDHB4 3
- PCLO 5
- PIK3CA 4
- PRDM8 2
- PRICKLE2 6
- PSMB8 3
- PTCH1 2
- RALGAPB 2
- RNU12 1
- RNU5A-1 1
- RTEL1 1
- RUBCN 4
- SCN2B 6
- SCN9A 11
- SEC24D 3
- SEC31A 1
- SHH 4
- SLC25A19 2
- SLC5A6 4
- SLC6A19 3
- SLC6A5 8
- SLC7A6OS 2
- SRPX2 8
- STIL 2
- TGIF1 2
- TUBA3E 3
- TXN2 1
- UNC13B 2
- ZIC2 2
- PROSC 4
-
15q13.3 recurrent region (BP4-BP5) (includes CHRNA7) Loss
ISCA-37411-Loss 2 -
16p13.11 recurrent region (includes MYH11) Loss
ISCA-37415-Loss 2 -
8p23.1 recurrent region (includes GATA4) Gain
ISCA-37423-Gain 2 -
4p16.3 terminal (Wolf-Hirshhorn syndrome) region Loss
ISCA-37429-Loss 3 -
17p13.3 (Miller-Dieker syndrome) region (includes YWHAE and PAFAH1B1) Loss
ISCA-37430-Loss 2 -
17q12 recurrent (RCAD syndrome) region (includes HNF1B) Gain
ISCA-37432-Gain 2 -
1p36 terminal region (includes GABRD) Loss
ISCA-37434-Loss 2 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss 2 -
15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss
ISCA-37448-Loss 1 -
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Gain 2 -
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss 2 -
1q43q44 terminal region (includes AKT3) Loss
ISCA-37493-Loss 2 -
Xp11.22p11.23 recurrent region (includes SHROOM4) Gain
ISCA-46290-Gain 2 -
15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A) Loss
ISCA-46295-Loss 2 -
16p12.2 recurrent region (distal)(includes OTOA) Loss
ISCA-46297-Loss 1 -
Xq28 region (includes MECP2) Gain
ISCA-46304-Gain 1 -
Xq25 region (includes STAG2) Gain
ISCA-46743-Gain 1 -
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss 2 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 2
Early onset or syndromic epilepsy
Gene: GAL Red List (low evidence)EnsemblGeneIds (GRCh38): ENSG00000069482
EnsemblGeneIds (GRCh37): ENSG00000069482
OMIM: 137035, Gene2Phenotype
GAL is in 2 panels
3 reviews
Rebecca Foulger (Genomics England curator)
I don't know
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Last Modified: 6 Aug 2019, 8:38 p.m.
Panel version: 1.189
Tracy Lester (Genetics laboratory, Oxford UK)
I don't know
? AD familial temporal lobe epilepsy. Reported in a pair of monozygotic twin brothers, however no variants found in this gene when screening an additional 582 epilepsy patients.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Epilepsy, familial temporal lobe, 8, 616461
Publications
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188
Sarah Leigh (Genomics England Curator)
Red List (low evidence)
Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least one variant identified in monozygotic twins.Created: 23 Jul 2018, 2:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
?Epilepsy, familial temporal lobe, 8 616461
Publications
Panel version: 0.288
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Red
- Literature
- Phenotypes
-
- ?Epilepsy, familial temporal lobe, 8 616461
- OMIM
- 137035
- Clinvar variants
- Variants in GAL
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to GAL.
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to GAL.
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Sarah Leigh: Comment on list classification
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: gal has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: gal has been classified as Red List (Low Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)GAL was added to Genetic Epilepsy Syndromes panel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)GAL was created by Sarah Leigh