Genes in panel
- 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
- BSCL2 3
- BTD 8
- C12orf57 4
- 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
- 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 5
- CSNK2B 4
- CSTB 9
- CTNNA2 4
- CTSD 7
- 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
- EFTUD2 3
- EHMT1 7
- EIF2B1 4
- EIF2B2 3
- EIF2B3 4
- EIF2B4 3
- EIF2B5 3
- EIF2S3 3
- EIF3F 4
- EIF4A2 2
- EMC10 3
- EML1 2
- ENTPD1 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
- 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
- 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
- GTPBP2 5
- H3F3A 7
- H3F3B 8
- HACE1 3
- HAX1 4
- HCFC1 4
- HCN1 7
- HCN2 6
- 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
- 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
- KCNH1 1
- KCNH5 7
- KCNJ10 7
- KCNJ11 4
- KCNK4 4
- KCNMA1 13
- KCNQ2 7
- KCNQ3 7
- KCNQ5 5
- KCNT1 8
- KCNT2 5
- KCTD3 4
- KCTD7 7
- KDM6B 3
- KIAA1109 5
- KIF1A 4
- KIF2A 3
- KIF5C 4
- KLHL20 3
- KMT2E 5
- KPTN 5
- KRAS 4
- LARS 3
- LETM1 3
- LGI1 10
- LIAS 4
- LMBRD2 4
- LNPK 6
- MACF1 4
- MADD 3
- MAF 3
- MAP2K1 4
- MAP2K2 4
- 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
- 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
- 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
- PNPO 8
- PNPT1 3
- POLG 8
- POMGNT1 4
- POMT1 4
- PPFIBP1 3
- PPIL1 2
- PPP1R3F 3
- PPP2CA 4
- 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
- RNU4-2 5
- 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
- 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
- TBC1D24 8
- TBC1D2B 3
- TBCD 3
- TBCK 3
- TBL1XR1 7
- TCF4 7
- TDP2 3
- TFE3 6
- TIAM1 3
- TIMM50 6
- 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
- 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
- UBR7 2
- UFM1 4
- UFSP2 3
- UGDH 3
- UGP2 5
- UNC80 4
- USP18 2
- VAMP2 4
- VARS 5
- VPS11 4
- WARS2 4
- WASF1 3
- WDR37 2
- WDR45 7
- WDR45B 4
- 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
- ADAM22 4
- ADAT3 4
- ADD1 2
- ADGRL1 1
- AIMP2 6
- AJAP1 2
- ASTN1 3
- ATP2B1 4
- ATP5A1 5
- ATP6AP2 3
- BAIAP2 2
- BLOC1S1 2
- BORCS5 1
- BORCS8 2
- BRSK1 2
- BSN 2
- C12orf66 2
- CACNA1H 8
- CACNA2D1 3
- CAMK2D 1
- CCDC88C 3
- CCT8 1
- CDC42BPB 3
- CDK5 1
- 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
- CRNKL1 3
- CSNK1G1 8
- CTSF 3
- CTU2 1
- CYP27A1 4
- DALRD3 2
- DENND5B 1
- DHCR24 3
- DHCR7 3
- DHRSX 6
- DHX16 2
- DNAJC5 1
- DPM2 5
- EEFSEC 1
- EFHC1 7
- EIF2AK2 1
- ELFN1 1
- EMX2 6
- EPB41L3 2
- EXOC7 1
- FAM50A 2
- FDFT1 3
- FH 4
- FKRP 4
- GCH1 4
- GFM1 3
- GLI3 4
- GLRA1 8
- GLS 3
- GLYCTK 3
- GSS 3
- GTF3C3 4
- GTPBP3 4
- GUF1 2
- HCCS 4
- HEATR5B 2
- HLCS 8
- HOXA1 3
- HPRT1 4
- HSPD1 4
- INPP4A 7
- ISPD 5
- JAKMIP1 2
- JKAMP 1
- KATNB1 3
- KCNB2 1
- KCND3 2
- KDM2A 1
- KIF1BP 8
- LAMC3 1
- LARGE1 4
- LIPT1 1
- LIPT2 4
- LMAN2L 1
- LMNB1 2
- LSS 5
- LYST 3
- MANBA 4
- MARK2 3
- MAST1 4
- MED17 5
- MTR 4
- MT-TK 1
- NCDN 1
- NDP 4
- NDUFA2 5
- NDUFAF3 4
- NDUFAF4 3
- NDUFS1 4
- NDUFS2 4
- NDUFS6 4
- NDUFS7 4
- NECAP1 9
- NOTCH3 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
- PNPLA8 1
- POLG2 3
- POMT2 4
- PPOX 1
- PPP2R2B 1
- PPP2R5C 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
- RNU2-2P 2
- RNU4ATAC 4
- RNU5B-1 2
- RPIA 4
- RPS6KC1 1
- RRM2B 3
- RUSC2 4
- RYR2 4
- RYR3 8
- SAMD12 2
- SCO1 3
- SCO2 4
- SDHA 4
- SIX3 4
- SLC31A1 1
- SLC35A1 4
- SLC35A3 4
- SLC45A1 4
- SNF8 1
- SNX27 5
- SPOUT1 1
- SPR 5
- SPTBN4 2
- STARD7 1
- SUCLG1 3
- SYNCRIP 2
- TANC2 1
- TARS2 1
- TBC1D20 3
- TCP1 1
- TEFM 2
- TELO2 4
- TET3 3
- TMEM106B 2
- TMEM167A 1
- TMEM70 3
- TNK2 3
- TRAF7 4
- TRAPPC6B 4
- TRIP13 3
- TRPM7 1
- TRRAP 5
- TSEN15 4
- TSEN2 3
- TSEN34 3
- TSFM 3
- TUBA8 3
- TUBB 3
- TXNRD1 3
- UBR5 1
- UFC1 4
- UGGT1 2
- UNC13A 1
- USP7 4
- VLDLR 4
- VPS50 2
- WDR47 1
- 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
- FLVCR1 1
- 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
Regions in panel
Prev
Next
-
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss 2 -
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 -
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 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 -
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 -
