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Early onset or syndromic epilepsy v1.190 MT-TL1 Rebecca Foulger Source NHS GMS was added to MT-TL1.
Early onset or syndromic epilepsy v1.190 MATN4 Rebecca Foulger Source NHS GMS was added to MATN4.
Early onset or syndromic epilepsy v1.190 MAPK10 Rebecca Foulger Source NHS GMS was added to MAPK10.
Early onset or syndromic epilepsy v1.190 KAT5 Rebecca Foulger Source NHS GMS was added to KAT5.
Early onset or syndromic epilepsy v1.190 INO80 Rebecca Foulger Source NHS GMS was added to INO80.
Early onset or syndromic epilepsy v1.190 H3F3B Rebecca Foulger Source NHS GMS was added to H3F3B.
Early onset or syndromic epilepsy v1.190 H3F3A Rebecca Foulger Source NHS GMS was added to H3F3A.
Early onset or syndromic epilepsy v1.190 GLRB Rebecca Foulger Source NHS GMS was added to GLRB.
Early onset or syndromic epilepsy v1.190 GCSH Rebecca Foulger Source NHS GMS was added to GCSH.
Early onset or syndromic epilepsy v1.190 GATM Rebecca Foulger Source NHS GMS was added to GATM.
Early onset or syndromic epilepsy v1.190 GATAD2B Rebecca Foulger Source NHS GMS was added to GATAD2B.
Early onset or syndromic epilepsy v1.190 GAL Rebecca Foulger Source NHS GMS was added to GAL.
Early onset or syndromic epilepsy v1.190 GABRD Rebecca Foulger Source NHS GMS was added to GABRD.
Early onset or syndromic epilepsy v1.190 FTL Rebecca Foulger Source NHS GMS was added to FTL.
Early onset or syndromic epilepsy v1.190 FIG4 Rebecca Foulger Source NHS GMS was added to FIG4.
Early onset or syndromic epilepsy v1.190 DMBX1 Rebecca Foulger Source NHS GMS was added to DMBX1.
Early onset or syndromic epilepsy v1.190 CYP27A1 Rebecca Foulger Source NHS GMS was added to CYP27A1.
Early onset or syndromic epilepsy v1.190 CSNK1G1 Rebecca Foulger Source NHS GMS was added to CSNK1G1.
Early onset or syndromic epilepsy v1.190 CRH Rebecca Foulger Source NHS GMS was added to CRH.
Early onset or syndromic epilepsy v1.190 CNTN2 Rebecca Foulger Source NHS GMS was added to CNTN2.
Early onset or syndromic epilepsy v1.190 CLN6 Rebecca Foulger Source NHS GMS was added to CLN6.
Early onset or syndromic epilepsy v1.190 CLN5 Rebecca Foulger Source NHS GMS was added to CLN5.
Early onset or syndromic epilepsy v1.190 CLCN2 Rebecca Foulger Source NHS GMS was added to CLCN2.
Early onset or syndromic epilepsy v1.190 CBL Rebecca Foulger Source NHS GMS was added to CBL.
Early onset or syndromic epilepsy v1.190 CASR Rebecca Foulger Source NHS GMS was added to CASR.
Early onset or syndromic epilepsy v1.190 CAMK2G Rebecca Foulger Source NHS GMS was added to CAMK2G.
Early onset or syndromic epilepsy v1.190 CACNB4 Rebecca Foulger Source NHS GMS was added to CACNB4.
Early onset or syndromic epilepsy v1.190 ASAH1 Rebecca Foulger Source NHS GMS was added to ASAH1.
Early onset or syndromic epilepsy v1.190 ALG2 Rebecca Foulger Source NHS GMS was added to ALG2.
Early onset or syndromic epilepsy v1.190 ALG12 Rebecca Foulger Source NHS GMS was added to ALG12.
Early onset or syndromic epilepsy v1.190 ADGRV1 Rebecca Foulger Source NHS GMS was added to ADGRV1.
Early onset or syndromic epilepsy v1.190 AARS2 Rebecca Foulger Source NHS GMS was added to AARS2.
Early onset or syndromic epilepsy v1.190 VLDLR Rebecca Foulger Source NHS GMS was added to VLDLR.
Early onset or syndromic epilepsy v1.190 UFC1 Rebecca Foulger Source NHS GMS was added to UFC1.
Early onset or syndromic epilepsy v1.190 TXNRD1 Rebecca Foulger Source NHS GMS was added to TXNRD1.
Early onset or syndromic epilepsy v1.190 TUBB Rebecca Foulger Source NHS GMS was added to TUBB.
Early onset or syndromic epilepsy v1.190 TUBA8 Rebecca Foulger Source NHS GMS was added to TUBA8.
Early onset or syndromic epilepsy v1.190 TSFM Rebecca Foulger Source NHS GMS was added to TSFM.
Early onset or syndromic epilepsy v1.190 TSEN34 Rebecca Foulger Source NHS GMS was added to TSEN34.
Early onset or syndromic epilepsy v1.190 TSEN15 Rebecca Foulger Source NHS GMS was added to TSEN15.
Early onset or syndromic epilepsy v1.190 TRIP13 Rebecca Foulger Source NHS GMS was added to TRIP13.
Early onset or syndromic epilepsy v1.190 TRAPPC6B Rebecca Foulger Source NHS GMS was added to TRAPPC6B.
Early onset or syndromic epilepsy v1.190 TRAPPC12 Rebecca Foulger Source NHS GMS was added to TRAPPC12.
Early onset or syndromic epilepsy v1.190 TRAF7 Rebecca Foulger Source NHS GMS was added to TRAF7.
Early onset or syndromic epilepsy v1.190 TNK2 Rebecca Foulger Source NHS GMS was added to TNK2.
Early onset or syndromic epilepsy v1.190 TIMM50 Rebecca Foulger Source NHS GMS was added to TIMM50.
Early onset or syndromic epilepsy v1.190 TFE3 Rebecca Foulger Source NHS GMS was added to TFE3.
Early onset or syndromic epilepsy v1.190 TELO2 Rebecca Foulger Source NHS GMS was added to TELO2.
Early onset or syndromic epilepsy v1.190 TBC1D20 Rebecca Foulger Source NHS GMS was added to TBC1D20.
Early onset or syndromic epilepsy v1.190 SUCLG1 Rebecca Foulger Source NHS GMS was added to SUCLG1.
Early onset or syndromic epilepsy v1.190 ST3GAL3 Rebecca Foulger Source NHS GMS was added to ST3GAL3.
Early onset or syndromic epilepsy v1.190 SRPX2 Rebecca Foulger Source NHS GMS was added to SRPX2.
Early onset or syndromic epilepsy v1.190 SPR Rebecca Foulger Source NHS GMS was added to SPR.
Early onset or syndromic epilepsy v1.190 SNIP1 Rebecca Foulger Source NHS GMS was added to SNIP1.
Early onset or syndromic epilepsy v1.190 SMC1A Rebecca Foulger Source NHS GMS was added to SMC1A.
Early onset or syndromic epilepsy v1.190 SLC45A1 Rebecca Foulger Source NHS GMS was added to SLC45A1.
Early onset or syndromic epilepsy v1.190 SLC35A1 Rebecca Foulger Source NHS GMS was added to SLC35A1.
Early onset or syndromic epilepsy v1.190 SIX3 Rebecca Foulger Source NHS GMS was added to SIX3.
Early onset or syndromic epilepsy v1.190 SETD1B Rebecca Foulger Source NHS GMS was added to SETD1B.
Early onset or syndromic epilepsy v1.190 SDHA Rebecca Foulger Source NHS GMS was added to SDHA.
Early onset or syndromic epilepsy v1.190 RYR2 Rebecca Foulger Source NHS GMS was added to RYR2.
Early onset or syndromic epilepsy v1.190 RUSC2 Rebecca Foulger Source NHS GMS was added to RUSC2.
Early onset or syndromic epilepsy v1.190 RRM2B Rebecca Foulger Source NHS GMS was added to RRM2B.
Early onset or syndromic epilepsy v1.190 RPIA Rebecca Foulger Source NHS GMS was added to RPIA.
Early onset or syndromic epilepsy v1.190 RNU4ATAC Rebecca Foulger Source NHS GMS was added to RNU4ATAC.
Early onset or syndromic epilepsy v1.190 RAB3GAP2 Rebecca Foulger Source NHS GMS was added to RAB3GAP2.
Early onset or syndromic epilepsy v1.190 RAB3GAP1 Rebecca Foulger Source NHS GMS was added to RAB3GAP1.
Early onset or syndromic epilepsy v1.190 PTF1A Rebecca Foulger Source NHS GMS was added to PTF1A.
Early onset or syndromic epilepsy v1.190 PSPH Rebecca Foulger Source NHS GMS was added to PSPH.
Early onset or syndromic epilepsy v1.190 PSAT1 Rebecca Foulger Source NHS GMS was added to PSAT1.
Early onset or syndromic epilepsy v1.190 POMT2 Rebecca Foulger Source NHS GMS was added to POMT2.
Early onset or syndromic epilepsy v1.190 PIGQ Rebecca Foulger Source NHS GMS was added to PIGQ.
Early onset or syndromic epilepsy v1.190 PIGH Rebecca Foulger Source NHS GMS was added to PIGH.
Early onset or syndromic epilepsy v1.190 PIGC Rebecca Foulger Source NHS GMS was added to PIGC.
Early onset or syndromic epilepsy v1.190 PEX5 Rebecca Foulger Source NHS GMS was added to PEX5.
Early onset or syndromic epilepsy v1.190 PDSS2 Rebecca Foulger Source NHS GMS was added to PDSS2.
Early onset or syndromic epilepsy v1.190 PCLO Rebecca Foulger Source NHS GMS was added to PCLO.
Early onset or syndromic epilepsy v1.190 OTX2 Rebecca Foulger Source NHS GMS was added to OTX2.
Early onset or syndromic epilepsy v1.190 NUBPL Rebecca Foulger Source NHS GMS was added to NUBPL.
Early onset or syndromic epilepsy v1.190 NPRL2 Rebecca Foulger Source NHS GMS was added to NPRL2.
Early onset or syndromic epilepsy v1.190 NEDD4L Rebecca Foulger Source NHS GMS was added to NEDD4L.
Early onset or syndromic epilepsy v1.190 NECAP1 Rebecca Foulger Source NHS GMS was added to NECAP1.
Early onset or syndromic epilepsy v1.190 NDUFS7 Rebecca Foulger Source NHS GMS was added to NDUFS7.
Early onset or syndromic epilepsy v1.190 NDUFS6 Rebecca Foulger Source NHS GMS was added to NDUFS6.
Early onset or syndromic epilepsy v1.190 NDUFS2 Rebecca Foulger Source NHS GMS was added to NDUFS2.
Early onset or syndromic epilepsy v1.190 NDUFS1 Rebecca Foulger Source NHS GMS was added to NDUFS1.
Early onset or syndromic epilepsy v1.190 NDUFAF4 Rebecca Foulger Source NHS GMS was added to NDUFAF4.
Early onset or syndromic epilepsy v1.190 NDUFAF3 Rebecca Foulger Source NHS GMS was added to NDUFAF3.
Early onset or syndromic epilepsy v1.190 NDUFA2 Rebecca Foulger Source NHS GMS was added to NDUFA2.
Early onset or syndromic epilepsy v1.190 NDP Rebecca Foulger Source NHS GMS was added to NDP.
Early onset or syndromic epilepsy v1.190 MED17 Rebecca Foulger Source NHS GMS was added to MED17.
Early onset or syndromic epilepsy v1.190 MAST1 Rebecca Foulger Source NHS GMS was added to MAST1.
Early onset or syndromic epilepsy v1.190 MANBA Rebecca Foulger Source NHS GMS was added to MANBA.
Early onset or syndromic epilepsy v1.190 LNPK Rebecca Foulger Source NHS GMS was added to LNPK.
Early onset or syndromic epilepsy v1.190 LIPT2 Rebecca Foulger Source NHS GMS was added to LIPT2.
Early onset or syndromic epilepsy v1.190 LARGE1 Rebecca Foulger Source NHS GMS was added to LARGE1.
Early onset or syndromic epilepsy v1.190 KPTN Rebecca Foulger Source NHS GMS was added to KPTN.
Early onset or syndromic epilepsy v1.190 KIAA1109 Rebecca Foulger Source NHS GMS was added to KIAA1109.
Early onset or syndromic epilepsy v1.190 KCNMA1 Rebecca Foulger Source NHS GMS was added to KCNMA1.
Early onset or syndromic epilepsy v1.190 ISPD Rebecca Foulger Source NHS GMS was added to ISPD.
Early onset or syndromic epilepsy v1.190 HSPD1 Rebecca Foulger Source NHS GMS was added to HSPD1.
Early onset or syndromic epilepsy v1.190 HPRT1 Rebecca Foulger Source NHS GMS was added to HPRT1.
Early onset or syndromic epilepsy v1.190 HOXA1 Rebecca Foulger Source NHS GMS was added to HOXA1.
Early onset or syndromic epilepsy v1.190 HEXB Rebecca Foulger Source NHS GMS was added to HEXB.
Early onset or syndromic epilepsy v1.190 HCCS Rebecca Foulger Source NHS GMS was added to HCCS.
Early onset or syndromic epilepsy v1.190 GTPBP3 Rebecca Foulger Source NHS GMS was added to GTPBP3.
Early onset or syndromic epilepsy v1.190 GLRA1 Rebecca Foulger Source NHS GMS was added to GLRA1.
Early onset or syndromic epilepsy v1.190 GLI3 Rebecca Foulger Source NHS GMS was added to GLI3.
Early onset or syndromic epilepsy v1.190 FOXRED1 Rebecca Foulger Source NHS GMS was added to FOXRED1.
Early onset or syndromic epilepsy v1.190 FKRP Rebecca Foulger Source NHS GMS was added to FKRP.
Early onset or syndromic epilepsy v1.190 FASTKD2 Rebecca Foulger Source NHS GMS was added to FASTKD2.
Early onset or syndromic epilepsy v1.190 EIF2B3 Rebecca Foulger Source NHS GMS was added to EIF2B3.
Early onset or syndromic epilepsy v1.190 EIF2B1 Rebecca Foulger Source NHS GMS was added to EIF2B1.
Early onset or syndromic epilepsy v1.190 EFHC1 Rebecca Foulger Source NHS GMS was added to EFHC1.
Early onset or syndromic epilepsy v1.190 DPM2 Rebecca Foulger Source NHS GMS was added to DPM2.
Early onset or syndromic epilepsy v1.190 DOLK Rebecca Foulger Source NHS GMS was added to DOLK.
Early onset or syndromic epilepsy v1.190 DNAJC6 Rebecca Foulger Source NHS GMS was added to DNAJC6.
Early onset or syndromic epilepsy v1.190 DHCR24 Rebecca Foulger Source NHS GMS was added to DHCR24.
Early onset or syndromic epilepsy v1.190 DBT Rebecca Foulger Source NHS GMS was added to DBT.
Early onset or syndromic epilepsy v1.190 CUX2 Rebecca Foulger Source NHS GMS was added to CUX2.
Early onset or syndromic epilepsy v1.190 CSNK2B Rebecca Foulger Source NHS GMS was added to CSNK2B.
Early onset or syndromic epilepsy v1.190 COX15 Rebecca Foulger Source NHS GMS was added to COX15.
Early onset or syndromic epilepsy v1.190 COX10 Rebecca Foulger Source NHS GMS was added to COX10.
Early onset or syndromic epilepsy v1.190 COQ6 Rebecca Foulger Source NHS GMS was added to COQ6.
Early onset or syndromic epilepsy v1.190 COG8 Rebecca Foulger Source NHS GMS was added to COG8.
Early onset or syndromic epilepsy v1.190 COG6 Rebecca Foulger Source NHS GMS was added to COG6.
Early onset or syndromic epilepsy v1.190 COG4 Rebecca Foulger Source NHS GMS was added to COG4.
Early onset or syndromic epilepsy v1.190 CNPY3 Rebecca Foulger Source NHS GMS was added to CNPY3.
Early onset or syndromic epilepsy v1.190 CCND2 Rebecca Foulger Source NHS GMS was added to CCND2.
Early onset or syndromic epilepsy v1.190 CCDC88C Rebecca Foulger Source NHS GMS was added to CCDC88C.
Early onset or syndromic epilepsy v1.190 CCDC88A Rebecca Foulger Source NHS GMS was added to CCDC88A.
Early onset or syndromic epilepsy v1.190 CACNA2D2 Rebecca Foulger Source NHS GMS was added to CACNA2D2.
Early onset or syndromic epilepsy v1.190 CACNA1H Rebecca Foulger Source NHS GMS was added to CACNA1H.
Early onset or syndromic epilepsy v1.190 ATP6AP2 Rebecca Foulger Source NHS GMS was added to ATP6AP2.
Early onset or syndromic epilepsy v1.190 ATP5A1 Rebecca Foulger Source NHS GMS was added to ATP5A1.
Early onset or syndromic epilepsy v1.190 ATP1A2 Rebecca Foulger Source NHS GMS was added to ATP1A2.
Early onset or syndromic epilepsy v1.190 ADAT3 Rebecca Foulger Source NHS GMS was added to ADAT3.
Early onset or syndromic epilepsy v1.190 ZBTB18 Rebecca Foulger Source NHS GMS was added to ZBTB18.
Early onset or syndromic epilepsy v1.190 YWHAG Rebecca Foulger Source NHS GMS was added to YWHAG.
Early onset or syndromic epilepsy v1.190 WDR73 Rebecca Foulger Source NHS GMS was added to WDR73.
Early onset or syndromic epilepsy v1.190 WDR62 Rebecca Foulger Source NHS GMS was added to WDR62.
Early onset or syndromic epilepsy v1.190 WASF1 Rebecca Foulger Source NHS GMS was added to WASF1.
Early onset or syndromic epilepsy v1.190 VARS Rebecca Foulger Source NHS GMS was added to VARS.
Early onset or syndromic epilepsy v1.190 UNC80 Rebecca Foulger Source NHS GMS was added to UNC80.
Early onset or syndromic epilepsy v1.190 UFM1 Rebecca Foulger Source NHS GMS was added to UFM1.
Early onset or syndromic epilepsy v1.190 UBA5 Rebecca Foulger Source NHS GMS was added to UBA5.
Early onset or syndromic epilepsy v1.190 TUBG1 Rebecca Foulger Source NHS GMS was added to TUBG1.
Early onset or syndromic epilepsy v1.190 TUBB4A Rebecca Foulger Source NHS GMS was added to TUBB4A.
Early onset or syndromic epilepsy v1.190 TUBB3 Rebecca Foulger Source NHS GMS was added to TUBB3.
Early onset or syndromic epilepsy v1.190 TUBB2B Rebecca Foulger Source NHS GMS was added to TUBB2B.
Early onset or syndromic epilepsy v1.190 TUBB2A Rebecca Foulger Source NHS GMS was added to TUBB2A.
Early onset or syndromic epilepsy v1.190 TUBA1A Rebecca Foulger Source NHS GMS was added to TUBA1A.
Early onset or syndromic epilepsy v1.190 TSEN54 Rebecca Foulger Source NHS GMS was added to TSEN54.
Early onset or syndromic epilepsy v1.190 TSEN2 Rebecca Foulger Source NHS GMS was added to TSEN2.
Early onset or syndromic epilepsy v1.190 TSC2 Rebecca Foulger Source NHS GMS was added to TSC2.
Early onset or syndromic epilepsy v1.190 TSC1 Rebecca Foulger Source NHS GMS was added to TSC1.
Early onset or syndromic epilepsy v1.190 TRIM8 Rebecca Foulger Source NHS GMS was added to TRIM8.
Early onset or syndromic epilepsy v1.190 TREX1 Rebecca Foulger Source NHS GMS was added to TREX1.
Early onset or syndromic epilepsy v1.190 TMEM70 Rebecca Foulger Source NHS GMS was added to TMEM70.
Early onset or syndromic epilepsy v1.190 TBL1XR1 Rebecca Foulger Source NHS GMS was added to TBL1XR1.
Early onset or syndromic epilepsy v1.190 TBCK Rebecca Foulger Source NHS GMS was added to TBCK.
Early onset or syndromic epilepsy v1.190 TBCD Rebecca Foulger Source NHS GMS was added to TBCD.
Early onset or syndromic epilepsy v1.190 TANGO2 Rebecca Foulger Source NHS GMS was added to TANGO2.
Early onset or syndromic epilepsy v1.190 SYN1 Rebecca Foulger Source NHS GMS was added to SYN1.
Early onset or syndromic epilepsy v1.190 SURF1 Rebecca Foulger Source NHS GMS was added to SURF1.
Early onset or syndromic epilepsy v1.190 SUCLA2 Rebecca Foulger Source NHS GMS was added to SUCLA2.
Early onset or syndromic epilepsy v1.190 STAMBP Rebecca Foulger Source NHS GMS was added to STAMBP.
Early onset or syndromic epilepsy v1.190 STAG1 Rebecca Foulger Source NHS GMS was added to STAG1.
Early onset or syndromic epilepsy v1.190 ST3GAL5 Rebecca Foulger Source NHS GMS was added to ST3GAL5.
Early onset or syndromic epilepsy v1.190 SNORD118 Rebecca Foulger Source NHS GMS was added to SNORD118.
Early onset or syndromic epilepsy v1.190 SMS Rebecca Foulger Source NHS GMS was added to SMS.
Early onset or syndromic epilepsy v1.190 SMARCA2 Rebecca Foulger Source NHS GMS was added to SMARCA2.
Early onset or syndromic epilepsy v1.190 SLC6A8 Rebecca Foulger Source NHS GMS was added to SLC6A8.
Early onset or syndromic epilepsy v1.190 SLC25A12 Rebecca Foulger Source NHS GMS was added to SLC25A12.
Early onset or syndromic epilepsy v1.190 SLC1A4 Rebecca Foulger Source NHS GMS was added to SLC1A4.
Early onset or syndromic epilepsy v1.190 SETBP1 Rebecca Foulger Source NHS GMS was added to SETBP1.
Early onset or syndromic epilepsy v1.190 SEPSECS Rebecca Foulger Source NHS GMS was added to SEPSECS.
Early onset or syndromic epilepsy v1.190 SCO2 Rebecca Foulger Source NHS GMS was added to SCO2.
Early onset or syndromic epilepsy v1.190 SCO1 Rebecca Foulger Source NHS GMS was added to SCO1.
Early onset or syndromic epilepsy v1.190 SCN3A Rebecca Foulger Source NHS GMS was added to SCN3A.
Early onset or syndromic epilepsy v1.190 SAMHD1 Rebecca Foulger Source NHS GMS was added to SAMHD1.
Early onset or syndromic epilepsy v1.190 RTTN Rebecca Foulger Source NHS GMS was added to RTTN.
Early onset or syndromic epilepsy v1.190 RTN4IP1 Rebecca Foulger Source NHS GMS was added to RTN4IP1.
Early onset or syndromic epilepsy v1.190 RORB Rebecca Foulger Source NHS GMS was added to RORB.
Early onset or syndromic epilepsy v1.190 RORA Rebecca Foulger Source NHS GMS was added to RORA.
Early onset or syndromic epilepsy v1.190 ROGDI Rebecca Foulger Source NHS GMS was added to ROGDI.
Early onset or syndromic epilepsy v1.190 RNASET2 Rebecca Foulger Source NHS GMS was added to RNASET2.
Early onset or syndromic epilepsy v1.190 RNASEH2C Rebecca Foulger Source NHS GMS was added to RNASEH2C.
Early onset or syndromic epilepsy v1.190 RNASEH2B Rebecca Foulger Source NHS GMS was added to RNASEH2B.
Early onset or syndromic epilepsy v1.190 RNASEH2A Rebecca Foulger Source NHS GMS was added to RNASEH2A.
Early onset or syndromic epilepsy v1.190 RMND1 Rebecca Foulger Source NHS GMS was added to RMND1.
Early onset or syndromic epilepsy v1.190 RHOBTB2 Rebecca Foulger Source NHS GMS was added to RHOBTB2.
Early onset or syndromic epilepsy v1.190 RFT1 Rebecca Foulger Source NHS GMS was added to RFT1.
Early onset or syndromic epilepsy v1.190 RELN Rebecca Foulger Source NHS GMS was added to RELN.
Early onset or syndromic epilepsy v1.190 RARS2 Rebecca Foulger Source NHS GMS was added to RARS2.
Early onset or syndromic epilepsy v1.190 RALA Rebecca Foulger Source NHS GMS was added to RALA.
Early onset or syndromic epilepsy v1.190 RAB18 Rebecca Foulger Source NHS GMS was added to RAB18.
Early onset or syndromic epilepsy v1.190 RAB11B Rebecca Foulger Source NHS GMS was added to RAB11B.
Early onset or syndromic epilepsy v1.190 QDPR Rebecca Foulger Source NHS GMS was added to QDPR.
Early onset or syndromic epilepsy v1.190 PTS Rebecca Foulger Source NHS GMS was added to PTS.
Early onset or syndromic epilepsy v1.190 PTPN23 Rebecca Foulger Source NHS GMS was added to PTPN23.
Early onset or syndromic epilepsy v1.190 PTEN Rebecca Foulger Source NHS GMS was added to PTEN.
Early onset or syndromic epilepsy v1.190 PSAP Rebecca Foulger Source NHS GMS was added to PSAP.
Early onset or syndromic epilepsy v1.190 PRMT7 Rebecca Foulger Source NHS GMS was added to PRMT7.
Early onset or syndromic epilepsy v1.190 PRICKLE1 Rebecca Foulger Source NHS GMS was added to PRICKLE1.
Early onset or syndromic epilepsy v1.190 PPT1 Rebecca Foulger Source NHS GMS was added to PPT1.
Early onset or syndromic epilepsy v1.190 PPP3CA Rebecca Foulger Source NHS GMS was added to PPP3CA.
Early onset or syndromic epilepsy v1.190 POMT1 Rebecca Foulger Source NHS GMS was added to POMT1.
Early onset or syndromic epilepsy v1.190 POMGNT1 Rebecca Foulger Source NHS GMS was added to POMGNT1.
Early onset or syndromic epilepsy v1.190 PMM2 Rebecca Foulger Source NHS GMS was added to PMM2.
Early onset or syndromic epilepsy v1.190 PLAA Rebecca Foulger Source NHS GMS was added to PLAA.
Early onset or syndromic epilepsy v1.190 PIK3R2 Rebecca Foulger Source NHS GMS was added to PIK3R2.
Early onset or syndromic epilepsy v1.190 PIK3CA Rebecca Foulger Source NHS GMS was added to PIK3CA.
Early onset or syndromic epilepsy v1.190 PIGW Rebecca Foulger Source NHS GMS was added to PIGW.
Early onset or syndromic epilepsy v1.190 PIGO Rebecca Foulger Source NHS GMS was added to PIGO.
Early onset or syndromic epilepsy v1.190 PIGG Rebecca Foulger Source NHS GMS was added to PIGG.
Early onset or syndromic epilepsy v1.190 PHGDH Rebecca Foulger Source NHS GMS was added to PHGDH.
Early onset or syndromic epilepsy v1.190 PHACTR1 Rebecca Foulger Source NHS GMS was added to PHACTR1.
Early onset or syndromic epilepsy v1.190 PEX7 Rebecca Foulger Source NHS GMS was added to PEX7.
Early onset or syndromic epilepsy v1.190 PEX6 Rebecca Foulger Source NHS GMS was added to PEX6.
Early onset or syndromic epilepsy v1.190 PEX3 Rebecca Foulger Source NHS GMS was added to PEX3.
Early onset or syndromic epilepsy v1.190 PEX2 Rebecca Foulger Source NHS GMS was added to PEX2.
Early onset or syndromic epilepsy v1.190 PEX19 Rebecca Foulger Source NHS GMS was added to PEX19.
Early onset or syndromic epilepsy v1.190 PEX13 Rebecca Foulger Source NHS GMS was added to PEX13.
Early onset or syndromic epilepsy v1.190 PEX12 Rebecca Foulger Source NHS GMS was added to PEX12.
Early onset or syndromic epilepsy v1.190 PEX10 Rebecca Foulger Source NHS GMS was added to PEX10.
Early onset or syndromic epilepsy v1.190 PEX1 Rebecca Foulger Source NHS GMS was added to PEX1.
Early onset or syndromic epilepsy v1.190 PET100 Rebecca Foulger Source NHS GMS was added to PET100.
Early onset or syndromic epilepsy v1.190 PDHX Rebecca Foulger Source NHS GMS was added to PDHX.
Early onset or syndromic epilepsy v1.190 PDHA1 Rebecca Foulger Source NHS GMS was added to PDHA1.
Early onset or syndromic epilepsy v1.190 PCDH12 Rebecca Foulger Source NHS GMS was added to PCDH12.
Early onset or syndromic epilepsy v1.190 PCCB Rebecca Foulger Source NHS GMS was added to PCCB.
Early onset or syndromic epilepsy v1.190 PCCA Rebecca Foulger Source NHS GMS was added to PCCA.
Early onset or syndromic epilepsy v1.190 PAH Rebecca Foulger Source NHS GMS was added to PAH.
Early onset or syndromic epilepsy v1.190 PAFAH1B1 Rebecca Foulger Source NHS GMS was added to PAFAH1B1.
Early onset or syndromic epilepsy v1.190 PACS2 Rebecca Foulger Source NHS GMS was added to PACS2.
Early onset or syndromic epilepsy v1.190 PACS1 Rebecca Foulger Source NHS GMS was added to PACS1.
Early onset or syndromic epilepsy v1.190 OTUD6B Rebecca Foulger Source NHS GMS was added to OTUD6B.
Early onset or syndromic epilepsy v1.190 OPHN1 Rebecca Foulger Source NHS GMS was added to OPHN1.
Early onset or syndromic epilepsy v1.190 OCLN Rebecca Foulger Source NHS GMS was added to OCLN.
Early onset or syndromic epilepsy v1.190 NTRK2 Rebecca Foulger Source NHS GMS was added to NTRK2.
Early onset or syndromic epilepsy v1.190 NSDHL Rebecca Foulger Source NHS GMS was added to NSDHL.
Early onset or syndromic epilepsy v1.190 NSD1 Rebecca Foulger Source NHS GMS was added to NSD1.
Early onset or syndromic epilepsy v1.190 NRXN1 Rebecca Foulger Source NHS GMS was added to NRXN1.
Early onset or syndromic epilepsy v1.190 NPRL3 Rebecca Foulger Source NHS GMS was added to NPRL3.
Early onset or syndromic epilepsy v1.190 NHLRC1 Rebecca Foulger Source NHS GMS was added to NHLRC1.
Early onset or syndromic epilepsy v1.190 NGLY1 Rebecca Foulger Source NHS GMS was added to NGLY1.
Early onset or syndromic epilepsy v1.190 NDUFV1 Rebecca Foulger Source NHS GMS was added to NDUFV1.
Early onset or syndromic epilepsy v1.190 NDUFS8 Rebecca Foulger Source NHS GMS was added to NDUFS8.
Early onset or syndromic epilepsy v1.190 NDUFS4 Rebecca Foulger Source NHS GMS was added to NDUFS4.
Early onset or syndromic epilepsy v1.190 NDUFAF5 Rebecca Foulger Source NHS GMS was added to NDUFAF5.
Early onset or syndromic epilepsy v1.190 NDUFAF2 Rebecca Foulger Source NHS GMS was added to NDUFAF2.
Early onset or syndromic epilepsy v1.190 NDUFA10 Rebecca Foulger Source NHS GMS was added to NDUFA10.
Early onset or syndromic epilepsy v1.190 NDUFA1 Rebecca Foulger Source NHS GMS was added to NDUFA1.
Early onset or syndromic epilepsy v1.190 NDE1 Rebecca Foulger Source NHS GMS was added to NDE1.
Early onset or syndromic epilepsy v1.190 NARS2 Rebecca Foulger Source NHS GMS was added to NARS2.
Early onset or syndromic epilepsy v1.190 NAGA Rebecca Foulger Source NHS GMS was added to NAGA.
Early onset or syndromic epilepsy v1.190 MTR Rebecca Foulger Source NHS GMS was added to MTR.
Early onset or syndromic epilepsy v1.190 MTHFR Rebecca Foulger Source NHS GMS was added to MTHFR.
Early onset or syndromic epilepsy v1.190 MPDU1 Rebecca Foulger Source NHS GMS was added to MPDU1.
Early onset or syndromic epilepsy v1.190 MOCS2 Rebecca Foulger Source NHS GMS was added to MOCS2.
Early onset or syndromic epilepsy v1.190 MOCS1 Rebecca Foulger Source NHS GMS was added to MOCS1.
Early onset or syndromic epilepsy v1.190 MMADHC Rebecca Foulger Source NHS GMS was added to MMADHC.
Early onset or syndromic epilepsy v1.190 MMACHC Rebecca Foulger Source NHS GMS was added to MMACHC.
Early onset or syndromic epilepsy v1.190 MLC1 Rebecca Foulger Source NHS GMS was added to MLC1.
Early onset or syndromic epilepsy v1.190 MFSD8 Rebecca Foulger Source NHS GMS was added to MFSD8.
Early onset or syndromic epilepsy v1.190 MED12 Rebecca Foulger Source NHS GMS was added to MED12.
Early onset or syndromic epilepsy v1.190 MAP2K2 Rebecca Foulger Source NHS GMS was added to MAP2K2.
Early onset or syndromic epilepsy v1.190 MAP2K1 Rebecca Foulger Source NHS GMS was added to MAP2K1.
Early onset or syndromic epilepsy v1.190 MAGI2 Rebecca Foulger Source NHS GMS was added to MAGI2.
Early onset or syndromic epilepsy v1.190 MAF Rebecca Foulger Source NHS GMS was added to MAF.
Early onset or syndromic epilepsy v1.190 MACF1 Rebecca Foulger Source NHS GMS was added to MACF1.
Early onset or syndromic epilepsy v1.190 LYST Rebecca Foulger Source NHS GMS was added to LYST.
Early onset or syndromic epilepsy v1.190 LIAS Rebecca Foulger Source NHS GMS was added to LIAS.
Early onset or syndromic epilepsy v1.190 KRAS Rebecca Foulger Source NHS GMS was added to KRAS.
Early onset or syndromic epilepsy v1.190 KIF5C Rebecca Foulger Source NHS GMS was added to KIF5C.
Early onset or syndromic epilepsy v1.190 KIF2A Rebecca Foulger Source NHS GMS was added to KIF2A.
Early onset or syndromic epilepsy v1.190 KIF1A Rebecca Foulger Source NHS GMS was added to KIF1A.
Early onset or syndromic epilepsy v1.190 KCTD3 Rebecca Foulger Source NHS GMS was added to KCTD3.
Early onset or syndromic epilepsy v1.190 KCNQ5 Rebecca Foulger Source NHS GMS was added to KCNQ5.
Early onset or syndromic epilepsy v1.190 KCNK4 Rebecca Foulger Source NHS GMS was added to KCNK4.
Early onset or syndromic epilepsy v1.190 KCNJ11 Rebecca Foulger Source NHS GMS was added to KCNJ11.
Early onset or syndromic epilepsy v1.190 KCNA1 Rebecca Foulger Source NHS GMS was added to KCNA1.
Early onset or syndromic epilepsy v1.190 KARS Rebecca Foulger Source NHS GMS was added to KARS.
Early onset or syndromic epilepsy v1.190 IRF2BPL Rebecca Foulger Source NHS GMS was added to IRF2BPL.
Early onset or syndromic epilepsy v1.190 IKBKG Rebecca Foulger Source NHS GMS was added to IKBKG.
Early onset or syndromic epilepsy v1.190 IFIH1 Rebecca Foulger Source NHS GMS was added to IFIH1.
Early onset or syndromic epilepsy v1.190 HSD17B4 Rebecca Foulger Source NHS GMS was added to HSD17B4.
Early onset or syndromic epilepsy v1.190 HRAS Rebecca Foulger Source NHS GMS was added to HRAS.
Early onset or syndromic epilepsy v1.190 HLCS Rebecca Foulger Source NHS GMS was added to HLCS.
Early onset or syndromic epilepsy v1.190 HEXA Rebecca Foulger Source NHS GMS was added to HEXA.
Early onset or syndromic epilepsy v1.190 HEPACAM Rebecca Foulger Source NHS GMS was added to HEPACAM.
Early onset or syndromic epilepsy v1.190 HCN2 Rebecca Foulger Source NHS GMS was added to HCN2.
Early onset or syndromic epilepsy v1.190 HCFC1 Rebecca Foulger Source NHS GMS was added to HCFC1.
Early onset or syndromic epilepsy v1.190 HAX1 Rebecca Foulger Source NHS GMS was added to HAX1.
Early onset or syndromic epilepsy v1.190 HACE1 Rebecca Foulger Source NHS GMS was added to HACE1.
Early onset or syndromic epilepsy v1.190 GTPBP2 Rebecca Foulger Source NHS GMS was added to GTPBP2.
Early onset or syndromic epilepsy v1.190 GRIN2D Rebecca Foulger Source NHS GMS was added to GRIN2D.
Early onset or syndromic epilepsy v1.190 GRIA4 Rebecca Foulger Source NHS GMS was added to GRIA4.
Early onset or syndromic epilepsy v1.190 GPHN Rebecca Foulger Source NHS GMS was added to GPHN.
Early onset or syndromic epilepsy v1.190 GOSR2 Rebecca Foulger Source NHS GMS was added to GOSR2.
Early onset or syndromic epilepsy v1.190 GNB5 Rebecca Foulger Source NHS GMS was added to GNB5.
Early onset or syndromic epilepsy v1.190 GNB1 Rebecca Foulger Source NHS GMS was added to GNB1.
Early onset or syndromic epilepsy v1.190 GNAQ Rebecca Foulger Source NHS GMS was added to GNAQ.
Early onset or syndromic epilepsy v1.190 GM2A Rebecca Foulger Source NHS GMS was added to GM2A.
Early onset or syndromic epilepsy v1.190 GLUL Rebecca Foulger Source NHS GMS was added to GLUL.
Early onset or syndromic epilepsy v1.190 GLUD1 Rebecca Foulger Source NHS GMS was added to GLUD1.
Early onset or syndromic epilepsy v1.190 GLDC Rebecca Foulger Source NHS GMS was added to GLDC.
Early onset or syndromic epilepsy v1.190 GLB1 Rebecca Foulger Source NHS GMS was added to GLB1.
Early onset or syndromic epilepsy v1.190 GFM1 Rebecca Foulger Source NHS GMS was added to GFM1.
Early onset or syndromic epilepsy v1.190 GFAP Rebecca Foulger Source NHS GMS was added to GFAP.
Early onset or syndromic epilepsy v1.190 GCH1 Rebecca Foulger Source NHS GMS was added to GCH1.
Early onset or syndromic epilepsy v1.190 GBA Rebecca Foulger Source NHS GMS was added to GBA.
Early onset or syndromic epilepsy v1.190 GAMT Rebecca Foulger Source NHS GMS was added to GAMT.
Early onset or syndromic epilepsy v1.190 GALC Rebecca Foulger Source NHS GMS was added to GALC.
Early onset or syndromic epilepsy v1.190 GABRB2 Rebecca Foulger Source NHS GMS was added to GABRB2.
Early onset or syndromic epilepsy v1.190 FUT8 Rebecca Foulger Source NHS GMS was added to FUT8.
Early onset or syndromic epilepsy v1.190 FUCA1 Rebecca Foulger Source NHS GMS was added to FUCA1.
Early onset or syndromic epilepsy v1.190 FRRS1L Rebecca Foulger Source NHS GMS was added to FRRS1L.
Early onset or syndromic epilepsy v1.190 FOLR1 Rebecca Foulger Source NHS GMS was added to FOLR1.
Early onset or syndromic epilepsy v1.190 FLNA Rebecca Foulger Source NHS GMS was added to FLNA.
Early onset or syndromic epilepsy v1.190 FKTN Rebecca Foulger Source NHS GMS was added to FKTN.
Early onset or syndromic epilepsy v1.190 FH Rebecca Foulger Source NHS GMS was added to FH.
Early onset or syndromic epilepsy v1.190 FGFR3 Rebecca Foulger Source NHS GMS was added to FGFR3.
Early onset or syndromic epilepsy v1.190 FGF12 Rebecca Foulger Source NHS GMS was added to FGF12.
Early onset or syndromic epilepsy v1.190 FBXO11 Rebecca Foulger Source NHS GMS was added to FBXO11.
Early onset or syndromic epilepsy v1.190 FBXL4 Rebecca Foulger Source NHS GMS was added to FBXL4.
Early onset or syndromic epilepsy v1.190 FARS2 Rebecca Foulger Source NHS GMS was added to FARS2.
Early onset or syndromic epilepsy v1.190 FAR1 Rebecca Foulger Source NHS GMS was added to FAR1.
Early onset or syndromic epilepsy v1.190 EXOSC3 Rebecca Foulger Source NHS GMS was added to EXOSC3.
Early onset or syndromic epilepsy v1.190 ETHE1 Rebecca Foulger Source NHS GMS was added to ETHE1.
Early onset or syndromic epilepsy v1.190 EMX2 Rebecca Foulger Source NHS GMS was added to EMX2.
Early onset or syndromic epilepsy v1.190 EIF3F Rebecca Foulger Source NHS GMS was added to EIF3F.
Early onset or syndromic epilepsy v1.190 EIF2S3 Rebecca Foulger Source NHS GMS was added to EIF2S3.
Early onset or syndromic epilepsy v1.190 EIF2B5 Rebecca Foulger Source NHS GMS was added to EIF2B5.
Early onset or syndromic epilepsy v1.190 EIF2B4 Rebecca Foulger Source NHS GMS was added to EIF2B4.
Early onset or syndromic epilepsy v1.190 EIF2B2 Rebecca Foulger Source NHS GMS was added to EIF2B2.
Early onset or syndromic epilepsy v1.190 EFTUD2 Rebecca Foulger Source NHS GMS was added to EFTUD2.
Early onset or syndromic epilepsy v1.190 EEF1A2 Rebecca Foulger Source NHS GMS was added to EEF1A2.
Early onset or syndromic epilepsy v1.190 EARS2 Rebecca Foulger Source NHS GMS was added to EARS2.
Early onset or syndromic epilepsy v1.190 DYNC1H1 Rebecca Foulger Source NHS GMS was added to DYNC1H1.
Early onset or syndromic epilepsy v1.190 DPM1 Rebecca Foulger Source NHS GMS was added to DPM1.
Early onset or syndromic epilepsy v1.190 DPAGT1 Rebecca Foulger Source NHS GMS was added to DPAGT1.
Early onset or syndromic epilepsy v1.190 DNM1L Rebecca Foulger Source NHS GMS was added to DNM1L.
Early onset or syndromic epilepsy v1.190 DHX30 Rebecca Foulger Source NHS GMS was added to DHX30.
Early onset or syndromic epilepsy v1.190 DHDDS Rebecca Foulger Source NHS GMS was added to DHDDS.
Early onset or syndromic epilepsy v1.190 DHCR7 Rebecca Foulger Source NHS GMS was added to DHCR7.
Early onset or syndromic epilepsy v1.190 DENND5A Rebecca Foulger Source NHS GMS was added to DENND5A.
Early onset or syndromic epilepsy v1.190 DEAF1 Rebecca Foulger Source NHS GMS was added to DEAF1.
Early onset or syndromic epilepsy v1.190 DDX3X Rebecca Foulger Source NHS GMS was added to DDX3X.
Early onset or syndromic epilepsy v1.190 DCX Rebecca Foulger Source NHS GMS was added to DCX.
Early onset or syndromic epilepsy v1.190 D2HGDH Rebecca Foulger Source NHS GMS was added to D2HGDH.
Early onset or syndromic epilepsy v1.190 CTSD Rebecca Foulger Source NHS GMS was added to CTSD.
Early onset or syndromic epilepsy v1.190 CSTB Rebecca Foulger Source NHS GMS was added to CSTB.
Early onset or syndromic epilepsy v1.190 CREBBP Rebecca Foulger Source NHS GMS was added to CREBBP.
Early onset or syndromic epilepsy v1.190 COQ9 Rebecca Foulger Source NHS GMS was added to COQ9.
Early onset or syndromic epilepsy v1.190 COQ4 Rebecca Foulger Source NHS GMS was added to COQ4.
Early onset or syndromic epilepsy v1.190 COQ2 Rebecca Foulger Source NHS GMS was added to COQ2.
Early onset or syndromic epilepsy v1.190 COL4A2 Rebecca Foulger Source NHS GMS was added to COL4A2.
Early onset or syndromic epilepsy v1.190 COL4A1 Rebecca Foulger Source NHS GMS was added to COL4A1.
Early onset or syndromic epilepsy v1.190 COL18A1 Rebecca Foulger Source NHS GMS was added to COL18A1.
Early onset or syndromic epilepsy v1.190 COG7 Rebecca Foulger Source NHS GMS was added to COG7.
Early onset or syndromic epilepsy v1.190 CNNM2 Rebecca Foulger Source NHS GMS was added to CNNM2.
Early onset or syndromic epilepsy v1.190 CLN3 Rebecca Foulger Source NHS GMS was added to CLN3.
Early onset or syndromic epilepsy v1.190 CLCN4 Rebecca Foulger Source NHS GMS was added to CLCN4.
Early onset or syndromic epilepsy v1.190 CC2D2A Rebecca Foulger Source NHS GMS was added to CC2D2A.
Early onset or syndromic epilepsy v1.190 CASK Rebecca Foulger Source NHS GMS was added to CASK.
Early onset or syndromic epilepsy v1.190 CAD Rebecca Foulger Source NHS GMS was added to CAD.
Early onset or syndromic epilepsy v1.190 CACNA1G Rebecca Foulger Source NHS GMS was added to CACNA1G.
Early onset or syndromic epilepsy v1.190 CACNA1E Rebecca Foulger Source NHS GMS was added to CACNA1E.
Early onset or syndromic epilepsy v1.190 CACNA1A Rebecca Foulger Source NHS GMS was added to CACNA1A.
Early onset or syndromic epilepsy v1.190 C12orf57 Rebecca Foulger Source NHS GMS was added to C12orf57.
Early onset or syndromic epilepsy v1.190 BTD Rebecca Foulger Source NHS GMS was added to BTD.
Early onset or syndromic epilepsy v1.190 BRAF Rebecca Foulger Source NHS GMS was added to BRAF.
Early onset or syndromic epilepsy v1.190 BOLA3 Rebecca Foulger Source NHS GMS was added to BOLA3.
Early onset or syndromic epilepsy v1.190 BCS1L Rebecca Foulger Source NHS GMS was added to BCS1L.
Early onset or syndromic epilepsy v1.190 BCKDHB Rebecca Foulger Source NHS GMS was added to BCKDHB.
Early onset or syndromic epilepsy v1.190 BCKDHA Rebecca Foulger Source NHS GMS was added to BCKDHA.
Early onset or syndromic epilepsy v1.190 ATP7A Rebecca Foulger Source NHS GMS was added to ATP7A.
Early onset or syndromic epilepsy v1.190 ATP6V1A Rebecca Foulger Source NHS GMS was added to ATP6V1A.
Early onset or syndromic epilepsy v1.190 ATP1A1 Rebecca Foulger Source NHS GMS was added to ATP1A1.
Early onset or syndromic epilepsy v1.190 ASPA Rebecca Foulger Source NHS GMS was added to ASPA.
Early onset or syndromic epilepsy v1.190 ARV1 Rebecca Foulger Source NHS GMS was added to ARV1.
Early onset or syndromic epilepsy v1.190 ARID1B Rebecca Foulger Source NHS GMS was added to ARID1B.
Early onset or syndromic epilepsy v1.190 ARG1 Rebecca Foulger Source NHS GMS was added to ARG1.
Early onset or syndromic epilepsy v1.190 ARFGEF2 Rebecca Foulger Source NHS GMS was added to ARFGEF2.
Early onset or syndromic epilepsy v1.190 AP3B2 Rebecca Foulger Source NHS GMS was added to AP3B2.
Early onset or syndromic epilepsy v1.190 AMT Rebecca Foulger Source NHS GMS was added to AMT.
Early onset or syndromic epilepsy v1.190 AMPD2 Rebecca Foulger Source NHS GMS was added to AMPD2.
Early onset or syndromic epilepsy v1.190 ALPL Rebecca Foulger Source NHS GMS was added to ALPL.
Early onset or syndromic epilepsy v1.190 ALG9 Rebecca Foulger Source NHS GMS was added to ALG9.
Early onset or syndromic epilepsy v1.190 ALG8 Rebecca Foulger Source NHS GMS was added to ALG8.
Early onset or syndromic epilepsy v1.190 ALG6 Rebecca Foulger Source NHS GMS was added to ALG6.
Early onset or syndromic epilepsy v1.190 ALG3 Rebecca Foulger Source NHS GMS was added to ALG3.
Early onset or syndromic epilepsy v1.190 ALG1 Rebecca Foulger Source NHS GMS was added to ALG1.
Early onset or syndromic epilepsy v1.190 ALDH5A1 Rebecca Foulger Source NHS GMS was added to ALDH5A1.
Early onset or syndromic epilepsy v1.190 AKT3 Rebecca Foulger Source NHS GMS was added to AKT3.
Early onset or syndromic epilepsy v1.190 AKT1 Rebecca Foulger Source NHS GMS was added to AKT1.
Early onset or syndromic epilepsy v1.190 AIMP1 Rebecca Foulger Source NHS GMS was added to AIMP1.
Early onset or syndromic epilepsy v1.190 ADPRHL2 Rebecca Foulger Source NHS GMS was added to ADPRHL2.
Early onset or syndromic epilepsy v1.190 ADGRG1 Rebecca Foulger Source NHS GMS was added to ADGRG1.
Early onset or syndromic epilepsy v1.190 ADAR Rebecca Foulger Source NHS GMS was added to ADAR.
Early onset or syndromic epilepsy v1.190 ACOX1 Rebecca Foulger Source NHS GMS was added to ACOX1.
Early onset or syndromic epilepsy v1.190 ABAT Rebecca Foulger Source NHS GMS was added to ABAT.
Early onset or syndromic epilepsy v1.190 ZEB2 Rebecca Foulger Source NHS GMS was added to ZEB2.
Early onset or syndromic epilepsy v1.190 WWOX Rebecca Foulger Source NHS GMS was added to WWOX.
Early onset or syndromic epilepsy v1.190 WDR45B Rebecca Foulger Source NHS GMS was added to WDR45B.
Early onset or syndromic epilepsy v1.190 WDR45 Rebecca Foulger Source NHS GMS was added to WDR45.
Early onset or syndromic epilepsy v1.190 UBE3A Rebecca Foulger Source NHS GMS was added to UBE3A.
Early onset or syndromic epilepsy v1.190 UBE2A Rebecca Foulger Source NHS GMS was added to UBE2A.
Early onset or syndromic epilepsy v1.190 TRPM6 Rebecca Foulger Source NHS GMS was added to TRPM6.
Early onset or syndromic epilepsy v1.190 TRAK1 Rebecca Foulger Source NHS GMS was added to TRAK1.
Early onset or syndromic epilepsy v1.190 TPP1 Rebecca Foulger Source NHS GMS was added to TPP1.
Early onset or syndromic epilepsy v1.190 TCF4 Rebecca Foulger Source NHS GMS was added to TCF4.
Early onset or syndromic epilepsy v1.190 TBC1D24 Rebecca Foulger Source NHS GMS was added to TBC1D24.
Early onset or syndromic epilepsy v1.190 SZT2 Rebecca Foulger Source NHS GMS was added to SZT2.
Early onset or syndromic epilepsy v1.190 SYNJ1 Rebecca Foulger Source NHS GMS was added to SYNJ1.
Early onset or syndromic epilepsy v1.190 SYNGAP1 Rebecca Foulger Source NHS GMS was added to SYNGAP1.
Early onset or syndromic epilepsy v1.190 SUOX Rebecca Foulger Source NHS GMS was added to SUOX.
Early onset or syndromic epilepsy v1.190 STXBP1 Rebecca Foulger Source NHS GMS was added to STXBP1.
Early onset or syndromic epilepsy v1.190 STX1B Rebecca Foulger Source NHS GMS was added to STX1B.
Early onset or syndromic epilepsy v1.190 STRADA Rebecca Foulger Source NHS GMS was added to STRADA.
Early onset or syndromic epilepsy v1.190 SPTAN1 Rebecca Foulger Source NHS GMS was added to SPTAN1.
Early onset or syndromic epilepsy v1.190 SLC9A6 Rebecca Foulger Source NHS GMS was added to SLC9A6.
Early onset or syndromic epilepsy v1.190 SLC6A19 Rebecca Foulger Source NHS GMS was added to SLC6A19.
Early onset or syndromic epilepsy v1.190 SLC6A1 Rebecca Foulger Source NHS GMS was added to SLC6A1.
Early onset or syndromic epilepsy v1.190 SLC35A2 Rebecca Foulger Source NHS GMS was added to SLC35A2.
Early onset or syndromic epilepsy v1.190 SLC2A1 Rebecca Foulger Source NHS GMS was added to SLC2A1.
Early onset or syndromic epilepsy v1.190 SLC25A22 Rebecca Foulger Source NHS GMS was added to SLC25A22.
Early onset or syndromic epilepsy v1.190 SLC25A1 Rebecca Foulger Source NHS GMS was added to SLC25A1.
Early onset or syndromic epilepsy v1.190 SLC1A2 Rebecca Foulger Source NHS GMS was added to SLC1A2.
Early onset or syndromic epilepsy v1.190 SLC16A2 Rebecca Foulger Source NHS GMS was added to SLC16A2.
Early onset or syndromic epilepsy v1.190 SLC13A5 Rebecca Foulger Source NHS GMS was added to SLC13A5.
Early onset or syndromic epilepsy v1.190 SLC12A5 Rebecca Foulger Source NHS GMS was added to SLC12A5.
Early onset or syndromic epilepsy v1.190 SIK1 Rebecca Foulger Source NHS GMS was added to SIK1.
Early onset or syndromic epilepsy v1.190 SETD5 Rebecca Foulger Source NHS GMS was added to SETD5.
Early onset or syndromic epilepsy v1.190 SCN9A Rebecca Foulger Source NHS GMS was added to SCN9A.
Early onset or syndromic epilepsy v1.190 SCN8A Rebecca Foulger Source NHS GMS was added to SCN8A.
Early onset or syndromic epilepsy v1.190 SCN2A Rebecca Foulger Source NHS GMS was added to SCN2A.
Early onset or syndromic epilepsy v1.190 SCN1B Rebecca Foulger Source NHS GMS was added to SCN1B.
Early onset or syndromic epilepsy v1.190 SCN1A Rebecca Foulger Source NHS GMS was added to SCN1A.
Early onset or syndromic epilepsy v1.190 SCARB2 Rebecca Foulger Source NHS GMS was added to SCARB2.
Early onset or syndromic epilepsy v1.190 RANBP2 Rebecca Foulger Source NHS GMS was added to RANBP2.
Early onset or syndromic epilepsy v1.190 QARS Rebecca Foulger Source NHS GMS was added to QARS.
Early onset or syndromic epilepsy v1.190 PURA Rebecca Foulger Source NHS GMS was added to PURA.
Early onset or syndromic epilepsy v1.190 PRRT2 Rebecca Foulger Source NHS GMS was added to PRRT2.
Early onset or syndromic epilepsy v1.190 PRODH Rebecca Foulger Source NHS GMS was added to PRODH.
Early onset or syndromic epilepsy v1.190 POLG Rebecca Foulger Source NHS GMS was added to POLG.
Early onset or syndromic epilepsy v1.190 PNPO Rebecca Foulger Source NHS GMS was added to PNPO.
Early onset or syndromic epilepsy v1.190 PNKP Rebecca Foulger Source NHS GMS was added to PNKP.
Early onset or syndromic epilepsy v1.190 PLPBP Rebecca Foulger Source NHS GMS was added to PLPBP.
Early onset or syndromic epilepsy v1.190 PLCB1 Rebecca Foulger Source NHS GMS was added to PLCB1.
Early onset or syndromic epilepsy v1.190 PIGT Rebecca Foulger Source NHS GMS was added to PIGT.
Early onset or syndromic epilepsy v1.190 PIGN Rebecca Foulger Source NHS GMS was added to PIGN.
Early onset or syndromic epilepsy v1.190 PIGA Rebecca Foulger Source NHS GMS was added to PIGA.
Early onset or syndromic epilepsy v1.190 PCDH19 Rebecca Foulger Source NHS GMS was added to PCDH19.
Early onset or syndromic epilepsy v1.190 NEXMIF Rebecca Foulger Source NHS GMS was added to NEXMIF.
Early onset or syndromic epilepsy v1.190 NACC1 Rebecca Foulger Source NHS GMS was added to NACC1.
Early onset or syndromic epilepsy v1.190 MTOR Rebecca Foulger Source NHS GMS was added to MTOR.
Early onset or syndromic epilepsy v1.190 MOGS Rebecca Foulger Source NHS GMS was added to MOGS.
Early onset or syndromic epilepsy v1.190 MFF Rebecca Foulger Source NHS GMS was added to MFF.
Early onset or syndromic epilepsy v1.190 MEF2C Rebecca Foulger Source NHS GMS was added to MEF2C.
Early onset or syndromic epilepsy v1.190 MECP2 Rebecca Foulger Source NHS GMS was added to MECP2.
Early onset or syndromic epilepsy v1.190 MDH2 Rebecca Foulger Source NHS GMS was added to MDH2.
Early onset or syndromic epilepsy v1.190 MBOAT7 Rebecca Foulger Source NHS GMS was added to MBOAT7.
Early onset or syndromic epilepsy v1.190 MBD5 Rebecca Foulger Source NHS GMS was added to MBD5.
Early onset or syndromic epilepsy v1.190 LGI1 Rebecca Foulger Source NHS GMS was added to LGI1.
Early onset or syndromic epilepsy v1.190 KIF1BP Rebecca Foulger Source NHS GMS was added to KIF1BP.
Early onset or syndromic epilepsy v1.190 KCTD7 Rebecca Foulger Source NHS GMS was added to KCTD7.
Early onset or syndromic epilepsy v1.190 KCNT1 Rebecca Foulger Source NHS GMS was added to KCNT1.
Early onset or syndromic epilepsy v1.190 KCNQ3 Rebecca Foulger Source NHS GMS was added to KCNQ3.
Early onset or syndromic epilepsy v1.190 KCNQ2 Rebecca Foulger Source NHS GMS was added to KCNQ2.
Early onset or syndromic epilepsy v1.190 KCNJ10 Rebecca Foulger Source NHS GMS was added to KCNJ10.
Early onset or syndromic epilepsy v1.190 KCNC1 Rebecca Foulger Source NHS GMS was added to KCNC1.
Early onset or syndromic epilepsy v1.190 KCNB1 Rebecca Foulger Source NHS GMS was added to KCNB1.
Early onset or syndromic epilepsy v1.190 KCNA2 Rebecca Foulger Source NHS GMS was added to KCNA2.
Early onset or syndromic epilepsy v1.190 ITPA Rebecca Foulger Source NHS GMS was added to ITPA.
Early onset or syndromic epilepsy v1.190 IQSEC2 Rebecca Foulger Source NHS GMS was added to IQSEC2.
Early onset or syndromic epilepsy v1.190 IER3IP1 Rebecca Foulger Source NHS GMS was added to IER3IP1.
Early onset or syndromic epilepsy v1.190 IDH2 Rebecca Foulger Source NHS GMS was added to IDH2.
Early onset or syndromic epilepsy v1.190 HTRA2 Rebecca Foulger Source NHS GMS was added to HTRA2.
Early onset or syndromic epilepsy v1.190 HNRNPU Rebecca Foulger Source NHS GMS was added to HNRNPU.
Early onset or syndromic epilepsy v1.190 HNRNPH2 Rebecca Foulger Source NHS GMS was added to HNRNPH2.
Early onset or syndromic epilepsy v1.190 HMGCL Rebecca Foulger Source NHS GMS was added to HMGCL.
Early onset or syndromic epilepsy v1.190 HECW2 Rebecca Foulger Source NHS GMS was added to HECW2.
Early onset or syndromic epilepsy v1.190 HCN1 Rebecca Foulger Source NHS GMS was added to HCN1.
Early onset or syndromic epilepsy v1.190 GSS Rebecca Foulger Source NHS GMS was added to GSS.
Early onset or syndromic epilepsy v1.190 GRIN2B Rebecca Foulger Source NHS GMS was added to GRIN2B.
Early onset or syndromic epilepsy v1.190 GRIN2A Rebecca Foulger Source NHS GMS was added to GRIN2A.
Early onset or syndromic epilepsy v1.190 GRIN1 Rebecca Foulger Source NHS GMS was added to GRIN1.
Early onset or syndromic epilepsy v1.190 GPAA1 Rebecca Foulger Source NHS GMS was added to GPAA1.
Early onset or syndromic epilepsy v1.190 GNAO1 Rebecca Foulger Source NHS GMS was added to GNAO1.
Early onset or syndromic epilepsy v1.190 GLYCTK Rebecca Foulger Source NHS GMS was added to GLYCTK.
Early onset or syndromic epilepsy v1.190 GABRG2 Rebecca Foulger Source NHS GMS was added to GABRG2.
Early onset or syndromic epilepsy v1.190 GABRB3 Rebecca Foulger Source NHS GMS was added to GABRB3.
Early onset or syndromic epilepsy v1.190 GABRA1 Rebecca Foulger Source NHS GMS was added to GABRA1.
Early onset or syndromic epilepsy v1.190 GABBR2 Rebecca Foulger Source NHS GMS was added to GABBR2.
Early onset or syndromic epilepsy v1.190 FOXG1 Rebecca Foulger Source NHS GMS was added to FOXG1.
Early onset or syndromic epilepsy v1.190 EPM2A Rebecca Foulger Source NHS GMS was added to EPM2A.
Early onset or syndromic epilepsy v1.190 EPG5 Rebecca Foulger Source NHS GMS was added to EPG5.
Early onset or syndromic epilepsy v1.190 EML1 Rebecca Foulger Source NHS GMS was added to EML1.
Early onset or syndromic epilepsy v1.190 EHMT1 Rebecca Foulger Source NHS GMS was added to EHMT1.
Early onset or syndromic epilepsy v1.190 DYRK1A Rebecca Foulger Source NHS GMS was added to DYRK1A.
Early onset or syndromic epilepsy v1.190 DPYD Rebecca Foulger Source NHS GMS was added to DPYD.
Early onset or syndromic epilepsy v1.190 DOCK7 Rebecca Foulger Source NHS GMS was added to DOCK7.
Early onset or syndromic epilepsy v1.190 DNM1 Rebecca Foulger Source NHS GMS was added to DNM1.
Early onset or syndromic epilepsy v1.190 DIAPH1 Rebecca Foulger Source NHS GMS was added to DIAPH1.
Early onset or syndromic epilepsy v1.190 DEPDC5 Rebecca Foulger Source NHS GMS was added to DEPDC5.
Early onset or syndromic epilepsy v1.190 CYFIP2 Rebecca Foulger Source NHS GMS was added to CYFIP2.
Early onset or syndromic epilepsy v1.190 CPA6 Rebecca Foulger Source NHS GMS was added to CPA6.
Early onset or syndromic epilepsy v1.190 CNTNAP2 Rebecca Foulger Source NHS GMS was added to CNTNAP2.
Early onset or syndromic epilepsy v1.190 CNKSR2 Rebecca Foulger Source NHS GMS was added to CNKSR2.
Early onset or syndromic epilepsy v1.190 CLTC Rebecca Foulger Source NHS GMS was added to CLTC.
Early onset or syndromic epilepsy v1.190 CLN8 Rebecca Foulger Source NHS GMS was added to CLN8.
Early onset or syndromic epilepsy v1.190 CIC Rebecca Foulger Source NHS GMS was added to CIC.
Early onset or syndromic epilepsy v1.190 CHRNB2 Rebecca Foulger Source NHS GMS was added to CHRNB2.
Early onset or syndromic epilepsy v1.190 CHRNA4 Rebecca Foulger Source NHS GMS was added to CHRNA4.
Early onset or syndromic epilepsy v1.190 CHRNA2 Rebecca Foulger Source NHS GMS was added to CHRNA2.
Early onset or syndromic epilepsy v1.190 CHD2 Rebecca Foulger Source NHS GMS was added to CHD2.
Early onset or syndromic epilepsy v1.190 CDKL5 Rebecca Foulger Source NHS GMS was added to CDKL5.
Early onset or syndromic epilepsy v1.190 CACNA1D Rebecca Foulger Source NHS GMS was added to CACNA1D.
Early onset or syndromic epilepsy v1.190 BSCL2 Rebecca Foulger Source NHS GMS was added to BSCL2.
Early onset or syndromic epilepsy v1.190 BRAT1 Rebecca Foulger Source NHS GMS was added to BRAT1.
Early onset or syndromic epilepsy v1.190 ATRX Rebecca Foulger Source NHS GMS was added to ATRX.
Early onset or syndromic epilepsy v1.190 ATP6V0A2 Rebecca Foulger Source NHS GMS was added to ATP6V0A2.
Early onset or syndromic epilepsy v1.190 ATP1A3 Rebecca Foulger Source NHS GMS was added to ATP1A3.
Early onset or syndromic epilepsy v1.190 ARX Rebecca Foulger Source NHS GMS was added to ARX.
Early onset or syndromic epilepsy v1.190 ARHGEF9 Rebecca Foulger Source NHS GMS was added to ARHGEF9.
Early onset or syndromic epilepsy v1.190 ALG13 Rebecca Foulger Source NHS GMS was added to ALG13.
Early onset or syndromic epilepsy v1.190 ALG11 Rebecca Foulger Source NHS GMS was added to ALG11.
Early onset or syndromic epilepsy v1.190 ALDH7A1 Rebecca Foulger Source NHS GMS was added to ALDH7A1.
Early onset or syndromic epilepsy v1.190 ADSL Rebecca Foulger Source NHS GMS was added to ADSL.
Early onset or syndromic epilepsy v1.190 AARS Rebecca Foulger Source NHS GMS was added to AARS.
Early onset or syndromic epilepsy v1.189 ZIC2 Rebecca Foulger reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TGIF1 Rebecca Foulger reviewed gene: TGIF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 STIL Rebecca Foulger reviewed gene: STIL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC25A19 Rebecca Foulger reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PTCH1 Rebecca Foulger reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PRDM8 Rebecca Foulger reviewed gene: PRDM8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 LMNB2 Rebecca Foulger reviewed gene: LMNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GUF1 Rebecca Foulger reviewed gene: GUF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GABRB1 Rebecca Foulger reviewed gene: GABRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CUL4B Rebecca Foulger edited their review of gene: CUL4B: Added comment: This gene was part of an initial gene list 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 CTSF Rebecca Foulger reviewed gene: CTSF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CERS1 Rebecca Foulger reviewed gene: CERS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ADRA2B Rebecca Foulger reviewed gene: ADRA2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TUBA3E Rebecca Foulger reviewed gene: TUBA3E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC6A5 Rebecca Foulger reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SHH Rebecca Foulger reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SEC24D Rebecca Foulger reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SCN2B Rebecca Foulger reviewed gene: SCN2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RYR3 Rebecca Foulger reviewed gene: RYR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RUBCN Rebecca Foulger reviewed gene: RUBCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PSMB8 Rebecca Foulger reviewed gene: PSMB8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PRICKLE2 Rebecca Foulger reviewed gene: PRICKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PCDHB4 Rebecca Foulger reviewed gene: PCDHB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NRAS Rebecca Foulger reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NID1 Rebecca Foulger reviewed gene: NID1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFA11 Rebecca Foulger reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MT-TL1 Rebecca Foulger reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MATN4 Rebecca Foulger reviewed gene: MATN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MAPK10 Rebecca Foulger reviewed gene: MAPK10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KAT5 Rebecca Foulger reviewed gene: KAT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 INO80 Rebecca Foulger reviewed gene: INO80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 H3F3B Rebecca Foulger reviewed gene: H3F3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 H3F3A Rebecca Foulger reviewed gene: H3F3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GLRB Rebecca Foulger reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GCSH Rebecca Foulger reviewed gene: GCSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GATM Rebecca Foulger reviewed gene: GATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GATAD2B Rebecca Foulger reviewed gene: GATAD2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GAL Rebecca Foulger reviewed gene: GAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GABRD Rebecca Foulger reviewed gene: GABRD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FTL Rebecca Foulger reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FIG4 Rebecca Foulger reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 DMBX1 Rebecca Foulger reviewed gene: DMBX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CYP27A1 Rebecca Foulger edited their review of gene: CYP27A1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 CSNK1G1 Rebecca Foulger reviewed gene: CSNK1G1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CRH Rebecca Foulger reviewed gene: CRH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CNTN2 Rebecca Foulger reviewed gene: CNTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CLN6 Rebecca Foulger reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CLN5 Rebecca Foulger reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CLCN2 Rebecca Foulger reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CBL Rebecca Foulger reviewed gene: CBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CASR Rebecca Foulger reviewed gene: CASR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CAMK2G Rebecca Foulger reviewed gene: CAMK2G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CACNB4 Rebecca Foulger reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ASAH1 Rebecca Foulger edited their review of gene: ASAH1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 ALG2 Rebecca Foulger reviewed gene: ALG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALG12 Rebecca Foulger reviewed gene: ALG12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ADGRV1 Rebecca Foulger reviewed gene: ADGRV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 AARS2 Rebecca Foulger reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 VLDLR Rebecca Foulger reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 UFC1 Rebecca Foulger reviewed gene: UFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TXNRD1 Rebecca Foulger reviewed gene: TXNRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TUBB Rebecca Foulger edited their review of gene: TUBB: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TUBA8 Rebecca Foulger edited their review of gene: TUBA8: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TSFM Rebecca Foulger edited their review of gene: TSFM: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TSEN34 Rebecca Foulger edited their review of gene: TSEN34: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TSEN15 Rebecca Foulger edited their review of gene: TSEN15: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TRIP13 Rebecca Foulger edited their review of gene: TRIP13: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TRAPPC6B Rebecca Foulger edited their review of gene: TRAPPC6B: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TRAPPC12 Rebecca Foulger edited their review of gene: TRAPPC12: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TRAF7 Rebecca Foulger edited their review of gene: TRAF7: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TNK2 Rebecca Foulger edited their review of gene: TNK2: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TIMM50 Rebecca Foulger edited their review of gene: TIMM50: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TFE3 Rebecca Foulger reviewed gene: TFE3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TELO2 Rebecca Foulger reviewed gene: TELO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TBC1D20 Rebecca Foulger edited their review of gene: TBC1D20: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 SUCLG1 Rebecca Foulger edited their review of gene: SUCLG1: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 ST3GAL3 Rebecca Foulger reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SRPX2 Rebecca Foulger reviewed gene: SRPX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SPR Rebecca Foulger reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SNIP1 Rebecca Foulger reviewed gene: SNIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SMC1A Rebecca Foulger edited their review of gene: SMC1A: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 SLC45A1 Rebecca Foulger reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC35A1 Rebecca Foulger edited their review of gene: SLC35A1: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 SIX3 Rebecca Foulger reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SETD1B Rebecca Foulger reviewed gene: SETD1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SDHA Rebecca Foulger reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RYR2 Rebecca Foulger reviewed gene: RYR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RUSC2 Rebecca Foulger reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RRM2B Rebecca Foulger edited their review of gene: RRM2B: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 RPIA Rebecca Foulger reviewed gene: RPIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RNU4ATAC Rebecca Foulger reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RAB3GAP2 Rebecca Foulger reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RAB3GAP1 Rebecca Foulger reviewed gene: RAB3GAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PTF1A Rebecca Foulger edited their review of gene: PTF1A: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 PSPH Rebecca Foulger reviewed gene: PSPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PSAT1 Rebecca Foulger reviewed gene: PSAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 POMT2 Rebecca Foulger reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PIGQ Rebecca Foulger reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PIGH Rebecca Foulger edited their review of gene: PIGH: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 PIGC Rebecca Foulger edited their review of gene: PIGC: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 PEX5 Rebecca Foulger edited their review of gene: PEX5: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 PDSS2 Rebecca Foulger reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PCLO Rebecca Foulger reviewed gene: PCLO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 OTX2 Rebecca Foulger reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NUBPL Rebecca Foulger reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NPRL2 Rebecca Foulger edited their review of gene: NPRL2: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 NEDD4L Rebecca Foulger reviewed gene: NEDD4L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NECAP1 Rebecca Foulger edited their review of gene: NECAP1: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 NDUFS7 Rebecca Foulger reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFS6 Rebecca Foulger reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFS2 Rebecca Foulger reviewed gene: NDUFS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFS1 Rebecca Foulger reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFAF4 Rebecca Foulger reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFAF3 Rebecca Foulger reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFA2 Rebecca Foulger reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDP Rebecca Foulger reviewed gene: NDP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MED17 Rebecca Foulger reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MAST1 Rebecca Foulger edited their review of gene: MAST1: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Red. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 MANBA Rebecca Foulger reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 LNPK Rebecca Foulger reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 LIPT2 Rebecca Foulger reviewed gene: LIPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 LARGE1 Rebecca Foulger reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KPTN Rebecca Foulger edited their review of gene: KPTN: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 KIAA1109 Rebecca Foulger edited their review of gene: KIAA1109: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 KCNMA1 Rebecca Foulger edited their review of gene: KCNMA1: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 ISPD Rebecca Foulger reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HSPD1 Rebecca Foulger reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HPRT1 Rebecca Foulger reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HOXA1 Rebecca Foulger edited their review of gene: HOXA1: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Red. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 HEXB Rebecca Foulger edited their review of gene: HEXB: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 HCCS Rebecca Foulger reviewed gene: HCCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GTPBP3 Rebecca Foulger reviewed gene: GTPBP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GLRA1 Rebecca Foulger reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GLI3 Rebecca Foulger reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FOXRED1 Rebecca Foulger reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FKRP Rebecca Foulger reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FASTKD2 Rebecca Foulger reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 EIF2B3 Rebecca Foulger edited their review of gene: EIF2B3: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 EIF2B1 Rebecca Foulger edited their review of gene: EIF2B1: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 EFHC1 Rebecca Foulger edited their review of gene: EFHC1: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DPM2 Rebecca Foulger edited their review of gene: DPM2: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DOLK Rebecca Foulger edited their review of gene: DOLK: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DNAJC6 Rebecca Foulger reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 DHCR24 Rebecca Foulger edited their review of gene: DHCR24: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DBT Rebecca Foulger edited their review of gene: DBT: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 CUX2 Rebecca Foulger edited their review of gene: CUX2: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 CSNK2B Rebecca Foulger edited their review of gene: CSNK2B: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 COX15 Rebecca Foulger reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 COX10 Rebecca Foulger reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 COQ6 Rebecca Foulger reviewed gene: COQ6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 COG8 Rebecca Foulger reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 COG6 Rebecca Foulger reviewed gene: COG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 COG4 Rebecca Foulger reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CNPY3 Rebecca Foulger edited their review of gene: CNPY3: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 CCND2 Rebecca Foulger reviewed gene: CCND2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CCDC88C Rebecca Foulger reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CCDC88A Rebecca Foulger reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CACNA2D2 Rebecca Foulger reviewed gene: CACNA2D2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CACNA1H Rebecca Foulger reviewed gene: CACNA1H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ATP6AP2 Rebecca Foulger reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ATP5A1 Rebecca Foulger reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ATP1A2 Rebecca Foulger edited their review of gene: ATP1A2: Added comment: 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: Alison Callaway and John Taylor. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 ADAT3 Rebecca Foulger reviewed gene: ADAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ZBTB18 Rebecca Foulger reviewed gene: ZBTB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 YWHAG Rebecca Foulger reviewed gene: YWHAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 WDR73 Rebecca Foulger reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 WDR62 Rebecca Foulger reviewed gene: WDR62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 WASF1 Rebecca Foulger reviewed gene: WASF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 VARS Rebecca Foulger reviewed gene: VARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 UNC80 Rebecca Foulger reviewed gene: UNC80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 UFM1 Rebecca Foulger reviewed gene: UFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 UBA5 Rebecca Foulger reviewed gene: UBA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TUBG1 Rebecca Foulger reviewed gene: TUBG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TUBB4A Rebecca Foulger reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TUBB3 Rebecca Foulger edited their review of gene: TUBB3: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TUBB2B Rebecca Foulger edited their review of gene: TUBB2B: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TUBB2A Rebecca Foulger edited their review of gene: TUBB2A: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TUBA1A Rebecca Foulger edited their review of gene: TUBA1A: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TSEN54 Rebecca Foulger edited their review of gene: TSEN54: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TSEN2 Rebecca Foulger edited their review of gene: TSEN2: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TSC2 Rebecca Foulger reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TSC1 Rebecca Foulger reviewed gene: TSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TRIM8 Rebecca Foulger edited their review of gene: TRIM8: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TREX1 Rebecca Foulger edited their review of gene: TREX1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TMEM70 Rebecca Foulger edited their review of gene: TMEM70: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TBL1XR1 Rebecca Foulger edited their review of gene: TBL1XR1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TBCK Rebecca Foulger edited their review of gene: TBCK: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TBCD Rebecca Foulger edited their review of gene: TBCD: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 TANGO2 Rebecca Foulger reviewed gene: TANGO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SYN1 Rebecca Foulger reviewed gene: SYN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SURF1 Rebecca Foulger edited their review of gene: SURF1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 SUCLA2 Rebecca Foulger edited their review of gene: SUCLA2: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 STAMBP Rebecca Foulger reviewed gene: STAMBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 STAG1 Rebecca Foulger reviewed gene: STAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ST3GAL5 Rebecca Foulger reviewed gene: ST3GAL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SNORD118 Rebecca Foulger reviewed gene: SNORD118: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SMS Rebecca Foulger reviewed gene: SMS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SMARCA2 Rebecca Foulger reviewed gene: SMARCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC6A8 Rebecca Foulger reviewed gene: SLC6A8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC25A12 Rebecca Foulger edited their review of gene: SLC25A12: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 SLC1A4 Rebecca Foulger reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SETBP1 Rebecca Foulger reviewed gene: SETBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SEPSECS Rebecca Foulger reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SCO2 Rebecca Foulger reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SCO1 Rebecca Foulger reviewed gene: SCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SCN3A Rebecca Foulger reviewed gene: SCN3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SAMHD1 Rebecca Foulger edited their review of gene: SAMHD1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 RTTN Rebecca Foulger reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RTN4IP1 Rebecca Foulger reviewed gene: RTN4IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RORB Rebecca Foulger reviewed gene: RORB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RORA Rebecca Foulger reviewed gene: RORA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ROGDI Rebecca Foulger reviewed gene: ROGDI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RNASET2 Rebecca Foulger reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RNASEH2C Rebecca Foulger edited their review of gene: RNASEH2C: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 RNASEH2B Rebecca Foulger edited their review of gene: RNASEH2B: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 RNASEH2A Rebecca Foulger edited their review of gene: RNASEH2A: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 RMND1 Rebecca Foulger reviewed gene: RMND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RHOBTB2 Rebecca Foulger reviewed gene: RHOBTB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RFT1 Rebecca Foulger reviewed gene: RFT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RELN Rebecca Foulger edited their review of gene: RELN: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 RARS2 Rebecca Foulger reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RALA Rebecca Foulger reviewed gene: RALA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RAB18 Rebecca Foulger reviewed gene: RAB18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RAB11B Rebecca Foulger reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 QDPR Rebecca Foulger reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PTS Rebecca Foulger reviewed gene: PTS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PTPN23 Rebecca Foulger reviewed gene: PTPN23: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PSAP Rebecca Foulger reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PRMT7 Rebecca Foulger reviewed gene: PRMT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PRICKLE1 Rebecca Foulger edited their review of gene: PRICKLE1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 PPT1 Rebecca Foulger reviewed gene: PPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PPP3CA Rebecca Foulger reviewed gene: PPP3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 POMT1 Rebecca Foulger reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 POMGNT1 Rebecca Foulger reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PMM2 Rebecca Foulger reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PLAA Rebecca Foulger reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PIK3R2 Rebecca Foulger reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PIK3CA Rebecca Foulger reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PIGW Rebecca Foulger reviewed gene: PIGW: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PIGO Rebecca Foulger reviewed gene: PIGO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PIGG Rebecca Foulger reviewed gene: PIGG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PHGDH Rebecca Foulger reviewed gene: PHGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PHACTR1 Rebecca Foulger reviewed gene: PHACTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX7 Rebecca Foulger reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX6 Rebecca Foulger reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX3 Rebecca Foulger reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX2 Rebecca Foulger reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX19 Rebecca Foulger reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX13 Rebecca Foulger reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX12 Rebecca Foulger reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX10 Rebecca Foulger reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PEX1 Rebecca Foulger reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PET100 Rebecca Foulger edited their review of gene: PET100: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 PDHX Rebecca Foulger reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PDHA1 Rebecca Foulger reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PCDH12 Rebecca Foulger reviewed gene: PCDH12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PCCB Rebecca Foulger reviewed gene: PCCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PCCA Rebecca Foulger reviewed gene: PCCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PAH Rebecca Foulger reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PAFAH1B1 Rebecca Foulger reviewed gene: PAFAH1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PACS2 Rebecca Foulger reviewed gene: PACS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PACS1 Rebecca Foulger reviewed gene: PACS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 OTUD6B Rebecca Foulger reviewed gene: OTUD6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 OPHN1 Rebecca Foulger reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 OCLN Rebecca Foulger reviewed gene: OCLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NTRK2 Rebecca Foulger edited their review of gene: NTRK2: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 NSDHL Rebecca Foulger reviewed gene: NSDHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NSD1 Rebecca Foulger reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NRXN1 Rebecca Foulger reviewed gene: NRXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NPRL3 Rebecca Foulger reviewed gene: NPRL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NHLRC1 Rebecca Foulger reviewed gene: NHLRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NGLY1 Rebecca Foulger reviewed gene: NGLY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFV1 Rebecca Foulger reviewed gene: NDUFV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFS8 Rebecca Foulger reviewed gene: NDUFS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFS4 Rebecca Foulger reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFAF5 Rebecca Foulger reviewed gene: NDUFAF5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFAF2 Rebecca Foulger reviewed gene: NDUFAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFA10 Rebecca Foulger reviewed gene: NDUFA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDUFA1 Rebecca Foulger reviewed gene: NDUFA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NDE1 Rebecca Foulger reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NARS2 Rebecca Foulger reviewed gene: NARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NAGA Rebecca Foulger reviewed gene: NAGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MTR Rebecca Foulger reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MTHFR Rebecca Foulger reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MPDU1 Rebecca Foulger edited their review of gene: MPDU1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 MOCS2 Rebecca Foulger reviewed gene: MOCS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MOCS1 Rebecca Foulger reviewed gene: MOCS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MMADHC Rebecca Foulger edited their review of gene: MMADHC: Added comment: 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. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 MMACHC Rebecca Foulger edited their review of gene: MMACHC: Added comment: 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. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 MLC1 Rebecca Foulger edited their review of gene: MLC1: Added comment: 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. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 MFSD8 Rebecca Foulger reviewed gene: MFSD8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MED12 Rebecca Foulger reviewed gene: MED12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MAP2K2 Rebecca Foulger reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MAP2K1 Rebecca Foulger reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MAGI2 Rebecca Foulger reviewed gene: MAGI2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MAF Rebecca Foulger reviewed gene: MAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MACF1 Rebecca Foulger reviewed gene: MACF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 LYST Rebecca Foulger reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 LIAS Rebecca Foulger reviewed gene: LIAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KRAS Rebecca Foulger reviewed gene: KRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KIF5C Rebecca Foulger reviewed gene: KIF5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KIF2A Rebecca Foulger edited their review of gene: KIF2A: Added comment: 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. Suggested gene rating: Green. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 KIF1A Rebecca Foulger reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KCTD3 Rebecca Foulger reviewed gene: KCTD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KCNQ5 Rebecca Foulger reviewed gene: KCNQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KCNK4 Rebecca Foulger reviewed gene: KCNK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KCNJ11 Rebecca Foulger reviewed gene: KCNJ11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KCNA1 Rebecca Foulger reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KARS Rebecca Foulger reviewed gene: KARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 IRF2BPL Rebecca Foulger reviewed gene: IRF2BPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 IKBKG Rebecca Foulger reviewed gene: IKBKG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 IFIH1 Rebecca Foulger edited their review of gene: IFIH1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 HSD17B4 Rebecca Foulger reviewed gene: HSD17B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HRAS Rebecca Foulger reviewed gene: HRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HLCS Rebecca Foulger reviewed gene: HLCS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HEXA Rebecca Foulger reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HEPACAM Rebecca Foulger reviewed gene: HEPACAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HCN2 Rebecca Foulger edited their review of gene: HCN2: Added comment: 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. Suggested gene rating: Amber. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 HCFC1 Rebecca Foulger reviewed gene: HCFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HAX1 Rebecca Foulger reviewed gene: HAX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HACE1 Rebecca Foulger reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GTPBP2 Rebecca Foulger reviewed gene: GTPBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GRIN2D Rebecca Foulger reviewed gene: GRIN2D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GRIA4 Rebecca Foulger reviewed gene: GRIA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GPHN Rebecca Foulger reviewed gene: GPHN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GOSR2 Rebecca Foulger reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GNB5 Rebecca Foulger reviewed gene: GNB5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GNB1 Rebecca Foulger reviewed gene: GNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GNAQ Rebecca Foulger reviewed gene: GNAQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GM2A Rebecca Foulger reviewed gene: GM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GLUL Rebecca Foulger reviewed gene: GLUL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GLUD1 Rebecca Foulger reviewed gene: GLUD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GLDC Rebecca Foulger reviewed gene: GLDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GLB1 Rebecca Foulger reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GFM1 Rebecca Foulger reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GFAP Rebecca Foulger reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GCH1 Rebecca Foulger reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GBA Rebecca Foulger reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GAMT Rebecca Foulger reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GALC Rebecca Foulger reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GABRB2 Rebecca Foulger reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FUT8 Rebecca Foulger reviewed gene: FUT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FUCA1 Rebecca Foulger reviewed gene: FUCA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FRRS1L Rebecca Foulger reviewed gene: FRRS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FOLR1 Rebecca Foulger reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FLNA Rebecca Foulger edited their review of gene: FLNA: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 FKTN Rebecca Foulger reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FH Rebecca Foulger reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FGFR3 Rebecca Foulger edited their review of gene: FGFR3: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 FGF12 Rebecca Foulger reviewed gene: FGF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FBXO11 Rebecca Foulger reviewed gene: FBXO11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FBXL4 Rebecca Foulger reviewed gene: FBXL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FARS2 Rebecca Foulger edited their review of gene: FARS2: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 FAR1 Rebecca Foulger reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 EXOSC3 Rebecca Foulger edited their review of gene: EXOSC3: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 ETHE1 Rebecca Foulger edited their review of gene: ETHE1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 EMX2 Rebecca Foulger edited their review of gene: EMX2: Added comment: 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.; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 EIF3F Rebecca Foulger reviewed gene: EIF3F: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 EIF2S3 Rebecca Foulger edited their review of gene: EIF2S3: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 EIF2B5 Rebecca Foulger reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 EIF2B4 Rebecca Foulger edited their review of gene: EIF2B4: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 EIF2B2 Rebecca Foulger edited their review of gene: EIF2B2: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 EFTUD2 Rebecca Foulger reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 EEF1A2 Rebecca Foulger reviewed gene: EEF1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 EARS2 Rebecca Foulger edited their review of gene: EARS2: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DYNC1H1 Rebecca Foulger edited their review of gene: DYNC1H1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DPM1 Rebecca Foulger edited their review of gene: DPM1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DPAGT1 Rebecca Foulger edited their review of gene: DPAGT1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DNM1L Rebecca Foulger edited their review of gene: DNM1L: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DHX30 Rebecca Foulger reviewed gene: DHX30: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 DHDDS Rebecca Foulger edited their review of gene: DHDDS: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DHCR7 Rebecca Foulger edited their review of gene: DHCR7: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DENND5A Rebecca Foulger edited their review of gene: DENND5A: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DEAF1 Rebecca Foulger edited their review of gene: DEAF1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DDX3X Rebecca Foulger edited their review of gene: DDX3X: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DCX Rebecca Foulger reviewed gene: DCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 D2HGDH Rebecca Foulger edited their review of gene: D2HGDH: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 CTSD Rebecca Foulger edited their review of gene: CTSD: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 CSTB Rebecca Foulger reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CREBBP Rebecca Foulger reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 COQ9 Rebecca Foulger reviewed gene: COQ9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 COQ4 Rebecca Foulger reviewed gene: COQ4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 COQ2 Rebecca Foulger reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 COL4A2 Rebecca Foulger reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 COL4A1 Rebecca Foulger reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 COL18A1 Rebecca Foulger reviewed gene: COL18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 COG7 Rebecca Foulger reviewed gene: COG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CNNM2 Rebecca Foulger reviewed gene: CNNM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CLN3 Rebecca Foulger reviewed gene: CLN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CLCN4 Rebecca Foulger edited their review of gene: CLCN4: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 CC2D2A Rebecca Foulger reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CASK Rebecca Foulger reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CAD Rebecca Foulger edited their review of gene: CAD: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 CACNA1G Rebecca Foulger reviewed gene: CACNA1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CACNA1E Rebecca Foulger reviewed gene: CACNA1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CACNA1A Rebecca Foulger edited their review of gene: CACNA1A: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 C12orf57 Rebecca Foulger reviewed gene: C12orf57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 BTD Rebecca Foulger reviewed gene: BTD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 BRAF Rebecca Foulger reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 BOLA3 Rebecca Foulger reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 BCS1L Rebecca Foulger reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 BCKDHB Rebecca Foulger reviewed gene: BCKDHB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 BCKDHA Rebecca Foulger reviewed gene: BCKDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ATP7A Rebecca Foulger reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ATP6V1A Rebecca Foulger reviewed gene: ATP6V1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ATP1A1 Rebecca Foulger reviewed gene: ATP1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ASPA Rebecca Foulger reviewed gene: ASPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ARV1 Rebecca Foulger reviewed gene: ARV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ARID1B Rebecca Foulger reviewed gene: ARID1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ARG1 Rebecca Foulger reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ARFGEF2 Rebecca Foulger reviewed gene: ARFGEF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 AP3B2 Rebecca Foulger reviewed gene: AP3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 AMT Rebecca Foulger reviewed gene: AMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 AMPD2 Rebecca Foulger reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALPL Rebecca Foulger edited their review of gene: ALPL: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 ALG9 Rebecca Foulger reviewed gene: ALG9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALG8 Rebecca Foulger reviewed gene: ALG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALG6 Rebecca Foulger reviewed gene: ALG6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALG3 Rebecca Foulger reviewed gene: ALG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALG1 Rebecca Foulger reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALDH5A1 Rebecca Foulger reviewed gene: ALDH5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 AKT3 Rebecca Foulger reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 AKT1 Rebecca Foulger reviewed gene: AKT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 AIMP1 Rebecca Foulger edited their review of gene: AIMP1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 ADPRHL2 Rebecca Foulger reviewed gene: ADPRHL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ADGRG1 Rebecca Foulger reviewed gene: ADGRG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ADAR Rebecca Foulger reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ACOX1 