15q11.2 recurrent region (BP1-BP2) (includes NIPA1) Loss
ISCA-37448-Loss 1
Early onset or syndromic epilepsy
Gene: ADSL Green List (high evidence)
ADSL (adenylosuccinate lyase)
EnsemblGeneIds (GRCh38): ENSG00000239900
EnsemblGeneIds (GRCh37): ENSG00000239900
OMIM: 608222, Gene2Phenotype
ADSL is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000239900
EnsemblGeneIds (GRCh37): ENSG00000239900
OMIM: 608222, Gene2Phenotype
ADSL is in 8 panels
6 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: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
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)
Green List (high evidence)
A -49T>C mutation in the 5' untranslated region has been reported as pathogenic (PMID: 12016589). AR Adenylosuccinase deficiency. Refractory seizures are a feature. Mostly missense variants reported in the literature in association with this condition but a few stop, splicing and small del/ins. The R426H is relatively common. Exression studies by Kmoch et al 2000, showed that the level of residual enzyme activity correlated with the severity of the clinical phenotype.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency, 103050
Publications
Created: 6 Aug 2019, 8:31 p.m.
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188
Last Modified: 6 Aug 2019, 8:31 p.m.
Panel version: 1.188
Amy McTague (UCL Institute of Child Health)
Green List (high evidence)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Publications
- Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513
Variants in this GENE are reported as part of current diagnostic practice
Created: 5 Nov 2017, 2:41 a.m.
Panel version: Imported from Epileptic encephalopathy panel version 0
Panel version: Imported from Epileptic encephalopathy panel version 0
Natalie Trump (NHS - Great Ormond Street Hospital)
Green List (high evidence)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Publications
- Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513
Variants in this GENE are reported as part of current diagnostic practice
Created: 5 Nov 2017, 2:41 a.m.
Panel version: Imported from Epileptic encephalopathy panel version 0
Panel version: Imported from Epileptic encephalopathy panel version 0
Manju Kurian (UCL-Institute of Child Health)
Green List (high evidence)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Publications
- Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513
Variants in this GENE are reported as part of current diagnostic practice
Created: 5 Nov 2017, 2:41 a.m.
Panel version: Imported from Epileptic encephalopathy panel version 0
Panel version: Imported from Epileptic encephalopathy panel version 0
Richard Scott (North Thames GMC/UCL)
Green List (high evidence)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Adenylosuccinase deficiency
Publications
- Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513
Variants in this GENE are reported as part of current diagnostic practice
Created: 5 Nov 2017, 2:41 a.m.
Panel version: Imported from Epileptic encephalopathy panel version 0
Panel version: Imported from Epileptic encephalopathy panel version 0
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Wessex and West Midlands GLH
- NHS GMS
- Victorian Clinical Genetics Services
- UKGTN
- Expert
- Expert Review Green
- Phenotypes
-
- Adenylosuccinase deficiency
- OMIM
- 608222
- Clinvar variants
- Variants in ADSL
- Penetrance
- None
- Publications
-
- Kmoch et al (2000) Hum Mol Genet 9(10): 1501-1513
- Panels with this gene
History Filter Activity
6 Aug 2019, Gel status: 3
Added New Source
Rebecca Foulger (Genomics England curator)Source Wessex and West Midlands GLH was added to ADSL.
6 Aug 2019, Gel status: 3
Added New Source
Rebecca Foulger (Genomics England curator)Source NHS GMS was added to ADSL.
11 Dec 2018, Gel status: 4
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Sarah Leigh: Associated with relevant pheno
25 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to ADSL. Panel: Genetic Epilepsy Syndromes
4 Apr 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)ADSL was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Expert,UKGTN
4 Apr 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)ADSL was created by Sarah Leigh