Rebecca Foulger reviewed gene: ACOX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ABAT Rebecca Foulger reviewed gene: ABAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ZEB2 Rebecca Foulger reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 WWOX Rebecca Foulger reviewed gene: WWOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 WDR45B Rebecca Foulger edited their review of gene: WDR45B: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 WDR45 Rebecca Foulger reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 UBE3A Rebecca Foulger reviewed gene: UBE3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 UBE2A Rebecca Foulger reviewed gene: UBE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TRPM6 Rebecca Foulger reviewed gene: TRPM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TRAK1 Rebecca Foulger reviewed gene: TRAK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TPP1 Rebecca Foulger reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TCF4 Rebecca Foulger reviewed gene: TCF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 TBC1D24 Rebecca Foulger reviewed gene: TBC1D24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SZT2 Rebecca Foulger edited their review of gene: SZT2: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 SYNJ1 Rebecca Foulger edited their review of gene: SYNJ1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 SYNGAP1 Rebecca Foulger reviewed gene: SYNGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SUOX Rebecca Foulger reviewed gene: SUOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 STXBP1 Rebecca Foulger reviewed gene: STXBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 STX1B Rebecca Foulger reviewed gene: STX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 STRADA Rebecca Foulger reviewed gene: STRADA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SPTAN1 Rebecca Foulger reviewed gene: SPTAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC9A6 Rebecca Foulger edited their review of gene: SLC9A6: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 SLC6A19 Rebecca Foulger reviewed gene: SLC6A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC6A1 Rebecca Foulger reviewed gene: SLC6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC35A2 Rebecca Foulger edited their review of gene: SLC35A2: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 SLC2A1 Rebecca Foulger reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC25A22 Rebecca Foulger reviewed gene: SLC25A22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC25A1 Rebecca Foulger reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC1A2 Rebecca Foulger reviewed gene: SLC1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC16A2 Rebecca Foulger reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC13A5 Rebecca Foulger reviewed gene: SLC13A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SLC12A5 Rebecca Foulger reviewed gene: SLC12A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SIK1 Rebecca Foulger reviewed gene: SIK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SETD5 Rebecca Foulger reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SCN9A Rebecca Foulger reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SCN8A Rebecca Foulger reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SCN2A Rebecca Foulger reviewed gene: SCN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SCN1B Rebecca Foulger reviewed gene: SCN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SCN1A Rebecca Foulger reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 SCARB2 Rebecca Foulger reviewed gene: SCARB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 RANBP2 Rebecca Foulger edited their review of gene: RANBP2: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 QARS Rebecca Foulger reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PURA Rebecca Foulger reviewed gene: PURA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PRRT2 Rebecca Foulger reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PRODH Rebecca Foulger reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 POLG Rebecca Foulger reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PNPO Rebecca Foulger reviewed gene: PNPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PNKP Rebecca Foulger reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PLPBP Rebecca Foulger reviewed gene: PLPBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PLCB1 Rebecca Foulger reviewed gene: PLCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PIGT Rebecca Foulger reviewed gene: PIGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PIGN Rebecca Foulger reviewed gene: PIGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PIGA Rebecca Foulger reviewed gene: PIGA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 PCDH19 Rebecca Foulger reviewed gene: PCDH19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 NEXMIF Rebecca Foulger edited their review of gene: NEXMIF: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 NACC1 Rebecca Foulger edited their review of gene: NACC1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 MTOR Rebecca Foulger reviewed gene: MTOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MOGS Rebecca Foulger reviewed gene: MOGS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MFF Rebecca Foulger reviewed gene: MFF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MEF2C Rebecca Foulger reviewed gene: MEF2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MECP2 Rebecca Foulger reviewed gene: MECP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MDH2 Rebecca Foulger reviewed gene: MDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MBOAT7 Rebecca Foulger reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 MBD5 Rebecca Foulger reviewed gene: MBD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 LGI1 Rebecca Foulger reviewed gene: LGI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KIF1BP Rebecca Foulger edited their review of gene: KIF1BP: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 KCTD7 Rebecca Foulger reviewed gene: KCTD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KCNT1 Rebecca Foulger reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KCNQ3 Rebecca Foulger reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KCNQ2 Rebecca Foulger reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KCNJ10 Rebecca Foulger reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KCNC1 Rebecca Foulger reviewed gene: KCNC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KCNB1 Rebecca Foulger reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 KCNA2 Rebecca Foulger reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ITPA Rebecca Foulger reviewed gene: ITPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 IQSEC2 Rebecca Foulger reviewed gene: IQSEC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 IER3IP1 Rebecca Foulger reviewed gene: IER3IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 IDH2 Rebecca Foulger reviewed gene: IDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HTRA2 Rebecca Foulger reviewed gene: HTRA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HNRNPU Rebecca Foulger edited their review of gene: HNRNPU: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 HNRNPH2 Rebecca Foulger reviewed gene: HNRNPH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HMGCL Rebecca Foulger reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HECW2 Rebecca Foulger reviewed gene: HECW2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 HCN1 Rebecca Foulger reviewed gene: HCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GSS Rebecca Foulger reviewed gene: GSS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GRIN2B Rebecca Foulger reviewed gene: GRIN2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GRIN2A Rebecca Foulger reviewed gene: GRIN2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GRIN1 Rebecca Foulger reviewed gene: GRIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GPAA1 Rebecca Foulger reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GNAO1 Rebecca Foulger reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GLYCTK Rebecca Foulger reviewed gene: GLYCTK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GABRG2 Rebecca Foulger reviewed gene: GABRG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GABRB3 Rebecca Foulger reviewed gene: GABRB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GABRA1 Rebecca Foulger reviewed gene: GABRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 GABBR2 Rebecca Foulger reviewed gene: GABBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 FOXG1 Rebecca Foulger reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 EPM2A Rebecca Foulger reviewed gene: EPM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 EPG5 Rebecca Foulger reviewed gene: EPG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 EML1 Rebecca Foulger edited their review of gene: EML1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 EHMT1 Rebecca Foulger reviewed gene: EHMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 DYRK1A Rebecca Foulger reviewed gene: DYRK1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 DPYD Rebecca Foulger reviewed gene: DPYD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 DOCK7 Rebecca Foulger reviewed gene: DOCK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 DNM1 Rebecca Foulger reviewed gene: DNM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 DIAPH1 Rebecca Foulger edited their review of gene: DIAPH1: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 DEPDC5 Rebecca Foulger reviewed gene: DEPDC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CYFIP2 Rebecca Foulger reviewed gene: CYFIP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CPA6 Rebecca Foulger edited their review of gene: CPA6: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 CNTNAP2 Rebecca Foulger reviewed gene: CNTNAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CNKSR2 Rebecca Foulger edited their review of gene: CNKSR2: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 CLTC Rebecca Foulger reviewed gene: CLTC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CLN8 Rebecca Foulger reviewed gene: CLN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CIC Rebecca Foulger reviewed gene: CIC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CHRNB2 Rebecca Foulger reviewed gene: CHRNB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CHRNA4 Rebecca Foulger reviewed gene: CHRNA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CHRNA2 Rebecca Foulger reviewed gene: CHRNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CHD2 Rebecca Foulger reviewed gene: CHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CDKL5 Rebecca Foulger reviewed gene: CDKL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 CACNA1D Rebecca Foulger edited their review of gene: CACNA1D: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 BSCL2 Rebecca Foulger reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 BRAT1 Rebecca Foulger reviewed gene: BRAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ATRX Rebecca Foulger edited their review of gene: ATRX: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.189 ATP6V0A2 Rebecca Foulger reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ATP1A3 Rebecca Foulger reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ARX Rebecca Foulger reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ARHGEF9 Rebecca Foulger reviewed gene: ARHGEF9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALG13 Rebecca Foulger reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALG11 Rebecca Foulger reviewed gene: ALG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ALDH7A1 Rebecca Foulger reviewed gene: ALDH7A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 ADSL Rebecca Foulger reviewed gene: ADSL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.189 AARS Rebecca Foulger reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 ZIC2 Tracy Lester reviewed gene: ZIC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Holoprosencephaly 5, 609637; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TGIF1 Tracy Lester reviewed gene: TGIF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Holoprosencephaly 4, 142946; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 STIL Tracy Lester reviewed gene: STIL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly 7, primary, 612703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SLC25A19 Tracy Lester reviewed gene: SLC25A19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Microcephaly, Amish type, 607196 , Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PTCH1 Tracy Lester reviewed gene: PTCH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Basal cell carcinoma, somatic, 605462 , Basal cell nevus syndrome, 109400 , Holoprosencephaly 7, 610828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 PRDM8 Tracy Lester reviewed gene: PRDM8: Rating: RED; Mode of pathogenicity: ; Publications: 22961547; Phenotypes: ?Epilepsy, progressive myoclonic, 10, 616640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 LMNB2 Tracy Lester reviewed gene: LMNB2: Rating: RED; Mode of pathogenicity: ; Publications: 16826530; Phenotypes: ?Epilepsy, progressive myoclonic, 9, 616540 , {Lipodystrophy, partial, acquired, susceptibility to}, 608709; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GUF1 Tracy Lester reviewed gene: GUF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26486472; Phenotypes: ?Epileptic encephalopathy, early infantile, 40, 617065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GABRB1 Tracy Lester reviewed gene: GABRB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27273810, 26950270 ; Phenotypes: Epileptic encephalopathy, early infantile, 45, 617153; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CUL4B Tracy Lester reviewed gene: CUL4B: Rating: GREEN; Mode of pathogenicity: ; Publications: 22182342, 17236139 ; Phenotypes: Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 CTSF Tracy Lester reviewed gene: CTSF: Rating: AMBER; Mode of pathogenicity: ; Publications: 16508006; Phenotypes: Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CERS1 Tracy Lester reviewed gene: CERS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 19243074; Phenotypes: ?Epilepsy, progressive myoclonic, 8, 616230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ADRA2B Tracy Lester reviewed gene: ADRA2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 11701600; Phenotypes: Epilepsy, myoclonic, familial adult, 2, 607876; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TUBA3E Tracy Lester reviewed gene: TUBA3E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Unkown; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 SLC6A5 Tracy Lester reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 16751771, 16884688 ; Phenotypes: Hyperekplexia 3, 614618 ; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 SHH Tracy Lester reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: ; Publications: 8896572; Phenotypes: Holoprosencephaly 3, 142945 , Microphthalmia with coloboma 5, 611638 , Schizencephaly, 269160 , Single median maxillary central incisor, 147250 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SEC24D Tracy Lester reviewed gene: SEC24D: Rating: RED; Mode of pathogenicity: ; Publications: 25363768; Phenotypes: Cole-Carpenter syndrome 2, 616294 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SCN2B Tracy Lester reviewed gene: SCN2B: Rating: RED; Mode of pathogenicity: ; Publications: 12481039, 19808477 ; Phenotypes: Atrial fibrillation, familial, 14, 615378 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 RYR3 Tracy Lester reviewed gene: RYR3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Unkown; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 RUBCN Tracy Lester reviewed gene: RUBCN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spinocerebellar ataxia 15, 615705 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PSMB8 Tracy Lester reviewed gene: PSMB8: Rating: RED; Mode of pathogenicity: ; Publications: 11669176; Phenotypes: Proteasome-associated autoinflammatory syndrome 1 and digenic forms, 256040 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PRICKLE2 Tracy Lester reviewed gene: PRICKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: 21276947; Phenotypes: Seizures; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 PCDHB4 Tracy Lester reviewed gene: PCDHB4: Rating: RED; Mode of pathogenicity: ; Publications: 22495309; Phenotypes: autism spectrum disorders (ASD) ; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 NRAS Tracy Lester reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Colorectal cancer, somatic, 114500, Epidermal nevus, somatic, 162900, Melanocytic nevus syndrome, congenital, somatic, 137550 , Neurocutaneous melanosis, somatic, 249400 , Noonan syndrome 6, 613224 , ?RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic, 614470 , Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 , Thyroid carcinoma, follicular, somatic, 188470 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 NID1 Tracy Lester reviewed gene: NID1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Unkown; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 NDUFA11 Tracy Lester reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: ; Publications: 18306244; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, 618236 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MT-TL1 Tracy Lester reviewed gene: MT-TL1: Rating: RED; Mode of pathogenicity: ; Publications: 1323207; Phenotypes: Myoclonic epilepsy with ragged-red fibers (MERRF); Mode of inheritance: MITOCHONDRIAL
Early onset or syndromic epilepsy v1.188 MATN4 Tracy Lester reviewed gene: MATN4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MAPK10 Tracy Lester reviewed gene: MAPK10: Rating: RED; Mode of pathogenicity: ; Publications: 16249883, 23329067 ; Phenotypes: epileptic encephalopathy; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 KAT5 Tracy Lester reviewed gene: KAT5: Rating: RED; Mode of pathogenicity: ; Publications: 28213671, 28195569 ; Phenotypes: Smith-Magenis-like syndrome, schizophrenia; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 INO80 Tracy Lester reviewed gene: INO80: Rating: RED; Mode of pathogenicity: ; Publications: 24463507; Phenotypes: schizophrenia ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 H3F3B Tracy Lester reviewed gene: H3F3B: Rating: RED; Mode of pathogenicity: ; Publications: 29529098; Phenotypes: schizophrenia; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 H3F3A Tracy Lester reviewed gene: H3F3A: Rating: RED; Mode of pathogenicity: ; Publications: 28506301; Phenotypes: yet to be assigned ; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 GLRB Tracy Lester reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: 21391991; Phenotypes: Hyperekplexia 2, 614619 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GCSH Tracy Lester reviewed gene: GCSH: Rating: RED; Mode of pathogenicity: ; Publications: 1671321; Phenotypes: ?Glycine encephalopathy, 605899 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GATM Tracy Lester reviewed gene: GATM: Rating: RED; Mode of pathogenicity: ; Publications: 11555793; Phenotypes: Cerebral creatine deficiency syndrome 3, 612718 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GATAD2B Tracy Lester reviewed gene: GATAD2B: Rating: RED; Mode of pathogenicity: ; Publications: 23033978; Phenotypes: Mental retardation 18, 615074 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GAL Tracy Lester reviewed gene: GAL: Rating: AMBER; Mode of pathogenicity: ; Publications: 21716262, 25691535 ; Phenotypes: ?Epilepsy, familial temporal lobe, 8, 616461 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GABRD Tracy Lester reviewed gene: GABRD: Rating: RED; Mode of pathogenicity: ; Publications: 15115768; Phenotypes: {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 , {Epilepsy, idiopathic generalized, 10}, 613060 , {Epilepsy, juvenile myoclonic, susceptibility to}, 613060 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 FTL Tracy Lester reviewed gene: FTL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperferritinemia-cataract syndrome, 600886 , L-ferritin deficiency, dominant and recessive, 615604 , Neurodegeneration with brain iron accumulation 3, 606159 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 FIG4 Tracy Lester reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: 24598713; Phenotypes: Amyotrophic lateral sclerosis 11, 612577, Charcot-Marie-Tooth disease, type 4J, 611228, ?Polymicrogyria, bilateral temporooccipital, 612691, Yunis-Varon syndrome, 216340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DMBX1 Tracy Lester reviewed gene: DMBX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25558065; Phenotypes: global developmental delay, epilepsy and poor weight gain ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CYP27A1 Tracy Lester reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 2019602 , 22336472 ; Phenotypes: Cerebrotendinous xanthomatosis, 213700 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CSNK1G1 Tracy Lester reviewed gene: CSNK1G1: Rating: RED; Mode of pathogenicity: ; Publications: 24463883; Phenotypes: severe early-onset epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CRH Tracy Lester reviewed gene: CRH: Rating: RED; Mode of pathogenicity: ; Publications: 16222669; Phenotypes: Frontal lobe epilepsy; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 CNTN2 Tracy Lester reviewed gene: CNTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23518707; Phenotypes: ?Epilepsy, myoclonic, familial adult, 5, 615400 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CLN6 Tracy Lester reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: 21549341; Phenotypes: Ceroid lipofuscinosis neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal Kufs type adult onset, 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CLN5 Tracy Lester reviewed gene: CLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: 9662406; Phenotypes: Ceroid lipofuscinosis, neuronal, 5, 256731 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CLCN2 Tracy Lester reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628, {Epilepsy, juvenile absence, susceptibility to, 2}, 607628, {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628, Hyperaldosteronism, familial, type II, 605635, Leukoencephalopathy with ataxia, 615651; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CBL Tracy Lester reviewed gene: CBL: Rating: AMBER; Mode of pathogenicity: ; Publications: 7603564; Phenotypes: ?Juvenile myelomonocytic leukemia, 607785, Somatic mutation, Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia, 613563 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CASR Tracy Lester reviewed gene: CASR: Rating: RED; Mode of pathogenicity: ; Publications: 7916660; Phenotypes: {Epilepsy idiopathic generalized susceptibility to, 8}, 612899, Hyperparathyroidis, neonatal, 239200, Hypocalcemia, 601198, Hypocalcemia with Bartter syndrome, 601198, Hypocalciuric hypercalcemia type I, 145980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CAMK2G Tracy Lester reviewed gene: CAMK2G: Rating: AMBER; Mode of pathogenicity: ; Publications: 23033978; Phenotypes: intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CACNB4 Tracy Lester reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: 10762541; Phenotypes: {Epilepsy, idiopathic generalized, susceptibility to, 9}, 607682, {Epilepsy, juvenile myoclonic, susceptibility to, 6}, 607682, Episodic ataxia, type 5, 613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 ASAH1 Tracy Lester reviewed gene: ASAH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8955159, 22703880, 27026573 ; Phenotypes: Farber lipogranulomatosis, 228000, Spinal muscular atrophy with progressive myoclonic epilepsy, 159950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ALG2 Tracy Lester reviewed gene: ALG2: Rating: RED; Mode of pathogenicity: ; Publications: 12684507; Phenotypes: ?Congenital disorder of glycosylation type Ii, 607906, Myasthenic syndrome congenital 14 with tubular aggregates, 616228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ALG12 Tracy Lester reviewed gene: ALG12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation type Ig, 607143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ADGRV1 Tracy Lester reviewed gene: ADGRV1: Rating: AMBER; Mode of pathogenicity: ; Publications: 12402266, 29266188 ; Phenotypes: ?Febrile seizures, familial, 4, 604352 , Usher syndrome, type 2C, 605472 , Usher syndrome, type 2C, GPR98/PDZD7 digenic, 605472; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 AARS2 Tracy Lester reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 21549344, 25817015; Phenotypes: Combined oxidative phosphorylation deficiency 8, 614096, Leukoencephalopathy progressive with ovarian failure, 615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 VLDLR Tracy Lester reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: 19332571, 18326629; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 UFC1 Tracy Lester reviewed gene: UFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27431290; Phenotypes: Neurodevelopmental disorder with spasticity and poor growth, 618076; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TXNRD1 Tracy Lester reviewed gene: TXNRD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28232204; Phenotypes: generalized epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TUBB Tracy Lester reviewed gene: TUBB: Rating: AMBER; Mode of pathogenicity: ; Publications: 23246003; Phenotypes: Cortical dysplasia complex with other brain malformations 6, 615771, Symmetric circumferential skin creases congenital 1, 156610; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TUBA8 Tracy Lester reviewed gene: TUBA8: Rating: AMBER; Mode of pathogenicity: ; Publications: 19896110; Phenotypes: Cortical dysplasia complex with other brain malformations 8, 613180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TSFM Tracy Lester reviewed gene: TSFM: Rating: AMBER; Mode of pathogenicity: ; Publications: 17033963; Phenotypes: Combined oxidative phosphorylation deficiency 3, 610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TSEN34 Tracy Lester reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: ; Publications: 18711368; Phenotypes: ?Pontocerebellar hypoplasia type 2C, 612390; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 TSEN15 Tracy Lester reviewed gene: TSEN15: Rating: AMBER; Mode of pathogenicity: ; Publications: 25558065; Phenotypes: Pontocerebellar hypoplasia, type 2F, 617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TRIP13 Tracy Lester reviewed gene: TRIP13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mosaic variegated aneuploidy syndrome 3, 617598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TRAPPC6B Tracy Lester reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28626029; Phenotypes: Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy, 617862; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TRAPPC12 Tracy Lester reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777934; Phenotypes: Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, 617669; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TRAF7 Tracy Lester reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: ; Publications: 29961569; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, 618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TNK2 Tracy Lester reviewed gene: TNK2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23686771; Phenotypes: autosomal recessive infantile onset epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TIMM50 Tracy Lester reviewed gene: TIMM50: Rating: AMBER; Mode of pathogenicity: ; Publications: 27573165; Phenotypes: 3-methylglutaconic aciduria, type IX, 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TFE3 Tracy Lester reviewed gene: TFE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Renal cell carcinoma, papillary, 300854; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 TELO2 Tracy Lester reviewed gene: TELO2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28944240; Phenotypes: You-Hoover-Fong syndrome, 616954; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TBC1D20 Tracy Lester reviewed gene: TBC1D20: Rating: AMBER; Mode of pathogenicity: ; Publications: 25476608; Phenotypes: Warburg micro syndrome 4, 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SUCLG1 Tracy Lester reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26028457; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ST3GAL3 Tracy Lester reviewed gene: ST3GAL3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21907012; Phenotypes: ?Epileptic encephalopathy, early infantile, 15, 615006 , Mental retardation 12, 611090 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SRPX2 Tracy Lester reviewed gene: SRPX2: Rating: RED; Mode of pathogenicity: ; Publications: 23933820, 23831613 ; Phenotypes: ?Rolandic epilepsy mental retardation and speech dyspraxia, 300643; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 SPR Tracy Lester reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: 11443547; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SNIP1 Tracy Lester reviewed gene: SNIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 22279524; Phenotypes: Psychomotor retardation, epilepsy, and craniofacial dysmorphism, 614501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SMC1A Tracy Lester reviewed gene: SMC1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28166369; Phenotypes: Cornelia de Lange syndrome 2, 300590; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 SLC45A1 Tracy Lester reviewed gene: SLC45A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28434495; Phenotypes: Intellectual developmental disorder with neuropsychiatric features, 617532; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SLC35A1 Tracy Lester reviewed gene: SLC35A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28856833; Phenotypes: Congenital disorder of glycosylation type IIf, 603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SIX3 Tracy Lester reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: ; Publications: 15523651, 21940735 ; Phenotypes: Holoprosencephaly 2, 157170, Schizencephaly, 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SETD1B Tracy Lester reviewed gene: SETD1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 29322246; Phenotypes: Intellectual disability, epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SDHA Tracy Lester reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1GG, 613642 , Leigh syndrome, 256000 , , Mitochondrial, Mitochondrial respiratory chain complex II deficiency, 252011 , Paragangliomas 5, 614165; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RYR2 Tracy Lester reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: ; Publications: 18483626; Phenotypes: Arrhythmogenic right ventricular dysplasia 2, 600996, Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 RUSC2 Tracy Lester reviewed gene: RUSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27612186; Phenotypes: Mental retardation 61, 617773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RRM2B Tracy Lester reviewed gene: RRM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 17486094, 19138848 ; Phenotypes: Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075, Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075, Progressive external ophthalmoplegia with mitochondrial DNA deletions 5, 613077; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RPIA Tracy Lester reviewed gene: RPIA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Ribose 5-phosphate isomerase deficiency, 608611; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RNU4ATAC Tracy Lester reviewed gene: RNU4ATAC: Rating: RED; Mode of pathogenicity: ; Publications: 22581640; Phenotypes: Microcephalic osteodysplastic primordial dwarfism, type I, 210710 , Roifman syndrome, 616651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RAB3GAP2 Tracy Lester reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 20967465; Phenotypes: Martsolf syndrome, 212720 , Warburg micro syndrome 2, 614225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RAB3GAP1 Tracy Lester reviewed gene: RAB3GAP1: Rating: RED; Mode of pathogenicity: ; Publications: 20512159; Phenotypes: Warburg micro syndrome 1, 600118; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PTF1A Tracy Lester reviewed gene: PTF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 28663161; Phenotypes: Pancreatic agenesis 2, 615935, Pancreatic and cerebellar agenesis, 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PSPH Tracy Lester reviewed gene: PSPH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Phosphoserine phosphatase deficiency, 614023; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PSAT1 Tracy Lester reviewed gene: PSAT1: Rating: RED; Mode of pathogenicity: ; Publications: 17436247; Phenotypes: Neu-Laxova syndrome 2, 616038 , ?Phosphoserine aminotransferase deficiency, 610992; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 POMT2 Tracy Lester reviewed gene: POMT2: Rating: RED; Mode of pathogenicity: ; Publications: 17878207; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 613150, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) , 613156, Muscular dystrophy-dystroglycanopathy (limb-girdle), 613158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PIGQ Tracy Lester reviewed gene: PIGQ: Rating: GREEN; Mode of pathogenicity: ; Publications: 24463883; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PIGH Tracy Lester reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29573052; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, 618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PIGC Tracy Lester reviewed gene: PIGC: Rating: GREEN; Mode of pathogenicity: ; Publications: 27694521; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 16, 617816; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PEX5 Tracy Lester reviewed gene: PEX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 7719337; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), 214110 , Peroxisome biogenesis disorder 2B, 202370, Rhizomelic chondrodysplasia punctata type 5, 616716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PDSS2 Tracy Lester reviewed gene: PDSS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency primary 3, 614652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PCLO Tracy Lester reviewed gene: PCLO: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Pontocerebellar hypoplasia, type 3, 608027; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 OTX2 Tracy Lester reviewed gene: OTX2: Rating: AMBER; Mode of pathogenicity: ; Publications: 19965921, 15846561 ; Phenotypes: Microphthalmia syndromic 5, 610125, Pituitary hormone deficiency combined, 613986, Retinal dystrophy early-onset with or without pituitary dysfunction, 610125; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 NUBPL Tracy Lester reviewed gene: NUBPL: Rating: AMBER; Mode of pathogenicity: ; Publications: 20818383; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21, 618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NPRL2 Tracy Lester reviewed gene: NPRL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26505888; Phenotypes: Epilepsy familial focal with variable foci 2, 617116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 NEDD4L Tracy Lester reviewed gene: NEDD4L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Periventricular nodular heterotopia 7, 617201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 NECAP1 Tracy Lester reviewed gene: NECAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24399846; Phenotypes: ?Epileptic encephalopathy, early infantile, 21, 615833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NDUFS7 Tracy Lester reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3, 618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NDUFS6 Tracy Lester reviewed gene: NDUFS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9, 618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NDUFS2 Tracy Lester reviewed gene: NDUFS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 20819849; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, 618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NDUFS1 Tracy Lester reviewed gene: NDUFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 11349233; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, 618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NDUFAF4 Tracy Lester reviewed gene: NDUFAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: 19463981, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15, 618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NDUFAF3 Tracy Lester reviewed gene: NDUFAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: 19463981; Phenotypes: Mitochondrial complex I deficiency nuclear type 18, 618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NDUFA2 Tracy Lester reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 18513682; Phenotypes: ?Mitochondrial complex I deficiency nuclear type 13, 618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NDP Tracy Lester reviewed gene: NDP: Rating: RED; Mode of pathogenicity: ; Publications: 17334993, 27217716; Phenotypes: Norrie disease, 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 MED17 Tracy Lester reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: ; Publications: 20950787; Phenotypes: Microcephaly postnatal progressive with seizures and brain atrophy, 613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MAST1 Tracy Lester reviewed gene: MAST1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 MANBA Tracy Lester reviewed gene: MANBA: Rating: AMBER; Mode of pathogenicity: ; Publications: 22369051; Phenotypes: Mannosidosis, beta, 248510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 LNPK Tracy Lester reviewed gene: LNPK: Rating: AMBER; Mode of pathogenicity: ; Publications: 30032983; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, 618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 LIPT2 Tracy Lester reviewed gene: LIPT2: Rating: RED; Mode of pathogenicity: ; Publications: 28757203; Phenotypes: Encephalopathy neonatal severe with lactic acidosis and brain abnormalities, 617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 LARGE1 Tracy Lester reviewed gene: LARGE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation) type B, 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 KPTN Tracy Lester reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: 24239382; Phenotypes: Mental retardation 41, 615637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 KIAA1109 Tracy Lester reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: ; Publications: 29290337; Phenotypes: Alkuraya-Kucinskas syndrome, 617822; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 KCNMA1 Tracy Lester reviewed gene: KCNMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Cerebellar atrophy developmental delay and seizures, 617643, Paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy, 609446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 ISPD Tracy Lester reviewed gene: ISPD: Rating: AMBER; Mode of pathogenicity: ; Publications: 15937479, 26195193 ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 7 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 7 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 HSPD1 Tracy Lester reviewed gene: HSPD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy hypomyelinating 4, 612233, Spastic paraplegia 13, 605280; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 HPRT1 Tracy Lester reviewed gene: HPRT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HPRT-related gout, 300323, Lesch-Nyhan syndrome, 300322; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 HOXA1 Tracy Lester reviewed gene: HOXA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Athabaskan brainstem dysgenesis syndrome, 601536 , Bosley-Salih-Alorainy syndrome, 601536; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 HEXB Tracy Lester reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Sandhoff disease infantile juvenile and adult forms, 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 HCCS Tracy Lester reviewed gene: HCCS: Rating: RED; Mode of pathogenicity: ; Publications: 17033964; Phenotypes: Linear skin defects with multiple congenital anomalies, 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 GTPBP3 Tracy Lester reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23, 616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GLRA1 Tracy Lester reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20631190; Phenotypes: Hyperekplexia 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GLI3 Tracy Lester reviewed gene: GLI3: Rating: RED; Mode of pathogenicity: ; Publications: 11484201; Phenotypes: Greig cephalopolysyndactyly syndrome, 175700, {Hypothalamic hamartomas, somatic}, 241800 , Pallister-Hall syndrome, 146510, Polydactyly postaxial types A1 and B, 174200, Polydactyly preaxial type IV, 174700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 FOXRED1 Tracy Lester reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20818383, 27215383; Phenotypes: Mitochondrial complex I deficiency nuclear type 19, 618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 FKRP Tracy Lester reviewed gene: FKRP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A 613153, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation) type B, 606612, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 5, 607155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 FASTKD2 Tracy Lester reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28499982, 18771761, 25916514 ; Phenotypes: ?Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 EIF2B3 Tracy Lester reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21307862; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 EIF2B1 Tracy Lester reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25843247, 25761052 ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 EFHC1 Tracy Lester reviewed gene: EFHC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19901254; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 , {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 DPM2 Tracy Lester reviewed gene: DPM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23109149, 19901254 ; Phenotypes: Congenital disorder of glycosylation type Iu, 615042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DOLK Tracy Lester reviewed gene: DOLK: Rating: AMBER; Mode of pathogenicity: ; Publications: 23890587; Phenotypes: Congenital disorder of glycosylation type Im, 610768; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DNAJC6 Tracy Lester reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: ; Publications: 23211418; Phenotypes: Parkinson disease 19a juvenile-onset, 615528, Parkinson disease 19b early-onset, 615528; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DHCR24 Tracy Lester reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: 21559050, 21671375 ; Phenotypes: Desmosterolosis, 602398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DBT Tracy Lester reviewed gene: DBT: Rating: GREEN; Mode of pathogenicity: ; Publications: 1990841; Phenotypes: Maple syrup urine disease,type II 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CUX2 Tracy Lester reviewed gene: CUX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29795476, 29630738 ; Phenotypes: Epileptic encephalopathy early infantile 67, 618141; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CSNK2B Tracy Lester reviewed gene: CSNK2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28762608, 28585349 ; Phenotypes: Intellectual disability with or without myoclonic epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 COX15 Tracy Lester reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: ; Publications: 12474143; Phenotypes: Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency 2 615119 , Leigh syndrome due to cytochrome c oxidase deficiency, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 COX10 Tracy Lester reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: ; Publications: 10767350; Phenotypes: Leigh syndrome due to mitochondrial COX4 deficiency, 256000 , Mitochondrial, Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 COQ6 Tracy Lester reviewed gene: COQ6: Rating: AMBER; Mode of pathogenicity: ; Publications: 21540551; Phenotypes: Coenzyme Q10 deficiency, primary, 6, 614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 COG8 Tracy Lester reviewed gene: COG8: Rating: AMBER; Mode of pathogenicity: ; Publications: 17331980, 17220172 ; Phenotypes: Congenital disorder of glycosylation, type IIh, 611182; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 COG6 Tracy Lester reviewed gene: COG6: Rating: AMBER; Mode of pathogenicity: ; Publications: 20605848; Phenotypes: Congenital disorder of glycosylation type IIl, 614576 , Shaheen syndrome, 615328; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 COG4 Tracy Lester reviewed gene: COG4: Rating: AMBER; Mode of pathogenicity: ; Publications: 21185756; Phenotypes: Congenital disorder of glycosylation type IIj, 613489 , Saul-Wilson syndrome, 618150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CNPY3 Tracy Lester reviewed gene: CNPY3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29394991; Phenotypes: Epileptic encephalopathy, early infantile, 60, 617929; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CCND2 Tracy Lester reviewed gene: CCND2: Rating: RED; Mode of pathogenicity: ; Publications: 24705253; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CCDC88C Tracy Lester reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: 21031079; Phenotypes: Hydrocephalus, congenital, 1, 236600 , ?Spinocerebellar ataxia 40, 616053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CCDC88A Tracy Lester reviewed gene: CCDC88A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26917597; Phenotypes: ?PEHO syndrome-like, 617507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CACNA2D2 Tracy Lester reviewed gene: CACNA2D2: Rating: AMBER; Mode of pathogenicity: ; Publications: 24358150; Phenotypes: ? Epileptic encephalopathy ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CACNA1H Tracy Lester reviewed gene: CACNA1H: Rating: AMBER; Mode of pathogenicity: ; Publications: 15048902; Phenotypes: {Epilepsy, childhood absence, susceptibility to, 6}, 611942 , {Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 , Hyperaldosteronism, familial, type IV, 617027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 ATP6AP2 Tracy Lester reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: ; Publications: 26467484, 23595882, 29127204; Phenotypes: ?Parkinsonism with spasticity X-linked 300911, Mental retardation X-linked syndromic Hedera type 300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 ATP5A1 Tracy Lester reviewed gene: ATP5A1: Rating: RED; Mode of pathogenicity: ; Publications: 23599390; Phenotypes: ?Combined oxidative phosphorylation deficiency 22 616045, ?Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ATP1A2 Tracy Lester reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: 15159495; Phenotypes: Alternating hemiplegia of childhood 1, 104290 , Migraine familial basilar, 602481 , Migraine, familial hemiplegic, 2, 602481; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 ADAT3 Tracy Lester reviewed gene: ADAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 23620220; Phenotypes: Mental retardation autosomal recessive 36, 615286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ZBTB18 Tracy Lester reviewed gene: ZBTB18: Rating: GREEN; Mode of pathogenicity: ; Publications: 27598823; Phenotypes: Mental retardation 22, 612337; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 YWHAG Tracy Lester reviewed gene: YWHAG: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777935; Phenotypes: Epileptic encephalopathy early infantile 56, 605356; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 WDR73 Tracy Lester reviewed gene: WDR73: Rating: GREEN; Mode of pathogenicity: ; Publications: 30315938, 20083416 ; Phenotypes: Galloway-Mowat syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 WDR62 Tracy Lester reviewed gene: WDR62: Rating: AMBER; Mode of pathogenicity: ; Publications: 20729831; Phenotypes: Microcephaly 2 primary autosomal recessive with or without cortical malformations, 604317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 WASF1 Tracy Lester reviewed gene: WASF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29961568; Phenotypes: intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 VARS Tracy Lester reviewed gene: VARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26539891, 29691655 ; Phenotypes: Neurodevelopmental disorder with microcephaly seizures and cortical atrophy, 617802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 UNC80 Tracy Lester reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: ; Publications: 26708751; Phenotypes: Hypotonia infantile with psychomotor retardation and characteristic facies 2, 616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 UFM1 Tracy Lester reviewed gene: UFM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29868776, 28931644 ; Phenotypes: Leukodystrophy hypomyelinating 14 617899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 UBA5 Tracy Lester reviewed gene: UBA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27545674; Phenotypes: Epileptic encephalopathy early infantile 44, 617132; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TUBG1 Tracy Lester reviewed gene: TUBG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23603762; Phenotypes: Cortical dysplasia complex with other brain malformations 4, 615412; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TUBB4A Tracy Lester reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25168210; Phenotypes: Dystonia 4 torsion autosomal dominant, 128101, Leukodystrophy hypomyelinating 6, 612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TUBB3 Tracy Lester reviewed gene: TUBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28503613, 28378416, 26639658; Phenotypes: Cortical dysplasia complex with other brain malformations 1, 614039, Fibrosis of extraocular muscles congenital 3A, 600638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TUBB2B Tracy Lester reviewed gene: TUBB2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 19465910; Phenotypes: Cortical dysplasia complex with other brain malformations 7, 610031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TUBB2A Tracy Lester reviewed gene: TUBB2A: Rating: AMBER; Mode of pathogenicity: ; Publications: 24702957; Phenotypes: Cortical dysplasia complex with other brain malformations 5, 615763; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TUBA1A Tracy Lester reviewed gene: TUBA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 17584854, 18954413 ; Phenotypes: Lissencephaly 3, 611603; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TSEN54 Tracy Lester reviewed gene: TSEN54: Rating: GREEN; Mode of pathogenicity: ; Publications: 20956791, 20952379 ; Phenotypes: ?Pontocerebellar hypoplasia type 5, 610204, Pontocerebellar hypoplasia type 2A, 277470, Pontocerebellar hypoplasia type 4, 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TSEN2 Tracy Lester reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23562994; Phenotypes: Pontocerebellar hypoplasia type 2B, 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TSC2 Tracy Lester reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28215400; Phenotypes: Tuberous sclerosis-2, 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TSC1 Tracy Lester reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28215400; Phenotypes: Tuberous sclerosis-1, 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TRIM8 Tracy Lester reviewed gene: TRIM8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27346735, 30244534 ; Phenotypes: epileptic encephalopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TREX1 Tracy Lester reviewed gene: TREX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20876473; Phenotypes: Aicardi-Goutieres syndrome 1 dominant and recessive, 225750, Chilblain lupus, 610448, Vasculopathy retinal with cerebral leukodystrophy, 192315; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TMEM70 Tracy Lester reviewed gene: TMEM70: Rating: AMBER; Mode of pathogenicity: ; Publications: 25326274, 21147908 ; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency nuclear type 2, 614052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TBL1XR1 Tracy Lester reviewed gene: TBL1XR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25102098; Phenotypes: Mental retardation autosomal dominant 41, 616944, Pierpont syndrome, 602342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TBCK Tracy Lester reviewed gene: TBCK: Rating: GREEN; Mode of pathogenicity: ; Publications: 25558065, 27275012 ; Phenotypes: Hypotonia infantile with psychomotor retardation and characteristic facies 3, 616900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TBCD Tracy Lester reviewed gene: TBCD: Rating: GREEN; Mode of pathogenicity: ; Publications: 28158450, 27666370; Phenotypes: Encephalopathy progressive early-onset with brain atrophy and thin corpus callosum, 617193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TANGO2 Tracy Lester reviewed gene: TANGO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26805782, 30245509 ; Phenotypes: Metabolic encephalomyopathic crises recurrent with rhabdomyolysis cardiac arrhythmias and neurodegeneration, 616878; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SYN1 Tracy Lester reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21441247; Phenotypes: Epilepsy X-linked with variable learning disabilities and behavior disorders, 300491; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 SURF1 Tracy Lester reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24027061, 23829769, 29481804 ; Phenotypes: Charcot-Marie-Tooth disease type 4K, 616684, Leigh syndrome, due to COX IV deficiency, 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SUCLA2 Tracy Lester reviewed gene: SUCLA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15877282, 17301081 , 23759946 ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 STAMBP Tracy Lester reviewed gene: STAMBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 21271646, 23542699 ; Phenotypes: Microcephaly-capillary malformation syndrome, 614261; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 STAG1 Tracy Lester reviewed gene: STAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28119487; Phenotypes: Mental retardation autosomal dominant, 47 617635; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 ST3GAL5 Tracy Lester reviewed gene: ST3GAL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 15502825, 22990144, 24026681 ; Phenotypes: Salt and pepper developmental regression syndrome, 609056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SNORD118 Tracy Lester reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: ; Publications: 28177126; Phenotypes: Leukoencephalopathy brain calcifications and cysts, 614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SMS Tracy Lester reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: ; Publications: 30237987; Phenotypes: Mental retardation X-linked Snyder-Robinson type, 309583; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 SMARCA2 Tracy Lester reviewed gene: SMARCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22426308, 27665729; Phenotypes: Nicolaides-Baraitser syndrome, 601358; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SLC6A8 Tracy Lester reviewed gene: SLC6A8: Rating: GREEN; Mode of pathogenicity: ; Publications: 11898126, 26951207; Phenotypes: Cerebral creatine deficiency syndrome 1, 300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 SLC25A12 Tracy Lester reviewed gene: SLC25A12: Rating: AMBER; Mode of pathogenicity: ; Publications: 24515575, 19641205 ; Phenotypes: Epileptic encephalopathy early infantile 39, 612949; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SLC1A4 Tracy Lester reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26138499, 26041762 ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SETBP1 Tracy Lester reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25217958, 28346496 ; Phenotypes: Mental retardation autosomal dominant 29,616078, Schinzel-Giedion midface retraction syndrome, 269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SEPSECS Tracy Lester reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: ; Publications: 27576344; Phenotypes: Pontocerebellar hypoplasia type 2D, 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SCO2 Tracy Lester reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: 15210538; Phenotypes: Cardioencephalomyopathy fatal infantile due to cytochrome c oxidase deficiency, 604377, Myopia, 608908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SCO1 Tracy Lester reviewed gene: SCO1: Rating: AMBER; Mode of pathogenicity: ; Publications: 19268667, 11013136 ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SCN3A Tracy Lester reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28235671 , 29466837 ; Phenotypes: Epilepsy familial focal with variable foci, 617935 AD, Epileptic encephalopathy early infantile, 617938; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SAMHD1 Tracy Lester reviewed gene: SAMHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29239743; Phenotypes: ?Chilblain lupus, 614415 AD, Aicardi-Goutieres syndrome, 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RTTN Tracy Lester reviewed gene: RTTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 22939636; Phenotypes: Microcephaly short stature and polymicrogyria with seizures, 614833; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RTN4IP1 Tracy Lester reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26593267, 29181510; Phenotypes: Optic atrophy 10 with or without ataxia mental retardation and seizures, 616732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RORB Tracy Lester reviewed gene: RORB: Rating: GREEN; Mode of pathogenicity: ; Publications: 27352968; Phenotypes: epilepsy absence seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 RORA Tracy Lester reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: ; Publications: 29656859; Phenotypes: Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 ROGDI Tracy Lester reviewed gene: ROGDI: Rating: GREEN; Mode of pathogenicity: ; Publications: 22482807; Phenotypes: Kohlschutter-Tonz syndrome, 226750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RNASET2 Tracy Lester reviewed gene: RNASET2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19525954; Phenotypes: Leukoencephalopathy cystic without megalencephaly, 612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RNASEH2C Tracy Lester reviewed gene: RNASEH2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604658; Phenotypes: Aicardi-Goutieres syndrome, 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RNASEH2B Tracy Lester reviewed gene: RNASEH2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604658; Phenotypes: Aicardi-Goutieres syndrome, 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RNASEH2A Tracy Lester reviewed gene: RNASEH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25604658; Phenotypes: Aicardi-Goutieres syndrome, 610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RMND1 Tracy Lester reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23022098, 27412952 ; Phenotypes: Combined oxidative phosphorylation deficiency, 614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RHOBTB2 Tracy Lester reviewed gene: RHOBTB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276004; Phenotypes: Epileptic encephalopathy early infantile, 618004; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 RFT1 Tracy Lester reviewed gene: RFT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19701946; Phenotypes: Congenital disorder of glycosylation type In, 612015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RELN Tracy Lester reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: ; Publications: 7682675; Phenotypes: Lissencephaly 2 (Norman-Roberts type), 257320, {Epilepsy, familial temporal lobe, 7}, 616436; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RARS2 Tracy Lester reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 20635367; Phenotypes: Pontocerebellar hypoplasia, 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RALA Tracy Lester reviewed gene: RALA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: intellectual disability and developmental delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 RAB18 Tracy Lester reviewed gene: RAB18: Rating: GREEN; Mode of pathogenicity: ; Publications: 21473985; Phenotypes: Warburg micro syndrome, 614222; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RAB11B Tracy Lester reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait absent speech and decreased cortical white matter, 617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 QDPR Tracy Lester reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperphenylalaninemia BH4-deficient, 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PTS Tracy Lester reviewed gene: PTS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperphenylalaninemia BH4-deficient A, 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PTPN23 Tracy Lester reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: ; Publications: 29090338; Phenotypes: epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PTEN Tracy Lester reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 11726927, 12085208, 11726926 ; Phenotypes: Cowden syndrome, 158350, Lhermitte-Duclos syndrome, 158350, Macrocephaly/autism syndrome, 605309, VATER association with macrocephaly and ventriculomegaly, 276950, {Glioma susceptibility 2}, 613028, {Meningioma}, 607174, ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PSAP Tracy Lester reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 19267410; Phenotypes: Combined SAP deficiency 611721, Gaucher disease, atypical 610539, Krabbe disease, atypical 611722, Metachromatic leukodystrophy due to SAP-b deficiency 249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PRMT7 Tracy Lester reviewed gene: PRMT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 26437029; Phenotypes: short stature brachydactyly intellectual developmental disability and seizures 617157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PRICKLE1 Tracy Lester reviewed gene: PRICKLE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21276947, 21276947; Phenotypes: Epilepsy progressive myoclonic, 612437; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PPT1 Tracy Lester reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11717424; Phenotypes: Ceroid lipofuscinosis neuronal, 256730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PPP3CA Tracy Lester reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28942967; Phenotypes: Arthrogryposis cleft palate craniosynostosis and impaired intellectual development, 618265, Epileptic encephalopathyinfantile or early childhood, 617711; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 POMT1 Tracy Lester reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19299310; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), 236670, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), 613155, Muscular dystrophy-dystroglycanopathy (limb-girdle), 60930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 POMGNT1 Tracy Lester reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15466003; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 3 253280, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation)type B, 3 613151, Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 3 613157 , Retinitis pigmentosa 76 617123; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PMM2 Tracy Lester reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26453362; Phenotypes: Congenital disorder of glycosylation, 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PLAA Tracy Lester reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28007986, 28413018 ; Phenotypes: Neurodevelopmental disorder with progressive microcephaly spasticity and brain anomalies, 617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PIK3R2 Tracy Lester reviewed gene: PIK3R2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26860062; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 PIK3CA Tracy Lester reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PIGW Tracy Lester reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: 27626616; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect, 616025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PIGO Tracy Lester reviewed gene: PIGO: Rating: GREEN; Mode of pathogenicity: ; Publications: 22683086; Phenotypes: Hyperphosphatasia with mental retardation syndrome, 614749; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PIGG Tracy Lester reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: 26996948; Phenotypes: Mental retardation, 616917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PHGDH Tracy Lester reviewed gene: PHGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 11751922; Phenotypes: Neu-Laxova syndrome, 256520, Phosphoglycerate dehydrogenase deficiency, 601815; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PHACTR1 Tracy Lester reviewed gene: PHACTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30256902; Phenotypes: Epileptic encephalopathy early infantile, 618298; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 PEX7 Tracy Lester reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PEX6 Tracy Lester reviewed gene: PEX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PEX3 Tracy Lester reviewed gene: PEX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PEX2 Tracy Lester reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PEX19 Tracy Lester reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PEX13 Tracy Lester reviewed gene: PEX13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PEX12 Tracy Lester reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 PEX10 Tracy Lester reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: 28784167; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), 614870, Peroxisome biogenesis disorder, 614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PEX1 Tracy Lester reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: 16141001; Phenotypes: Heimler syndrome 1 234580, Peroxisome biogenesis disorder 1A (Zellweger) 214100, Peroxisome biogenesis disorder 1B (NALD/IRD) 601539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PET100 Tracy Lester reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: 24462369; Phenotypes: Mitochondrial complex IV deficiency,220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PDHX Tracy Lester reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: 25087164; Phenotypes: Lacticacidemia due to PDX1 deficiency, 245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PDHA1 Tracy Lester reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27896109; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency, 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 PCDH12 Tracy Lester reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27164683; Phenotypes: Microcephaly, seizures, spasticity, and brain calcification, 251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PCCB Tracy Lester reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: ; Publications: 7386459; Phenotypes: Propionicacidemia, 606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PCCA Tracy Lester reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30014764; Phenotypes: Propionicacidemia, 606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PAH Tracy Lester reviewed gene: PAH: Rating: GREEN; Mode of pathogenicity: ; Publications: 8097262, 25014052 ; Phenotypes: Phenylketonuria 261600, [Hyperphenylalaninemia, non-PKU mild], 261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PAFAH1B1 Tracy Lester reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11502906, 11754098 ; Phenotypes: Lissencephaly, 607432, Subcortical laminar heterotopia, 607432; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 PACS2 Tracy Lester reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30290155; Phenotypes: Epileptic encephalopathy, early infantile, 618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 PACS1 Tracy Lester reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23159249; Phenotypes: Schuurs-Hoeijmakers syndrome, 615009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 OTUD6B Tracy Lester reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 28343629; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 OPHN1 Tracy Lester reviewed gene: OPHN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18512229 , 12805098 ; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 OCLN Tracy Lester reviewed gene: OCLN: Rating: GREEN; Mode of pathogenicity: ; Publications: 28386946; Phenotypes: Pseudo-TORCH syndrome, 251290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NTRK2 Tracy Lester reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100083; Phenotypes: Epileptic encephalopathy, early infantile, 617830, Obesity, hyperphagia, and developmental delay 613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 NSDHL Tracy Lester reviewed gene: NSDHL: Rating: GREEN; Mode of pathogenicity: ; Publications: 21129721; Phenotypes: CHILD syndrome, 308050, CK syndrome, 300831; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 NSD1 Tracy Lester reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23592277; Phenotypes: Leukemia, acute myeloid, 601626, Sotos syndrome 1, 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 NRXN1 Tracy Lester reviewed gene: NRXN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19896112, 22617343 ; Phenotypes: Pitt-Hopkins-like syndrome 2 614325, {Schizophrenia, susceptibility to, 17}, 614332; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NPRL3 Tracy Lester reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26505888; Phenotypes: Epilepsy, familial focal, with variable foci 3, 617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 NHLRC1 Tracy Lester reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15781812 , 21505799; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora), 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NGLY1 Tracy Lester reviewed gene: NGLY1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFV1 Tracy Lester reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFS8 Tracy Lester reviewed gene: NDUFS8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFS4 Tracy Lester reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFAF5 Tracy Lester reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFAF2 Tracy Lester reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18180188; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10, 618233; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 NDUFA10 Tracy Lester reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: ; Publications: 21150889, 30423443; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22, 618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NDUFA1 Tracy Lester reviewed gene: NDUFA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19185523, 25356405; Phenotypes: Mitochondrial complex I deficiency, nuclear type 12, 301020; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 NDE1 Tracy Lester reviewed gene: NDE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22523559, 30637988 ; Phenotypes: ?Microhydranencephaly, 605013, Lissencephaly 4 (with microcephaly), 614019; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NARS2 Tracy Lester reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25385316, 25807530, 30327238 ; Phenotypes: Combined oxidative phosphorylation deficiency, 616239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 NAGA Tracy Lester reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 11313741; Phenotypes: Kanzaki disease 609242 , Schindler disease, type I 609241 , Schindler disease, type III 609241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MTR Tracy Lester reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MTHFR Tracy Lester reviewed gene: MTHFR: Rating: GREEN; Mode of pathogenicity: ; Publications: 3580562, 29391032 ; Phenotypes: Homocystinuria due to MTHFR deficiency, 236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MPDU1 Tracy Lester reviewed gene: MPDU1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11733556; Phenotypes: Congenital disorder of glycosylation, type If, 609180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MOCS2 Tracy Lester reviewed gene: MOCS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11746050, 16021469 ; Phenotypes: Molybdenum cofactor deficiency B, 252160; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MOCS1 Tracy Lester reviewed gene: MOCS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9921896; Phenotypes: Molybdenum cofactor deficiency A 252150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MMADHC Tracy Lester reviewed gene: MMADHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 18385497; Phenotypes: Homocystinuria, cblD type, variant 1 277410, Methylmalonic aciduria and homocystinuria, cblD type, 277410, Methylmalonic aciduria, cblD type, variant 2, 277410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MMACHC Tracy Lester reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26283149, 29068997 , 16311595, 21748408; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MLC1 Tracy Lester reviewed gene: MLC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29466841; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts, 604004; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MFSD8 Tracy Lester reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: 19201763; Phenotypes: Ceroid lipofuscinosis, neuronal, 7, 610951, Macular dystrophy with central cone involvement 616170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MED12 Tracy Lester reviewed gene: MED12: Rating: GREEN; Mode of pathogenicity: ; Publications: 17334363; Phenotypes: Lujan-Fryns syndrome 309520 XLR, Ohdo syndrome, X-linked 300895 XLR, Opitz-Kaveggia syndrome 305450 XLR; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 MAP2K2 Tracy Lester reviewed gene: MAP2K2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome, 615280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 MAP2K1 Tracy Lester reviewed gene: MAP2K1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiofaciocutaneous syndrome, 615279; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 MAGI2 Tracy Lester reviewed gene: MAGI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27932480, 18565486 ; Phenotypes: Nephrotic syndrome, type 15, 617609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MAF Tracy Lester reviewed gene: MAF: Rating: GREEN; Mode of pathogenicity: ; Publications: 25865493; Phenotypes: Ayme-Gripp syndrome, 601088, Cataract 21, multiple types, 610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 MACF1 Tracy Lester reviewed gene: MACF1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 30471716; Phenotypes: cortical malformation; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 LYST Tracy Lester reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: 10648412; Phenotypes: Chediak-Higashi syndrome, 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 LIAS Tracy Lester reviewed gene: LIAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 26108146; Phenotypes: Hyperglycinemia, lactic acidosis, and seizures, 614462; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 KRAS Tracy Lester reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 21686750, 21871821 ; Phenotypes: Cardiofaciocutaneous syndrome, 615278; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KIF5C Tracy Lester reviewed gene: KIF5C: Rating: GREEN; Mode of pathogenicity: ; Publications: 23603762; Phenotypes: Cortical dysplasia, complex, with other brain malformations, 615282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KIF2A Tracy Lester reviewed gene: KIF2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23603762, 29313800; Phenotypes: Cortical dysplasia, complex, with other brain malformations, 615411; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KIF1A Tracy Lester reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25265257; Phenotypes: Mental retardation, 614255, Neuropathy, hereditary sensory, type IIC 614213, Spastic paraplegia 30 610357; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KCTD3 Tracy Lester reviewed gene: KCTD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 29406573; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 KCNQ5 Tracy Lester reviewed gene: KCNQ5: Rating: GREEN; Mode of pathogenicity: ; Publications: 28669405; Phenotypes: Mental retardation, 617601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KCNK4 Tracy Lester reviewed gene: KCNK4: Rating: GREEN; Mode of pathogenicity: ; Publications: 30290154; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KCNJ11 Tracy Lester reviewed gene: KCNJ11: Rating: GREEN; Mode of pathogenicity: ; Publications: 19254908, 16670688 ; Phenotypes: Hyperinsulinemic hypoglycemia, familial, 601820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 KCNA1 Tracy Lester reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24578548; Phenotypes: Episodic ataxia/myokymia syndrome, 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KARS Tracy Lester reviewed gene: KARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 29615062; Phenotypes: ?Charcot-Marie-Tooth disease, recessive intermediate, 613641, Deafness, 613916; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 IRF2BPL Tracy Lester reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: ; Publications: 30057031; Phenotypes: Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 IKBKG Tracy Lester reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: 28870493, 28870493 ; Phenotypes: Incontinentia pigmenti, 308300, Immunodeficiency , 300636; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 IFIH1 Tracy Lester reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24686847, 24995871; Phenotypes: Aicardi-Goutieres syndrome, 615846, Singleton-Merten syndrome, 182250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 HSD17B4 Tracy Lester reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25882080, 27790638 ; Phenotypes: D-bifunctional protein deficiency, 261515, Perrault syndrome, 233400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 HRAS Tracy Lester reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 16170316; Phenotypes: Congenital myopathy with excess of muscle spindles, 218040, Costello syndrome, 218040, Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 HLCS Tracy Lester reviewed gene: HLCS: Rating: AMBER; Mode of pathogenicity: ; Publications: 22027809, 27114915; Phenotypes: Holocarboxylase synthetase deficiency, 253270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 HEXA Tracy Lester reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 9222766 ; Phenotypes: GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800, [Hex A pseudodeficiency], 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 HEPACAM Tracy Lester reviewed gene: HEPACAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 21419380; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 HCN2 Tracy Lester reviewed gene: HCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 29064616; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 HCFC1 Tracy Lester reviewed gene: HCFC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24011988, 26893841; Phenotypes: Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 HAX1 Tracy Lester reviewed gene: HAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18611981, 18337561 ; Phenotypes: Neutropenia, severe congenital 3, 610738; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 HACE1 Tracy Lester reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26424145, 26437029 ; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GTPBP2 Tracy Lester reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26675814, 29449720 ; Phenotypes: Jaberi-Elahi syndrome, 617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GRIN2D Tracy Lester reviewed gene: GRIN2D: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616483, 30280376 ; Phenotypes: Epileptic encephalopathy, early infantile, 617162; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GRIA4 Tracy Lester reviewed gene: GRIA4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29220673; Phenotypes: Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GPHN Tracy Lester reviewed gene: GPHN: Rating: GREEN; Mode of pathogenicity: ; Publications: 22040219, 24561070; Phenotypes: Molybdenum cofactor deficiency C, 615501; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GOSR2 Tracy Lester reviewed gene: GOSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21549339, 30363482 ; Phenotypes: Epilepsy, progressive myoclonic, 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GNB5 Tracy Lester reviewed gene: GNB5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual developmental disorder with cardiac arrhythmia, 617173, Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GNB1 Tracy Lester reviewed gene: GNB1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 27108799; Phenotypes: Mental retardation , 616973; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GNAQ Tracy Lester reviewed gene: GNAQ: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 28454448; Phenotypes: Capillary malformations, congenital, 1, somatic, mosaic 163000, Sturge-Weber syndrome, somatic, mosaic 185300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GM2A Tracy Lester reviewed gene: GM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26203402, 28417072 ; Phenotypes: GM2-gangliosidosis, AB variant, 272750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GLUL Tracy Lester reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: ; Publications: 21353613, 16267323 ; Phenotypes: Glutamine deficiency, congenital, 610015; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GLUD1 Tracy Lester reviewed gene: GLUD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19254908; Phenotypes: Hyperinsulinism-hyperammonemia syndrome, 606762; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GLDC Tracy Lester reviewed gene: GLDC: Rating: GREEN; Mode of pathogenicity: ; Publications: 10798358, 29304759, 26947380 ; Phenotypes: Glycine encephalopathy, 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GLB1 Tracy Lester reviewed gene: GLB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29439846; Phenotypes: GM1-gangliosidosis, type I 230500 , GM1-gangliosidosis, type II 230600, GM1-gangliosidosis, type III 230650, Mucopolysaccharidosis type IVB (Morquio) 253010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GFM1 Tracy Lester reviewed gene: GFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 21119709; Phenotypes: Combined oxidative phosphorylation deficiency, 609060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GFAP Tracy Lester reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 11587071, 22496548 ; Phenotypes: Alexander disease, 203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GCH1 Tracy Lester reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 7730309, 29948246; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 128230, Hyperphenylalaninemia, BH4-deficient, B 233910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GBA Tracy Lester reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: 15329082, 18338393 ; Phenotypes: Gaucher disease, perinatal lethal 608013, Gaucher disease, type I 230800, Gaucher disease, type II 230900, Gaucher disease, type III 231000, Gaucher disease, type IIIC 231005, {Lewy body dementia, susceptibility to} 127750, {Parkinson disease, late-onset, susceptibility to} 168600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GAMT Tracy Lester reviewed gene: GAMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 19027335; Phenotypes: Cerebral creatine deficiency syndrome, 612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GALC Tracy Lester reviewed gene: GALC: Rating: GREEN; Mode of pathogenicity: ; Publications: 25260228; Phenotypes: Krabbe disease, 245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GABRB2 Tracy Lester reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29053855; Phenotypes: Epileptic encephalopathy, infantile or early childhood, 617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 FUT8 Tracy Lester reviewed gene: FUT8: Rating: GREEN; Mode of pathogenicity: ; Publications: 29304374; Phenotypes: Congenital disorder of glycosylation with defective fucosylation, 618005; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 FUCA1 Tracy Lester reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27706744; Phenotypes: Fucosidosis, 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 FRRS1L Tracy Lester reviewed gene: FRRS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 27236917; Phenotypes: Epileptic encephalopathy, early infantile, 616981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 FOLR1 Tracy Lester reviewed gene: FOLR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22586289; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 FLNA Tracy Lester reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: 20014127; Phenotypes: Heterotopia periventricular, 1 300049; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 FKTN Tracy Lester reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1X 611615, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800, Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588, ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 FH Tracy Lester reviewed gene: FH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Fumarase deficiency, 606812, Leiomyomatosis and renal cell cancer, 150800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 FGFR3 Tracy Lester reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: 27485793; Phenotypes: Achondroplasia, 100800, Bladder cancer, somatic, 109800, CATSHL syndrome, 610474, Cervical cancer, somatic, 603956, Colorectal cancer, somatic, 114500, Crouzon syndrome with acanthosis nigricans, 612247, Hypochondroplasia, 146000, LADD syndrome, 149730, Muenke syndrome, 602849, Nevus, epidermal, somatic, 162900, SADDAN, 616482, Spermatocytic seminoma, somatic, 273300, Thanatophoric dysplasia, type I, 187600, Thanatophoric dysplasia, type II, 187601, ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 FGF12 Tracy Lester reviewed gene: FGF12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27872899, 27164707 ; Phenotypes: Epileptic encephalopathy, early infantile, 617166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 FBXO11 Tracy Lester reviewed gene: FBXO11: Rating: GREEN; Mode of pathogenicity: ; Publications: 30057029; Phenotypes: Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 FBXL4 Tracy Lester reviewed gene: FBXL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993193; Phenotypes: Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), 615471; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 FARS2 Tracy Lester reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24161539, 29126765; Phenotypes: Combined oxidative phosphorylation deficiency 14, 614946, Spastic paraplegia 77, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 FAR1 Tracy Lester reviewed gene: FAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25439727; Phenotypes: Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 EXOSC3 Tracy Lester reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B, 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ETHE1 Tracy Lester reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20528888; Phenotypes: Ethylmalonic encephalopathy, 602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 EMX2 Tracy Lester reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Schizencephaly, 269160; Mode of inheritance: Unknown
Early onset or syndromic epilepsy v1.188 EIF3F Tracy Lester reviewed gene: EIF3F: Rating: GREEN; Mode of pathogenicity: ; Publications: 30409806; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 EIF2S3 Tracy Lester reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27333055, 28055140 ; Phenotypes: MEHMO syndrome, 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 EIF2B5 Tracy Lester reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: 21484434; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896, Ovarioleukodystrophy 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 EIF2B4 Tracy Lester reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 26043506; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896, Ovarioleukodystrophy, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 EIF2B2 Tracy Lester reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22678813, 24891910; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896, Ovarioleukodystrophy, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 EFTUD2 Tracy Lester reviewed gene: EFTUD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22305528; Phenotypes: Mandibulofacial dysostosis, Guion-Almeida type, 610536; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 EEF1A2 Tracy Lester reviewed gene: EEF1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27441201, 28378778 ; Phenotypes: Epileptic encephalopathy, early infantile, 616409, Mental retardation , 616393; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 EARS2 Tracy Lester reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22492562; Phenotypes: Combined oxidative phosphorylation deficiency, 614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DYNC1H1 Tracy Lester reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21076407, 23603762, 27331017 ; Phenotypes: Charcot-Marie-Tooth disease,axonal type, 614228, Mental retardation autosomal dominant 614563, Spinal muscular atrophy lower extremity-predominant 1, AD 158600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 DPM1 Tracy Lester reviewed gene: DPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23856421; Phenotypes: Congenital disorder of glycosylation type Ie, 608799; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DPAGT1 Tracy Lester reviewed gene: DPAGT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22304930, 12872255, 23249953 ; Phenotypes: Congenital disorder of glycosylation type Ij, 608093, Myasthenic syndrome congenital, 13 with tubular aggregates, 614750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DNM1L Tracy Lester reviewed gene: DNM1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 26604000, 27145208 ; Phenotypes: Encephalopathy lethal due to defective mitochondrial peroxisomal fission, 614388, Optic atrophy, 610708; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DHX30 Tracy Lester reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100085; Phenotypes: Neurodevelopmental disorder with severe motor impairment and absent language, 617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 DHDDS Tracy Lester reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100083; Phenotypes: ?Congenital disorder of glycosylation, 613861 , Developmental delay and seizures with or without movement abnormalities, 617836, Retinitis pigmentosa, 613861; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DHCR7 Tracy Lester reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: 20052364; Phenotypes: Smith-Lemli-Opitz syndrome, 270400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DENND5A Tracy Lester reviewed gene: DENND5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27866705, 27431290 ; Phenotypes: pileptic encephalopathy early infantile, 617281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DEAF1 Tracy Lester reviewed gene: DEAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26048982; Phenotypes: ?Dyskinesia, seizures, and intellectual developmental disorder 617171, Mental retardation autosomal dominant, 615828; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 DDX3X Tracy Lester reviewed gene: DDX3X: Rating: GREEN; Mode of pathogenicity: ; Publications: 26235985; Phenotypes: Mental retardation, 300958; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 DCX Tracy Lester reviewed gene: DCX: Rating: GREEN; Mode of pathogenicity: ; Publications: 12034802, 19098909 ; Phenotypes: Lissencephaly, 300067, Subcortical laminal heterotopia, 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 D2HGDH Tracy Lester reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 15609246, 26178471 ; Phenotypes: D-2-hydroxyglutaric aciduria, 600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CTSD Tracy Lester reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: 16670177; Phenotypes: Ceroid lipofuscinosis, neuronal, 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CSTB Tracy Lester reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 8596935, 17003839 ; Phenotypes: Epilepsy progressive myoclonic 1A (Unverricht and Lundborg), 254800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CREBBP Tracy Lester reviewed gene: CREBBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 12566391, 25599811; Phenotypes: Rubinstein-Taybi syndrome, 180849; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 COQ9 Tracy Lester reviewed gene: COQ9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26081641; Phenotypes: Coenzyme Q10 deficiency primary, 614654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 COQ4 Tracy Lester reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25658047; Phenotypes: Coenzyme Q10 deficiency primary, 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 COQ2 Tracy Lester reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17855635; Phenotypes: Coenzyme Q10 deficiency primary, 607426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 COL4A2 Tracy Lester reviewed gene: COL4A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22209246; Phenotypes: Porencephaly, 614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 COL4A1 Tracy Lester reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23225343; Phenotypes: Retinal arteries tortuosity of 180000, Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773, Brain small vessel disease with or without ocular anomalies, 607595, Porencephaly, 175780, Schizencephaly 269160; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 COL18A1 Tracy Lester reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19160445; Phenotypes: Knobloch syndrome, 267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 COG7 Tracy Lester reviewed gene: COG7: Rating: GREEN; Mode of pathogenicity: ; Publications: 17395513; Phenotypes: Congenital disorder of glycosylation, 608779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CNNM2 Tracy Lester reviewed gene: CNNM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24699222; Phenotypes: Hypomagnesemia renal, 613882, Hypomagnesemia, seizures, and mental retardation 616418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CLN3 Tracy Lester reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: 7553855; Phenotypes: Ceroid lipofuscinosis neuronal, 204200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CLCN4 Tracy Lester reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27550844; Phenotypes: Raynaud-Claes syndrome, 300114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 CC2D2A Tracy Lester reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22241855; Phenotypes: COACH syndrome 216360, Joubert syndrome, 612285, Meckel syndrome, 612284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CASK Tracy Lester reviewed gene: CASK: Rating: GREEN; Mode of pathogenicity: ; Publications: 21954287; Phenotypes: FG syndrome, 300422 , Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749, Mental retardation with or without nystagmus, 300422; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 CAD Tracy Lester reviewed gene: CAD: Rating: GREEN; Mode of pathogenicity: ; Publications: 28007989; Phenotypes: Epileptic encephalopathy early infantile, 616457; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CACNA1G Tracy Lester reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: 17397049, 29878067 ; Phenotypes: Spinocerebellar ataxia, 616795, Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CACNA1E Tracy Lester reviewed gene: CACNA1E: Rating: GREEN; Mode of pathogenicity: ; Publications: 30343943; Phenotypes: Epileptic encephalopathy, early infantile, 618285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CACNA1A Tracy Lester reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 11061267, 25735478; Phenotypes: Epileptic encephalopathy early infantile, 42 617106, Episodic ataxia, 108500, Migraine, familial hemiplegic, 141500, Migraine, familial hemiplegic, with progressive cerebellar ataxia 141500, Spinocerebellar ataxia,183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 C12orf57 Tracy Lester reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: ; Publications: 23453666; Phenotypes: Temtamy syndrome, 218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 BTD Tracy Lester reviewed gene: BTD: Rating: GREEN; Mode of pathogenicity: ; Publications: 24075304, 25423671 ; Phenotypes: Biotinidase deficiency, 253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 BRAF Tracy Lester reviewed gene: BRAF: Rating: GREEN; Mode of pathogenicity: ; Publications: 19206169, 18042262; Phenotypes: Adenocarcinoma of lung, somatic 211980, Cardiofaciocutaneous syndrome, 115150, Colorectal cancer, somatic, LEOPARD syndrome, 613707, Melanoma, malignant, somatic, Nonsmall cell lung cancer, somatic, Noonan syndrome, 613706; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 BOLA3 Tracy Lester reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 24334290; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 BCS1L Tracy Lester reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: ; Publications: 11528392; Phenotypes: Bjornstad syndrome, 262000, GRACILE syndrome, 603358, Leigh syndrome, 256000, Mitochondrial complex III deficiency, 124000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 BCKDHB Tracy Lester reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: 28919799; Phenotypes: Maple syrup urine disease, 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 BCKDHA Tracy Lester reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28919799; Phenotypes: Maple syrup urine disease, 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ATP7A Tracy Lester reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: 7842019, 21924848 ; Phenotypes: Menkes disease, 309400, Occipital horn syndrome, 304150, Spinal muscular atrophy, distal, 300489; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 ATP6V1A Tracy Lester reviewed gene: ATP6V1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29668857; Phenotypes: Cutis laxa, type IID, 617403, Epileptic encephalopathy, infantile or early childhood, 618012; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ATP1A1 Tracy Lester reviewed gene: ATP1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388404; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2DD, 618036; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 ASPA Tracy Lester reviewed gene: ASPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1643757; Phenotypes: Canavan disease, 271900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ARV1 Tracy Lester reviewed gene: ARV1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25558065, 27270415; Phenotypes: Epileptic encephalopathy, early infantile, 617020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ARID1B Tracy Lester reviewed gene: ARID1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 22405089; Phenotypes: Coffin-Siris syndrome, 135900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 ARG1 Tracy Lester reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 2365823, 29726057 ; Phenotypes: Argininemia, 207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ARFGEF2 Tracy Lester reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14647276; Phenotypes: Periventricular heterotopia with microcephaly, 608097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 AP3B2 Tracy Lester reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889060; Phenotypes: Epileptic encephalopathy, early infantile, 617276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 AMT Tracy Lester reviewed gene: AMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 25231368; Phenotypes: Glycine encephalopathy, 605899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 AMPD2 Tracy Lester reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28815207, 23911318 ; Phenotypes: ?Spastic paraplegia 63 615686, Pontocerebellar hypoplasia, 615809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ALPL Tracy Lester reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: ; Publications: 3350970, 7550313 ; Phenotypes: Hypophosphatasia, adult 146300, Hypophosphatasia, childhood 241510, Hypophosphatasia, infantile 241500, Odontohypophosphatasia, 146300, ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ALG9 Tracy Lester reviewed gene: ALG9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, 608776, Gillessen-Kaesbach-Nishimura syndrome, 263210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ALG8 Tracy Lester reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ih 608104, Polycystic liver disease 3 with or without kidney cysts 617874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ALG6 Tracy Lester reviewed gene: ALG6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, 603147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ALG3 Tracy Lester reviewed gene: ALG3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, 601110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ALG1 Tracy Lester reviewed gene: ALG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20679665; Phenotypes: Congenital disorder of glycosylation, type Ik, 608540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ALDH5A1 Tracy Lester reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14635103; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 AKT3 Tracy Lester reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21159799, 22729224 ; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 615937; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 AKT1 Tracy Lester reviewed gene: AKT1: Rating: RED; Mode of pathogenicity: ; Publications: 25722288; Phenotypes: Breast cancer, somatic, 114480, Colorectal cancer, somatic, 114500, Cowden syndrome, 615109, Ovarian cancer, somatic, 167000, Proteus syndrome, somatic 176920, {Schizophrenia, susceptibility to} 181500; Mode of inheritance:
Early onset or syndromic epilepsy v1.188 AIMP1 Tracy Lester reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24958424, 21092922 ; Phenotypes: Leukodystrophy, hypomyelinating, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ADPRHL2 Tracy Lester reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30100084; Phenotypes: Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, 618170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ADGRG1 Tracy Lester reviewed gene: ADGRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15044805, ; Phenotypes: Polymicrogyria, bilateral frontoparietal, 606854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ADAR Tracy Lester reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: 27937139, 24011626 ; Phenotypes: Aicardi-Goutieres syndrome, 615010, Dyschromatosis symmetrica hereditaria, 127400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ACOX1 Tracy Lester reviewed gene: ACOX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18536048; Phenotypes: Peroxisomal acyl-CoA oxidase deficiency, 264470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ABAT Tracy Lester reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 10407778, 27903293 ; Phenotypes: GABA-transaminase deficiency, 613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ZEB2 Tracy Lester reviewed gene: ZEB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16532472, 23466526 ; Phenotypes: Mowat-Wilson syndrome, 235730; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 WWOX Tracy Lester reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 24369382, 24456803 ; Phenotypes: pileptic encephalopathy, early infantile, 616211, Esophageal squamous cell carcinoma, somatic 133239, Spinocerebellar ataxia 12 614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 WDR45B Tracy Lester reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: 28503735; Phenotypes: Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 WDR45 Tracy Lester reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176820; Phenotypes: Neurodegeneration with brain iron accumulation, 300894; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 UBE3A Tracy Lester reviewed gene: UBE3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28297715, 11748306 ; Phenotypes: Angelman syndrome, 105830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Early onset or syndromic epilepsy v1.188 UBE2A Tracy Lester reviewed gene: UBE2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 16909393, 24053514 ; Phenotypes: Mental retardation, X-linked syndromic, Nascimento-type, 300860; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 TRPM6 Tracy Lester reviewed gene: TRPM6: Rating: GREEN; Mode of pathogenicity: ; Publications: 12032568; Phenotypes: Hypomagnesemia 1, intestinal, 602014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TRAK1 Tracy Lester reviewed gene: TRAK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28364549; Phenotypes: Epileptic encephalopathy, early infantile, 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TPP1 Tracy Lester reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17959406, 10665500, 20820830 ; Phenotypes: eroid lipofuscinosis, neuronal, 204500, Spinocerebellar ataxia, 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 TCF4 Tracy Lester reviewed gene: TCF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 19938247; Phenotypes: Corneal dystrophy, Fuchs endothelial, 613267, Pitt-Hopkins syndrome, 610954; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 TBC1D24 Tracy Lester reviewed gene: TBC1D24: Rating: GREEN; Mode of pathogenicity: ; Publications: 27281533; Phenotypes: Deafness , 614617, Deafness, 616044, DOORS syndrome 220500, Epileptic encephalopathy, early infantile, 615338, Myoclonic epilepsy, infantile, familial 605021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SZT2 Tracy Lester reviewed gene: SZT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23932106, 24324832 ; Phenotypes: Epileptic encephalopathy, early infantile, 615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SYNJ1 Tracy Lester reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27435091; Phenotypes: Epileptic encephalopathy, early infantile, 617389, Parkinson disease 20, early-onset, 615530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SYNGAP1 Tracy Lester reviewed gene: SYNGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23708187; Phenotypes: Mental retardation, 612621; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SUOX Tracy Lester reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 28725568; Phenotypes: Sulfite oxidase deficiency, 272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 STXBP1 Tracy Lester reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 18469812, 19557857 ; Phenotypes: Epileptic encephalopathy, early infantile, 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 STX1B Tracy Lester reviewed gene: STX1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25362483; Phenotypes: Generalized epilepsy with febrile seizures plus, 616172; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 STRADA Tracy Lester reviewed gene: STRADA: Rating: GREEN; Mode of pathogenicity: ; Publications: 17522105, 23616120, 27170158 ; Phenotypes: Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SPTAN1 Tracy Lester reviewed gene: SPTAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20493457, 22258530 ; Phenotypes: Epileptic encephalopathy, early infantile, 613477; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SLC9A6 Tracy Lester reviewed gene: SLC9A6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20395263, 24123876 ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 SLC6A19 Tracy Lester reviewed gene: SLC6A19: Rating: AMBER; Mode of pathogenicity: ; Publications: 24596948 , 15592994; Phenotypes: Hartnup disorder,234500, Hyperglycinuria,138500, Iminoglycinuria, digenic,242600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SLC6A1 Tracy Lester reviewed gene: SLC6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25865495; Phenotypes: Myoclonic-atonic epilepsy, 616421; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SLC35A2 Tracy Lester reviewed gene: SLC35A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23561849, 24115232 ; Phenotypes: Congenital disorder of glycosylation, type Iim, 300896; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20129935; Phenotypes: Dystonia 9,601042, GLUT1 deficiency syndrome 1, infantile onset, severe,606777, GLUT1 deficiency syndrome 2, childhood onset,612126, Stomatin-deficient cryohydrocytosis with neurologic defects,608885, {Epilepsy, idiopathic generalized, susceptibility to, 12},614847; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SLC25A22 Tracy Lester reviewed gene: SLC25A22: Rating: GREEN; Mode of pathogenicity: ; Publications: 19780765, 24596948 , 15592994; Phenotypes: Epileptic encephalopathy, early infantile, 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SLC25A1 Tracy Lester reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29226520, 23561848 ; Phenotypes: ?Myasthenic syndrome, congenital, 23, presynaptic 618197, Combined D-2- and L-2-hydroxyglutaric aciduria, 615182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SLC1A2 Tracy Lester reviewed gene: SLC1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27476654, 28777935 ; Phenotypes: Epileptic encephalopathy, early infantile, 617105; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SLC16A2 Tracy Lester reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27212794; Phenotypes: Allan-Herndon-Dudley syndrome, 300523; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 SLC13A5 Tracy Lester reviewed gene: SLC13A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24995870; Phenotypes: Epileptic encephalopathy, early infantile, 615905; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SLC12A5 Tracy Lester reviewed gene: SLC12A5: Rating: GREEN; Mode of pathogenicity: ; Publications: 26333769, 27436767 ; Phenotypes: Epileptic encephalopathy, early infantile, 616645, {Epilepsy, idiopathic generalized, susceptibility to}, 616685 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SIK1 Tracy Lester reviewed gene: SIK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25839329; Phenotypes: Epileptic encephalopathy, early infantile, 616341; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SETD5 Tracy Lester reviewed gene: SETD5: Rating: AMBER; Mode of pathogenicity: ; Publications: 25138099, 24680889 ; Phenotypes: Mental retardation, 615761; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SCN9A Tracy Lester reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: 19763161, 23895530 ; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 7,613863, Erythermalgia, primary,133020, Febrile seizures, familial,613863, HSAN2D,243000, Insensitivity to pain, congenital,243000, Paroxysmal extreme pain disorder,167400, Small fiber neuropathy,133020; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SCN8A Tracy Lester reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22365152, 24194747 ; Phenotypes: ?Cognitive impairment with or without cerebellar ataxia,614306, Epileptic encephalopathy, early infantile,614558, Seizures, benign familial infantile,617080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SCN2A Tracy Lester reviewed gene: SCN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23935176, 28256214 ; Phenotypes: Epileptic encephalopathy, early infantile,613721, Seizures, benign familial infantile,607745; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SCN1B Tracy Lester reviewed gene: SCN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: 23148524, 19710327, 17020904 ; Phenotypes: Atrial fibrillation, familial,615377, Brugada syndrome,612838, Cardiac conduction defect, nonspecific,612838, Epilepsy, generalized, with febrile seizures plus, type 1,604233, Epileptic encephalopathy, early infantile, 52,617350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 SCN1A Tracy Lester reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 12821740; Phenotypes: Epilepsy, generalized, with febrile seizures plus,604403, Epileptic encephalopathy, early infantile, (Dravet syndrome),607208, Febrile seizures, familial,604403, Migraine, familial hemiplegic,609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 SCARB2 Tracy Lester reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18308289, 22032306 ; Phenotypes: Epilepsy, progressive myoclonic 4, with or without renal failure,254900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 RANBP2 Tracy Lester reviewed gene: RANBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 19118815; Phenotypes: {Encephalopathy, acute, infection-induced, 3, susceptibility to} 608033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 QARS Tracy Lester reviewed gene: QARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 24656866, 25432320 ; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, 615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PURA Tracy Lester reviewed gene: PURA: Rating: GREEN; Mode of pathogenicity: ; Publications: 25439098; Phenotypes: Mental retardation, 616158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 PRRT2 Tracy Lester reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23077018, 24101679, 22832103 ; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis,602066, Episodic kinesigenic dyskinesia,128200, Seizures, benign familial infantile,605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 PRODH Tracy Lester reviewed gene: PRODH: Rating: AMBER; Mode of pathogenicity: ; Publications: 12217952, ; Phenotypes: Hyperprolinemia, type I, 239500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 POLG Tracy Lester reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: 1663941, 19578034 ; Phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type),203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type),613662, Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE),607459, Progressive external ophthalmoplegia,157640, Progressive external ophthalmoplegia,258450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PNPO Tracy Lester reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: ; Publications: 26535729, 15772097 ; Phenotypes: Pyridoxamine 5'-phosphate oxidase deficiency, 610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PNKP Tracy Lester reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: ; Publications: 20118933; Phenotypes: Ataxia-oculomotor apraxia,616267, Microcephaly, seizures, and developmental delay,613402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PLPBP Tracy Lester reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 27912044, 28391250 ; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PLCB1 Tracy Lester reviewed gene: PLCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20833646, 24684524, 26818157 ; Phenotypes: Epileptic encephalopathy, early infantile, 613722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PIGT Tracy Lester reviewed gene: PIGT: Rating: GREEN; Mode of pathogenicity: ; Publications: 24906948, 23636107 ; Phenotypes: ?Paroxysmal nocturnal hemoglobinuria,615399, Multiple congenital anomalies-hypotonia-seizures syndrome,615398; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PIGN Tracy Lester reviewed gene: PIGN: Rating: GREEN; Mode of pathogenicity: ; Publications: 24253414, 21493957 ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome, 614080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 PIGA Tracy Lester reviewed gene: PIGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 25885527, 29656098 ; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome,300868, Paroxysmal nocturnal hemoglobinuria, somatic,300818; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 PCDH19 Tracy Lester reviewed gene: PCDH19: Rating: GREEN; Mode of pathogenicity: ; Publications: 19752159; Phenotypes: Epileptic encephalopathy, early infantile, 300088; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 NEXMIF Tracy Lester reviewed gene: NEXMIF: Rating: GREEN; Mode of pathogenicity: ; Publications: 23615299, 27358180 ; Phenotypes: Mental retardation, X-linked, 300912; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 NACC1 Tracy Lester reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28132692; Phenotypes: Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 MTOR Tracy Lester reviewed gene: MTOR: Rating: GREEN; Mode of pathogenicity: ; Publications: 26542245, 28892148 ; Phenotypes: Focal cortical dysplasia, type II, somatic,607341, Smith-Kingsmore syndrome,616638; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 MOGS Tracy Lester reviewed gene: MOGS: Rating: GREEN; Mode of pathogenicity: ; Publications: 24716661, 30587846 ; Phenotypes: Congenital disorder of glycosylation, type Iib, 606056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MFF Tracy Lester reviewed gene: MFF: Rating: GREEN; Mode of pathogenicity: ; Publications: 22499341, 26783368 ; Phenotypes: Encephalopathy due to defective mitochondrial and peroxisomal fission, 617086; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MEF2C Tracy Lester reviewed gene: MEF2C: Rating: GREEN; Mode of pathogenicity: ; Publications: 20513142; Phenotypes: chromosome 5q14.3 deletion syndrome,613443, Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations,613443; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 MECP2 Tracy Lester reviewed gene: MECP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30425922, 21916843, 17387578 ; Phenotypes: Encephalopathy, neonatal severe,300673, Mental retardation, X-linked syndromic, Lubs type,300260, Mental retardation, X-linked, syndromic 13,300055, Rett syndrome,312750, Rett syndrome, atypical,312750, Rett syndrome, preserved speech variant,312750, {Autism susceptibility, X-linked 3},300496; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 MDH2 Tracy Lester reviewed gene: MDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27989324; Phenotypes: Epileptic encephalopathy, early infantile, 617339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MBOAT7 Tracy Lester reviewed gene: MBOAT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 27616480; Phenotypes: Mental retardation, 617188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 MBD5 Tracy Lester reviewed gene: MBD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 23422940; Phenotypes: Mental retardation, 156200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 LGI1 Tracy Lester reviewed gene: LGI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11810107; Phenotypes: Epilepsy, familial temporal lobe, 600512; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KIF1BP Tracy Lester reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: ; Publications: 23427148; Phenotypes: Goldberg-Shprintzen megacolon syndrome, 609460; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 KCTD7 Tracy Lester reviewed gene: KCTD7: Rating: GREEN; Mode of pathogenicity: ; Publications: 22693283; Phenotypes: Epilepsy, progressive myoclonic , with or without intracellular inclusions, 611726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 KCNT1 Tracy Lester reviewed gene: KCNT1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 23086397, 26122718; Phenotypes: Epilepsy, nocturnal frontal lobe, 615005, Epileptic encephalopathy, early infantile, 614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KCNQ3 Tracy Lester reviewed gene: KCNQ3: Rating: GREEN; Mode of pathogenicity: ; Publications: 14534157; Phenotypes: Seizures, benign neonatal, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KCNQ2 Tracy Lester reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27602407, 14534157 ; Phenotypes: Epileptic encephalopathy, early infantile, 613720, Myokymia, 121200, Seizures, benign neonatal, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KCNJ10 Tracy Lester reviewed gene: KCNJ10: Rating: GREEN; Mode of pathogenicity: ; Publications: 19420365; Phenotypes: Enlarged vestibular aqueduct, digenic, 600791, SESAME syndrome 612780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 KCNC1 Tracy Lester reviewed gene: KCNC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25401298; Phenotypes: Epilepsy, progressive myoclonic, 616187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KCNB1 Tracy Lester reviewed gene: KCNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25164438, 29264397 ; Phenotypes: Epileptic encephalopathy, 616056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 KCNA2 Tracy Lester reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25751627, 28032718 ; Phenotypes: Epileptic encephalopathy,616366; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 ITPA Tracy Lester reviewed gene: ITPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 26224535, 27770805 ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 IQSEC2 Tracy Lester reviewed gene: IQSEC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26793055, 23674175 ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 IER3IP1 Tracy Lester reviewed gene: IER3IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21835305, 24138066 ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 IDH2 Tracy Lester reviewed gene: IDH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 HTRA2 Tracy Lester reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27696117, 27208207 ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 HNRNPU Tracy Lester reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: 27652284; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 HNRNPH2 Tracy Lester reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27545675; Phenotypes: Mental retardation, X-linked, syndromic, Bain type,300986; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 HMGCL Tracy Lester reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: ; Publications: 28583327; Phenotypes: HMG-CoA lyase deficiency,246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 HECW2 Tracy Lester reviewed gene: HECW2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27389779; Phenotypes: Neurodevelopmental disorder with hypotonia, seizures, and absent language, 617268; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 HCN1 Tracy Lester reviewed gene: HCN1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 24747641, 25678871; Phenotypes: Epileptic encephalopathy, early infantile, 24,615871; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GSS Tracy Lester reviewed gene: GSS: Rating: AMBER; Mode of pathogenicity: ; Publications: 26984560; Phenotypes: Glutathione synthetase deficiency,266130, Hemolytic anemia due to glutathione synthetase deficiency,231900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GRIN2B Tracy Lester reviewed gene: GRIN2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 20890276; Phenotypes: Epileptic encephalopathy, early infantile, 27,616139, Mental retardation 6,613970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GRIN2A Tracy Lester reviewed gene: GRIN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 20890276; Phenotypes: Epilepsy, focal, with speech disorder and with or without mental retardation,245570; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GRIN1 Tracy Lester reviewed gene: GRIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27164704; Phenotypes: Neurodevelopmental disorder with or without hyperkinetic movements and seizures,614254, Neurodevelopmental disorder with or without hyperkinetic movements and seizures,617820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GPAA1 Tracy Lester reviewed gene: GPAA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100095; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15,617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GNAO1 Tracy Lester reviewed gene: GNAO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23993195, 28357411 ; Phenotypes: Epileptic encephalopathy, early infantile, 17,615473, Neurodevelopmental disorder with involuntary movements,617493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GLYCTK Tracy Lester reviewed gene: GLYCTK: Rating: AMBER; Mode of pathogenicity: ; Publications: 30637540; Phenotypes: D-glyceric aciduria,220120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 GABRG2 Tracy Lester reviewed gene: GABRG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11748509, 27066572 ; Phenotypes: Epilepsy, generalized, with febrile seizures plus, type 3,611277, Febrile seizures, familial, 8,611277, {Epilepsy, childhood absence, susceptibility to, 2},607681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GABRB3 Tracy Lester reviewed gene: GABRB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 18514161, 27476654 ; Phenotypes: Epileptic encephalopathy, early infantile, 43,617113, {Epilepsy, childhood absence, susceptibility to, 5},612269; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GABRA1 Tracy Lester reviewed gene: GABRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24623842, 27521439; Phenotypes: Epileptic encephalopathy, early infantile, 19,615744, {Epilepsy, childhood absence, susceptibility to, 4},611136, {Epilepsy, juvenile myoclonic, susceptibility to, 5},611136; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 GABBR2 Tracy Lester reviewed gene: GABBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28856709, 29100083 ; Phenotypes: Epileptic encephalopathy, early infantile, 59,617904, Neurodevelopmental disorder with poor language and loss of hand skills,617903, {Nicotine dependence, protection against},188890, {Nicotine dependence, susceptibility to},188890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 FOXG1 Tracy Lester reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30533527; Phenotypes: Rett syndrome, congenital variant,613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 EPM2A Tracy Lester reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 11175283; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora),254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 EPG5 Tracy Lester reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 25331754; Phenotypes: Vici syndrome,242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 EML1 Tracy Lester reviewed gene: EML1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24859200; Phenotypes: Band heterotopia,600348; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 EHMT1 Tracy Lester reviewed gene: EHMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16826528, 19264732; Phenotypes: Kleefstra syndrome 1,610253; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 DYRK1A Tracy Lester reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 23099646, 21294719 ; Phenotypes: Mental retardation 7,614104; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 DPYD Tracy Lester reviewed gene: DPYD: Rating: GREEN; Mode of pathogenicity: ; Publications: 28275972, 19296131 ; Phenotypes: 5-fluorouracil toxicity,274270, Dihydropyrimidine dehydrogenase deficiency,274270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DOCK7 Tracy Lester reviewed gene: DOCK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 24814191, ; Phenotypes: Epileptic encephalopathy, early infantile, 23,615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DNM1 Tracy Lester reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25262651, 27066543 ; Phenotypes: Epileptic encephalopathy, early infantile, 31,616346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 DIAPH1 Tracy Lester reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26463574, 24781755 ; Phenotypes: Deafness 1,124900, Seizures, cortical blindness, microcephaly syndrome,616632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 DEPDC5 Tracy Lester reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9851433, 23542697 ; Phenotypes: Epilepsy, familial focal, with variable foci 1,604364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CYFIP2 Tracy Lester reviewed gene: CYFIP2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 29534297, ; Phenotypes: Epileptic encephalopathy, early infantile, 65,618008; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CPA6 Tracy Lester reviewed gene: CPA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 23105115, 21922598 ; Phenotypes: Epilepsy, familial temporal lobe, 5,614417, Febrile seizures, familial, 11,614418; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CNTNAP2 Tracy Lester reviewed gene: CNTNAP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 16571880, 18179893, 27439707 ; Phenotypes: Cortical dysplasia-focal epilepsy syndrome,610042, Pitt-Hopkins like syndrome 1,610042, {Autism susceptibility 15},612100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CNKSR2 Tracy Lester reviewed gene: CNKSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28098945, 25223753 ; Phenotypes: Mental retardation, X-linked, syndromic, Houge type,301008; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 CLTC Tracy Lester reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 29100083, 26822784 ; Phenotypes: Mental retardation 56,617854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CLN8 Tracy Lester reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: 10508524, ; Phenotypes: Ceroid lipofuscinosis, neuronal, 8,600143, Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant,610003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 CIC Tracy Lester reviewed gene: CIC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28288114; Phenotypes: Mental retardation 45,617600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CHRNB2 Tracy Lester reviewed gene: CHRNB2: Rating: GREEN; Mode of pathogenicity: loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 11104662, 25717303 ; Phenotypes: Epilepsy, nocturnal frontal lobe, 3,605375; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CHRNA4 Tracy Lester reviewed gene: CHRNA4: Rating: GREEN; Mode of pathogenicity: loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 29454195, 21753767 ; Phenotypes: Epilepsy, nocturnal frontal lobe, 1,600513, {Nicotine addiction, susceptibility to},188890; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CHRNA2 Tracy Lester reviewed gene: CHRNA2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 16826524 , 25770198 ; Phenotypes: Epilepsy, nocturnal frontal lobe, type 4,610353; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CHD2 Tracy Lester reviewed gene: CHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23020937, 23708187 ; Phenotypes: Epileptic encephalopathy, childhood-onset,615369; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 CDKL5 Tracy Lester reviewed gene: CDKL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 15492925, 17993579 ; Phenotypes: Epileptic encephalopathy, early infantile, 2,300672; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 CACNA1D Tracy Lester reviewed gene: CACNA1D: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 23913001 , 28472301 ; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities,615474, Sinoatrial node dysfunction and deafness,614896; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 BSCL2 Tracy Lester reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23564749, ; Phenotypes: Lipodystrophy, congenital generalized, type 2,269700, Neuropathy, distal hereditary motor, type VA,600794, Silver spastic paraplegia syndrome,270685, Encephalopathy, progressive, with or without lipodystrophy,615924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 BRAT1 Tracy Lester reviewed gene: BRAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26483087, 27282546 ; Phenotypes: Rigidity and multifocal seizure syndrome, lethal neonatal, 614498, Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ATRX Tracy Lester reviewed gene: ATRX: Rating: GREEN; Mode of pathogenicity: ; Publications: 16722615; Phenotypes: Alpha-thalassemia myelodysplasia syndrome, somatic, 300448, Alpha-thalassemia/mental retardation syndrome, 301040, Mental retardation-hypotonic facies syndrome, X-linked,309580; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 ATP6V0A2 Tracy Lester reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18157129, 22773132 ; Phenotypes: Cutis laxa, type IIA,219200, Wrinkly skin syndrome,278250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ATP1A3 Tracy Lester reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments; Publications: 25656163, 24739246, 29291920, 30392841 ; Phenotypes: Alternating hemiplegia of childhood 2, 614820, CAPOS syndrome,601338, Dystonia-12, 128235; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.188 ARX Tracy Lester reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: ; Publications: 17490853, 17668384, 18462864 ; Phenotypes: Epileptic encephalopathy, early infantile, 1, 308350, Hydranencephaly with abnormal genitalia,300215 , Lissencephaly, X-linked 2, 300215, Mental retardation, X-linked 29, 300419, Partington syndrome,309510, Proud syndrome, 300004; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.188 ARHGEF9 Tracy Lester reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: ; Publications: 21633362, 15215304 ; Phenotypes: Epileptic encephalopathy, early infantile, 8, 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 ALG13 Tracy Lester reviewed gene: ALG13: Rating: GREEN; Mode of pathogenicity: ; Publications: 23033978, 24501762; Phenotypes: Epileptic encephalopathy, early infantile, 36, 300884, ?Congenital disorder of glycosylation, type Is, 300884; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Early onset or syndromic epilepsy v1.188 ALG11 Tracy Lester reviewed gene: ALG11: Rating: GREEN; Mode of pathogenicity: ; Publications: 20080937, 22213132 ; Phenotypes: Congenital disorder of glycosylation, type Ip, 613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ALDH7A1 Tracy Lester reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17068770, 17721876; Phenotypes: Epilepsy, pyridoxine-dependent, 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 ADSL Tracy Lester reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: ; Publications: 10090474, 12016589; Phenotypes: Adenylosuccinase deficiency, 103050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.188 AARS Tracy Lester reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25817015, 28493438 ; Phenotypes: Charcot-Marie-Tooth disease, 613287, Early Infantile Epileptic encephalopathy, 601065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Limb disorders v1.35 NXN Eleanor Williams changed review comment from: Not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 29276006 - White et al 2018 - report 2 families with biallelic variants in NXN that co-segregate with Robinow syndrome. Family 1 - the proband has a several phenotypic features including the limb phenotypes of brachydactyly and mesomelic shortening, fifth finger brachydactyly and clinodactyly and broad thumbs and great toes. Family 2 - although her overall length was in the normal range, she had the appearance of short limbs and she had an unusual pattern of hand and foot development with brachydactyly and incurving of her fingers towards the middle finger. There was a wide sandal gap and the same clinodactyly pattern in her feet. Other craniofacial features were also present. A younger sibling was remarkably alike in terms of facial features and limb patterning.; to: Not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 29276006 - White et al 2018 - report 2 families with biallelic variants in NXN that co-segregate with Robinow syndrome. Family 1 - the proband has a several phenotypic features including the limb phenotypes of brachydactyly and mesomelic shortening, fifth finger brachydactyly and clinodactyly and broad thumbs and great toes. A homozygous stopgain variant in NXN c.625C>T [p.Arg209∗] was found to be inherited from consanguineous parents. Family 2 - although the overall length of the proband was in the normal range, she had the appearance of short limbs and she had an unusual pattern of hand and foot development with brachydactyly and incurving of her fingers towards the middle finger. There was a wide sandal gap and the same clinodactyly pattern in her feet. Other craniofacial features were also present. A younger sibling was remarkably alike in terms of facial features and limb patterning. The siblings shared compound heterozygous biallelic variants in NXN: a maternally inherited in-frame 3-bp deletion (c.1234_1236del [p.Glu412del]) and a paternally inherited intragenic 84-kb deletion that encompasses the entire first exon chr17:g.805043::GAGG…..AATG::889090).
Limb disorders v1.35 NXN Eleanor Williams Added comment: Comment on mode of inheritance: 2 cases to date are biallelic
Limb disorders v1.35 NXN Eleanor Williams Mode of inheritance for gene: NXN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Limb disorders v1.34 NXN Eleanor Williams Phenotypes for gene: NXN were changed from to Robinow syndrome
Limb disorders v1.33 NXN Eleanor Williams commented on gene: NXN: Not associated with any phenotype in OMIM or Gene2Phenotype.

PMID: 29276006 - White et al 2018 - report 2 families with biallelic variants in NXN that co-segregate with Robinow syndrome. Family 1 - the proband has a several phenotypic features including the limb phenotypes of brachydactyly and mesomelic shortening, fifth finger brachydactyly and clinodactyly and broad thumbs and great toes. Family 2 - although her overall length was in the normal range, she had the appearance of short limbs and she had an unusual pattern of hand and foot development with brachydactyly and incurving of her fingers towards the middle finger. There was a wide sandal gap and the same clinodactyly pattern in her feet. Other craniofacial features were also present. A younger sibling was remarkably alike in terms of facial features and limb patterning.
Adult solid tumours cancer susceptibility v1.6 VHL Israel Gomy reviewed gene: VHL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: VON HIPPEL-LINDAU (VHL) SYNDROME, OMIM 193300; Mode of inheritance: None
Childhood solid tumours cancer susceptibility v1.4 VHL Israel Gomy reviewed gene: VHL: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: VON HIPPEL-LINDAU (VHL) SYNDROME, OMIM 193300; Mode of inheritance: None
Limb disorders v1.33 NXN Eleanor Williams Publications for gene: NXN were set to
Limb disorders v1.32 FZD2 Eleanor Williams Phenotypes for gene: FZD2 were changed from to Omodysplasia 2, 164745; Robinow syndrome
Limb disorders v1.31 FZD2 Eleanor Williams Publications for gene: FZD2 were set to 29276006
Likely inborn error of metabolism v1.76 WARS2 Sarah Leigh Source Expert Review Green was added to WARS2.
Mode of inheritance for gene WARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2
Publications for gene WARS2 were changed from to 28650581; 28905505; 28236339
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 UQCRB Sarah Leigh Source Expert Review Green was added to UQCRB.
Added phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158 for gene: UQCRB
Publications for gene UQCRB were changed from 27604308 to 25446085; 28604960; 12709789; 23454382
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 TUFM Sarah Leigh Source Expert Review Green was added to TUFM.
Added phenotypes Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM
Publications for gene TUFM were changed from 27604308 to 26741492; 17160893; 25735936; 28132884
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 TRMT5 Sarah Leigh Source Expert Review Green was added to TRMT5.
Added phenotypes Combined oxidative phosphorylation deficiency 26 616539 for gene: TRMT5
Publications for gene TRMT5 were changed from PMID: 26189817 to 29021354; 26189817
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 TRMT10C Sarah Leigh Source Expert Review Green was added to TRMT10C.
Mode of inheritance for gene TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 30, 616974 for gene: TRMT10C
Publications for gene TRMT10C were changed from to 27132592
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 TRIT1 Sarah Leigh Source Expert Review Green was added to TRIT1.
Mode of inheritance for gene TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 35 617873 for gene: TRIT1
Publications for gene TRIT1 were changed from to 24901367; 28185376
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 TOP3A Sarah Leigh gene: TOP3A was added
gene: TOP3A was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: TOP3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOP3A were set to 29290614
Phenotypes for gene: TOP3A were set to ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098
Likely inborn error of metabolism v1.76 TMEM126B Sarah Leigh Source Expert Review Green was added to TMEM126B.
Added phenotypes Isolated complex I deficiency for gene: TMEM126B
Publications for gene TMEM126B were changed from 27374774 to 27374773; 27374774
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 TIMM50 Sarah Leigh Source Expert Review Green was added to TIMM50.
Added phenotypes 3-methylglutaconic aciduria, type IX 617698 for gene: TIMM50
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 SLC25A42 Sarah Leigh Source Expert Review Green was added to SLC25A42.
Mode of inheritance for gene SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416; mitochondrial myopathy for gene: SLC25A42
Publications for gene SLC25A42 were changed from to 26541337; 29923093; 29327420
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 SLC25A12 Sarah Leigh Source Expert Review Green was added to SLC25A12.
Added phenotypes Epileptic encephalopathy, early infantile, 39 612949 for gene: SLC25A12
Publications for gene SLC25A12 were changed from 27604308 to 19641205; 27290639; 24515575
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 SFXN4 Sarah Leigh Source Expert Review Green was added to SFXN4.
Mode of inheritance for gene SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 18, 615578 for gene: SFXN4
Publications for gene SFXN4 were changed from to 24119684
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 RTN4IP1 Sarah Leigh Source Expert Review Green was added to RTN4IP1.
Mode of inheritance for gene RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 for gene: RTN4IP1
Publications for gene RTN4IP1 were changed from to 28638143; 26593267; 29181510
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 QRSL1 Sarah Leigh Source Expert Review Green was added to QRSL1.
Mode of inheritance for gene QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1
Publications for gene QRSL1 were changed from to 29440775; 26741492
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 PNPLA8 Sarah Leigh Source Expert Review Green was added to PNPLA8.
Mode of inheritance for gene PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PNPLA8
Publications for gene PNPLA8 were changed from to 25473036; 25512002; 29681094
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 PMPCB Sarah Leigh gene: PMPCB was added
gene: PMPCB was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: PMPCB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCB were set to 29576218
Phenotypes for gene: PMPCB were set to Multiple mitochondrial dysfunctions syndrome 6, 617954
Likely inborn error of metabolism v1.76 PITRM1 Sarah Leigh Source Expert Review Green was added to PITRM1.
Added phenotypes mental retardation, spinocerebellar ataxia, cognitive decline and psychosis for gene: PITRM1
Publications for gene PITRM1 were changed from PMID: 26697887 to 26697887; 29383861; 29764912
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 PARS2 Sarah Leigh Source Expert Review Green was added to PARS2.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Epileptic encephalopathy, early infantile, 75, 618437; Alpers syndrome for gene: PARS2
Publications for gene PARS2 were changed from PMID: 25629079 (single case) to 28077841; 25629079; 29410512; 29915213
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 NDUFB8 Sarah Leigh Source Expert Review Green was added to NDUFB8.
Mode of inheritance for gene NDUFB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 32, 618252 for gene: NDUFB8
Publications for gene NDUFB8 were changed from to 27290639; 29429571
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 NDUFB3 Sarah Leigh Added phenotypes Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency for gene: NDUFB3
Likely inborn error of metabolism v1.76 NDUFAF8 Sarah Leigh gene: NDUFAF8 was added
gene: NDUFAF8 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF8 were set to 27499296
Phenotypes for gene: NDUFAF8 were set to No OMIM phenotype
Likely inborn error of metabolism v1.76 NDUFA9 Sarah Leigh Source Expert Review Green was added to NDUFA9.
Added phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 for gene: NDUFA9
Publications for gene NDUFA9 were changed from 27604308 to 28671271; 22114105
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 NDUFA6 Sarah Leigh Source Expert Review Green was added to NDUFA6.
Mode of inheritance for gene NDUFA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial complex I deficiency, nuclear type 33, 618253 for gene: NDUFA6
Publications for gene NDUFA6 were changed from to 30245030
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 NDUFA4 Sarah Leigh Source Expert Review Green was added to NDUFA4.
Mode of inheritance for gene NDUFA4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Isolated complex IV deficiency; No OMIM phenotype for gene: NDUFA4
Publications for gene NDUFA4 were changed from PMID: 23746447 to 23746447; 29636225
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 NAXE Sarah Leigh Source Expert Review Green was added to NAXE.
Mode of inheritance for gene NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 617186 for gene: NAXE
Publications for gene NAXE were changed from to 27616477; 27290639; 27122014
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 NADK2 Sarah Leigh Source Expert Review Green was added to NADK2.
Mode of inheritance for gene NADK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?2,4-dienoyl-CoA reductase deficiency 616034 for gene: NADK2
Publications for gene NADK2 were changed from to 24847004; 29388319; 27940755
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 MTPAP Sarah Leigh Source Expert Review Green was added to MTPAP.
Added phenotypes ?Spastic ataxia 4, autosomal recessive 613672 for gene: MTPAP
Publications for gene MTPAP were changed from 27604308 to 27959697; 26319014; 25008111; 20970105; 27391121
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 MTFMT Sarah Leigh Source Expert Review Green was added to MTFMT.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 15, 614947; Mitochondrial complex I deficiency, nuclear type 27 618248 for gene: MTFMT
Publications for gene MTFMT were changed from 27604308 to 21907147; 27564080; 23499752; 24461907
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 MRPS2 Sarah Leigh Source Expert Review Green was added to MRPS2.
Mode of inheritance for gene MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 36 617950 for gene: MRPS2
Publications for gene MRPS2 were changed from to 29576219
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 MRPL3 Sarah Leigh Source Expert Review Green was added to MRPL3.
Added phenotypes Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3
Publications for gene MRPL3 were changed from 27604308 to 27815843; 21786366
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 MPC1 Sarah Leigh Source Expert Review Green was added to MPC1.
Mode of inheritance for gene MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mitochondrial pyruvate carrier deficiency, 614741 for gene: MPC1
Publications for gene MPC1 were changed from to 27176894; 22628558; 27835892
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 MIPEP Sarah Leigh gene: MIPEP was added
gene: MIPEP was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to 27799064
Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, 617228
Likely inborn error of metabolism v1.76 MICU1 Sarah Leigh Source Expert Review Green was added to MICU1.
Mode of inheritance for gene MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Myopathy with extrapyramidal signs 615673 for gene: MICU1
Publications for gene MICU1 were changed from to 24336167; 29721912
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 MECR Sarah Leigh Source Expert Review Green was added to MECR.
Mode of inheritance for gene MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 for gene: MECR
Publications for gene MECR were changed from to 27817865
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 LYRM7 Sarah Leigh Source Expert Review Green was added to LYRM7.
Mode of inheritance for gene LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Isolated complex III deficiency; severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle; leukoencephalopathy and complex III deficiency; 615838; Mitochondrial complex III deficiency, nuclear type 8 for gene: LYRM7
Publications for gene LYRM7 were changed from to 27564080; 24014394; 28694194; 27151179; 26912632
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 LIPT2 Sarah Leigh Source Expert Review Green was added to LIPT2.
Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2
Publications for gene LIPT2 were changed from to 28803783; 28757203
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 ISCU Sarah Leigh Source Expert Review Green was added to ISCU.
Mode of inheritance for gene ISCU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Myopathy with lactic acidosis, hereditary, 255125; Disorders of iron homeostasis for gene: ISCU
Publications for gene ISCU were changed from 27604308 to 18304497; 29079705; 18296749; 19567699; 20206689
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 ISCA1 Sarah Leigh gene: ISCA1 was added
gene: ISCA1 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ISCA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ISCA1 were set to 29767723; 28356563
Phenotypes for gene: ISCA1 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613
Likely inborn error of metabolism v1.76 HSD17B10 Sarah Leigh Source Expert Review Green was added to HSD17B10.
Added phenotypes HSD10 mitochondrial disease 300438 for gene: HSD17B10
Publications for gene HSD17B10 were changed from 27604308 to 19706438; 22132097; 12696021; 26950678
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 HARS2 Sarah Leigh Source Expert Review Green was added to HARS2.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Perrault syndrome 2, 614926 for gene: HARS2
Publications for gene HARS2 were changed from 27604308 to 27650058; 21464306
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 GFM2 Sarah Leigh Source Expert Review Green was added to GFM2.
Mode of inheritance for gene GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Early-onset neurological presentations of mitochondrial disease for gene: GFM2
Publications for gene GFM2 were changed from to 22700954; 26016410; 29075935
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 COA7 Sarah Leigh gene: COA7 was added
gene: COA7 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 27683825; 29718187
Likely inborn error of metabolism v1.76 CARS2 Sarah Leigh Source Expert Review Green was added to CARS2.
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); No OMIM phenotype; Combined oxidative phosphorylation deficiency 27 616672 for gene: CARS2
Publications for gene CARS2 were changed from to 25361775; 25787132; 30139652
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.76 C19orf70 Sarah Leigh gene: C19orf70 was added
gene: C19orf70 was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: C19orf70 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf70 were set to 27623147; 29618761; 27485409
Phenotypes for gene: C19orf70 were set to Combined oxidative phosphorylation deficiency 37, 618329
Likely inborn error of metabolism v1.76 ATP5D Sarah Leigh gene: ATP5D was added
gene: ATP5D was added to Inborn errors of metabolism. Sources: Expert Review Green
Mode of inheritance for gene: ATP5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5D were set to 29478781
Phenotypes for gene: ATP5D were set to Mitochondrial complex V (ATP synthase) deficiency, 618120
Limb disorders v1.30 FZD2 Eleanor Williams commented on gene: FZD2: Associated with Omodysplasia 2 (#164745) in OMIM.

Omodysplasia 2:

PMID: 25759469 - Saal et al. 2015 - 1 case - a mother and daughter with omodysplasia were found to have a FZD2 mutation (c.1644G>A, p.Trp548*). The variant was found to have occurred de novo in the mother. The altered protein is still produced in vitro, but is shown to have reduced ability to interact with its downstream target DISHEVELLED. The mother had multiple anomalies, including bilateral cleft lip and cleft palate, short upper extremities, dysmorphic facial features and hypoplastic labia and clitoris. Skeletal X rays of the daughter showed hypoplasia of T11 vertebral body and bilateral dislocation of the radius with short humeri. At 6 years musculoskeletal examination showed primarily rhizomelic shortening of the upper extremities and a mild shortening of the forearms with limited forearm supination/pronation. There was mild fifth finger clinodactyly with no brachydactyly.

Robinow syndrome:

PMID: 29276006 - White et al 2018 - 4 families with at least one individual clinical diagnosed with Robinow or Robinow-like phenotypes and with variants in FZD2 were identified . All showed limb phenotypes including mesomelic limb shortening (3 families, mild in one case), brachdactyly (3 families), proximaly implanted thumbs (1 family), Medelung deformity (1 family).
Early onset or syndromic epilepsy v1.187 ZIC2 Rebecca Foulger gene: ZIC2 was added
gene: ZIC2 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS
Mode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ZIC2 were set to Holoprosencephaly 5, 609637
Early onset or syndromic epilepsy v1.187 TGIF1 Rebecca Foulger gene: TGIF1 was added
gene: TGIF1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS
Mode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TGIF1 were set to Holoprosencephaly 4, 142946
Early onset or syndromic epilepsy v1.187 STIL Rebecca Foulger gene: STIL was added
gene: STIL was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS
Mode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STIL were set to Microcephaly 7, primary, 612703
Early onset or syndromic epilepsy v1.187 SLC25A19 Rebecca Foulger gene: SLC25A19 was added
gene: SLC25A19 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS
Mode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A19 were set to Microcephaly, Amish type, 607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710
Early onset or syndromic epilepsy v1.187 PTCH1 Rebecca Foulger gene: PTCH1 was added
gene: PTCH1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS
Mode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTCH1 were set to Basal cell nevus syndrome, 109400; Holoprosencephaly 7, 610828; Basal cell carcinoma, somatic, 605462
Early onset or syndromic epilepsy v1.187 PRDM8 Rebecca Foulger gene: PRDM8 was added
gene: PRDM8 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS
Mode of inheritance for gene: PRDM8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM8 were set to 22961547
Phenotypes for gene: PRDM8 were set to ?Epilepsy, progressive myoclonic, 10, 616640
Early onset or syndromic epilepsy v1.187 LMNB2 Rebecca Foulger gene: LMNB2 was added
gene: LMNB2 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,Expert Review Red,NHS GMS
Mode of inheritance for gene: LMNB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMNB2 were set to 16826530
Phenotypes for gene: LMNB2 were set to {Lipodystrophy, partial, acquired, susceptibility to}, 608709; ?Epilepsy, progressive myoclonic, 9, 616540
Early onset or syndromic epilepsy v1.187 GUF1 Rebecca Foulger gene: GUF1 was added
gene: GUF1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber
Mode of inheritance for gene: GUF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUF1 were set to 26486472
Phenotypes for gene: GUF1 were set to ?Epileptic encephalopathy, early infantile, 40, 617065
Early onset or syndromic epilepsy v1.187 GABRB1 Rebecca Foulger gene: GABRB1 was added
gene: GABRB1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber
Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GABRB1 were set to 26950270; 27273810
Phenotypes for gene: GABRB1 were set to Epileptic encephalopathy, early infantile, 45, 617153
Early onset or syndromic epilepsy v1.187 CTSF Rebecca Foulger gene: CTSF was added
gene: CTSF was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSF were set to 16508006
Phenotypes for gene: CTSF were set to Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362
Early onset or syndromic epilepsy v1.187 CERS1 Rebecca Foulger gene: CERS1 was added
gene: CERS1 was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber
Mode of inheritance for gene: CERS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CERS1 were set to 19243074
Phenotypes for gene: CERS1 were set to ?Epilepsy, progressive myoclonic, 8, 616230
Early onset or syndromic epilepsy v1.187 ADRA2B Rebecca Foulger gene: ADRA2B was added
gene: ADRA2B was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber
Mode of inheritance for gene: ADRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADRA2B were set to 11701600
Phenotypes for gene: ADRA2B were set to Epilepsy, myoclonic, familial adult, 2, 607876
Congenital muscular dystrophy v1.54 MSTO1 Ivone Leong Classified gene: MSTO1 as Green List (high evidence)
Congenital muscular dystrophy v1.54 MSTO1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. MSTO1 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are >3 unrelated cases (PMID: 28544275; 28554942; 31130378) of patients with different variants in this gene who have muscular dystrophy.
Congenital muscular dystrophy v1.54 MSTO1 Ivone Leong Gene: msto1 has been classified as Green List (High Evidence).
Congenital muscular dystrophy v1.53 MSTO1 Ivone Leong Added comment: Comment on mode of inheritance: PMID: 28554942 reported on a case of patient who is heterozygous for a variant in this gene. While the other PMIDs reported on biallelic cases.
Congenital muscular dystrophy v1.53 MSTO1 Ivone Leong Mode of inheritance for gene: MSTO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Congenital muscular dystrophy v1.52 MSTO1 Ivone Leong Publications for gene: MSTO1 were set to 28544275
Limb disorders v1.30 FZD2 Eleanor Williams Publications for gene: FZD2 were set to
Limb disorders v1.29 ASXL1 Eleanor Williams Publications for gene: ASXL1 were set to
Limb disorders v1.28 ASXL1 Eleanor Williams Phenotypes for gene: ASXL1 were changed from to Bohring-Opitz syndrome, 605039
Limb disorders v1.27 ASXL1 Eleanor Williams commented on gene: ASXL1: Associated with Bohring-Opitz syndrome 605039 in OMIM and Gene2Phenotype (confirmed).

PMID: 21706002 - Hoischen et al. 2011 - 7 cases - sequenced 13 unrelated patients with Bohring-Opitz syndrome and found de novo heterozygous mutations in 7 of them. All 7 showed a typical BOS posture with flexed elbows and wrists and ulnar deviation of wrists and metacarpophalangeal joints. Syndactyly was observed in 3 out of the 7. Fixed contractures were observed in 6/7.

PMID: 22419483 - Magini et al. 2012 - In 2 unrelated patients with classic features of Bohring-Opitz syndrome, identified 2 different de novo heterozygous truncating mutations in the ASXL1 gene not previously reported. Patient 1 - axial hypotonia, limitation of elbow extension, right talipes valgus, and typical facial appearance: prominent forehead, hemangioma over the forehead and glabella, exophthalmos, ptosis, hypertelorism, low‐set, and posteriorly angulated ears, long philtrum, and everted lower lip. Patient 2 had multiple phenotypic features that include flexion deformities of upper limbs joints, at elbow and wrist level with ulnar deviation of both hands, overlapping digits, abduced thumb, clenched fists, deep single palmar crease, typical BOS posture and hypertonia, with contractures at hips, knees, and ankles. Talo‐valgus deformity of feet was present
Limb disorders v1.27 PAX3 Eleanor Williams Publications for gene: PAX3 were set to
Limb disorders v1.26 PAX3 Eleanor Williams Phenotypes for gene: PAX3 were changed from to Waardenburg syndrome, type 3, 148820
Limb disorders v1.25 PAX3 Eleanor Williams Mode of inheritance for gene: PAX3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Congenital muscular dystrophy v1.51 GOSR2 Ivone Leong reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Limb disorders v1.24 PAX3 Eleanor Williams changed review comment from: Associated with Waardenburg syndrome, type 3 (148820) and Craniofacial-deafness-hand syndrome (122880) in OMIM. It is also associated with Waardenburg syndrome type 1 (193500) which presents with a milder phenotype.

Waardenburg syndrome, type 3:

PMID: 7726174- Zlotogora et al. 1995 - 1 family - a large kindred with Waardenburg syndrome type 1 and a heterozygous mutation S84F in PAX3 gene. 1 child, born of consanguineous parents, had a severe phenotype consistent with WS type 3. This child was homozygous for the S84F mutation. The child presented with dystopia canthorum, partial albinism, and very severe upper limb defects.

PMID: 8447316 - Hoth et al. 1993 - 1 family - report the identification of a heterozygous variant leading to a N47H substitution in PAX3 (exon 2) in affected members of a family with Waardenburg syndrome type 3. In addition to hearing loss and dystopia canthorum, affected members of this family have both third-fifth-finger bilateral camptodactyly with proximal insertion of the thumbs and other limb abnormalities. The family were previously reported by Milunsky et al. (1992), Goodman et al. (1982) and Sheffer and Zlotogora (1992).

PMID: 11683776 - Tekin et al. 2001 - describe a mother and son with typical clinical findings of WS type 3 segregating with a heterozygous 13-bp deletion in the paired domain in exon 3 of the PAX3 gene. However, the limb phenotype is restricted to slight flexion contractures of the fingers, especially involving the ulnar ray in the mother, and bilateral flexion contractures of the fingers especially of the lateral three digits in the son.

PMID: 12949970 - Wollnik et al. 2003 - 1 family - a consanguineous Turkish family with a daughter in which a homozygous variant in the PAX3 gene resulted in a Y90H substitution. Both parents were heterozygous for the variant. . The daughter was determined to have type 3 Waardenburg syndrome. The limb phenotype includes flexion deformities of wrists and fingers with ulnar deviation, decreased palmar creases, and minimal webs between fingers were noted.

PMID: 30173992 - Saberi et al 2018 - 1 family - Iranian family with 10 affected members with WS type 1 or type 3. A donor splice site variant (c.586 + 2 T > C) was found in intron 4 of PAX3 that was predicted to be deleterious and co-segregated in the pedigree. It was not found in asymptomatic members. Of the 6 family members for which clinical features are available, 3 showed camptodactyly along with other features such as Hypertelorism, Dystopia Canthorum, and Broad/high nasal root. Hearing loss was not observed.; to: Associated with Waardenburg syndrome, type 3 (148820) and Craniofacial-deafness-hand syndrome (122880) in OMIM. It is also associated with Waardenburg syndrome type 1 (193500) which presents with a milder phenotype.

Waardenburg syndrome, type 3:

Homozygous cases:

PMID: - not available - Bottani et al., 1999 - 1 case originally reported in Klein et al 1983 (PMID: 6340503) of compound heterozygous mutations in PAX3 involving a recurrent missense mutation in the homeodomain and a new one in the paired domain in an individual with WS3. (Full publications not accessed).

PMID: 12949970 - Wollnik et al. 2003 - 1 family - a consanguineous Turkish family with a daughter in which a homozygous variant in the PAX3 gene resulted in a Y90H substitution. Both parents were heterozygous for the variant. The daughter was determined to have type 3 Waardenburg syndrome. The limb phenotype includes flexion deformities of wrists and fingers with ulnar deviation, decreased palmar creases, and minimal webs between fingers were noted.

PMID: 7726174- Zlotogora et al. 1995 - 1 case - a large kindred with Waardenburg syndrome type 1 and a heterozygous mutation S84F in PAX3 gene. 1 child, born of consanguineous parents, had a severe phenotype consistent with WS type 3. This child was homozygous for the S84F mutation. The child presented with dystopia canthorum, partial albinism, and very severe upper limb defects. Severe changes were present in the
upper limbs, with rigidity of the larger joints -including shoulders, elbows, and wrists-as well as of the smaller
joints of the fingers. Muscle wasting was severe in the pectoral region, the shoulders, and upper limbs. Axillary
webs were present on both sides. There was a slight degree of contracture of the knees, and there was calcaneovalgus deformation of the feet.

PMID: 26443304 - Mousty et al 2015 - 1 case - parents were first‐cousin relatives from a gypsy community in the south of France which both presented with a typical WS1 profile. Ultrasound examination of the fetus revealed cystic hygroma, holoprosencephaly, a lack of active movements, extremity abnormalities (short long bones associated with bilateral club hand and club foot), and significant spinal curvature. Both parents were found to have the same heterozygous mutation in exon 6 of PAX3, namely c.807C>G (p.Asn269Lys). Sequencing of fetal DNA found the mutation in the homozygous state. Functional studies showed an almost total loss of function of PAX3 co‐activation with SOX10 when it came to the mutant.

Heterozygous cases:

PMID: 8447316 - Hoth et al. 1993 - 1 family - report the identification of a heterozygous variant leading to a N47H substitution in PAX3 (exon 2) in affected members of a family with Waardenburg syndrome type 3. In addition to hearing loss and dystopia canthorum, affected members of this family have both third-fifth-finger bilateral camptodactyly with proximal insertion of the thumbs and other limb abnormalities. The family were previously reported by Milunsky et al. (1992), Goodman et al. (1982) and Sheffer and Zlotogora (1992).

PMID: 11683776 - Tekin et al. 2001 - describe a mother and son with typical clinical findings of WS type 3 segregating with a heterozygous 13-bp deletion in the paired domain in exon 3 of the PAX3 gene. However, the limb phenotype is restricted to slight flexion contractures of the fingers, especially involving the ulnar ray in the mother, and bilateral flexion contractures of the fingers especially of the lateral three digits in the son.

PMID: 30173992 - Saberi et al 2018 - 1 family - Iranian family with 10 affected members with WS type 1 or type 3. A heterozygous donor splice site variant (c.586 + 2 T > C) was found in intron 4 of PAX3 that was predicted to be deleterious and co-segregated in the pedigree. It was not found in asymptomatic members. Of the 6 family members for which clinical features are available, 3 showed camptodactyly along with other features such as Hypertelorism, Dystopia Canthorum, and Broad/high nasal root. Hearing loss was not observed.
Limb disorders v1.24 PAX3 Eleanor Williams commented on gene: PAX3: Associated with Waardenburg syndrome, type 3 (148820) and Craniofacial-deafness-hand syndrome (122880) in OMIM. It is also associated with Waardenburg syndrome type 1 (193500) which presents with a milder phenotype.

Waardenburg syndrome, type 3:

PMID: 7726174- Zlotogora et al. 1995 - 1 family - a large kindred with Waardenburg syndrome type 1 and a heterozygous mutation S84F in PAX3 gene. 1 child, born of consanguineous parents, had a severe phenotype consistent with WS type 3. This child was homozygous for the S84F mutation. The child presented with dystopia canthorum, partial albinism, and very severe upper limb defects.

PMID: 8447316 - Hoth et al. 1993 - 1 family - report the identification of a heterozygous variant leading to a N47H substitution in PAX3 (exon 2) in affected members of a family with Waardenburg syndrome type 3. In addition to hearing loss and dystopia canthorum, affected members of this family have both third-fifth-finger bilateral camptodactyly with proximal insertion of the thumbs and other limb abnormalities. The family were previously reported by Milunsky et al. (1992), Goodman et al. (1982) and Sheffer and Zlotogora (1992).

PMID: 11683776 - Tekin et al. 2001 - describe a mother and son with typical clinical findings of WS type 3 segregating with a heterozygous 13-bp deletion in the paired domain in exon 3 of the PAX3 gene. However, the limb phenotype is restricted to slight flexion contractures of the fingers, especially involving the ulnar ray in the mother, and bilateral flexion contractures of the fingers especially of the lateral three digits in the son.

PMID: 12949970 - Wollnik et al. 2003 - 1 family - a consanguineous Turkish family with a daughter in which a homozygous variant in the PAX3 gene resulted in a Y90H substitution. Both parents were heterozygous for the variant. . The daughter was determined to have type 3 Waardenburg syndrome. The limb phenotype includes flexion deformities of wrists and fingers with ulnar deviation, decreased palmar creases, and minimal webs between fingers were noted.

PMID: 30173992 - Saberi et al 2018 - 1 family - Iranian family with 10 affected members with WS type 1 or type 3. A donor splice site variant (c.586 + 2 T > C) was found in intron 4 of PAX3 that was predicted to be deleterious and co-segregated in the pedigree. It was not found in asymptomatic members. Of the 6 family members for which clinical features are available, 3 showed camptodactyly along with other features such as Hypertelorism, Dystopia Canthorum, and Broad/high nasal root. Hearing loss was not observed.
Mitochondrial disorders v1.475 SLC25A4 Sarah Leigh Mode of inheritance for gene: SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.474 SLC25A4 Sarah Leigh Phenotypes for gene: SLC25A4 were changed from Disorders of mitochondrial DNA maintenance and integrity; Disorders of mitochondrial protein transport; Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283; Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418; Progressive External Ophthalmoplegia with Mitochondrial DNADeletions to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Mitochondrial disorders v1.473 POLG2 Sarah Leigh Publications for gene: POLG2 were set to 27592148; 30157269
Mitochondrial disorders v1.472 POLG2 Sarah Leigh Publications for gene: POLG2 were set to
Mitochondrial disorders v1.471 POLG2 Sarah Leigh Added comment: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome (PMID 27592148; 30157269)
Mitochondrial disorders v1.471 POLG2 Sarah Leigh Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood solid tumours v1.30 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Cancer Germline Virtual
Mitochondrial disorders v1.470 ISCU Sarah Leigh Publications for gene: ISCU were set to 18296749; 29079705; 19567699; 20206689
Childhood solid tumours cancer susceptibility v1.4 Ellen McDonagh Panel types changed to Cancer Germline 100K
Mitochondrial disorders v1.469 ISCU Sarah Leigh changed review comment from: Comment on list classification: Sufficient publshed reported biallelic cases, together with a heterozygous case with supportive functional studies.; to: Comment on list classification: Sufficient published reported biallelic cases, with supportive functional studies. The most frequent reported variant c.343+382G>C g.108567650G>C is deep in intron five of the gene and strengthens a weak splicing acceptor site, with consequent retention of a 100-bp intronic sequence upstream of the known terminal exon, introduction of a stop codon and decreased levels of ISCU mRNA and protein (PMID 18304497). This may be missed by standard sequencing.
Congenital muscular dystrophy v1.51 GOLGA2 Ivone Leong Classified gene: GOLGA2 as Amber List (moderate evidence)
Congenital muscular dystrophy v1.51 GOLGA2 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. GOLGA2 is not associated with any phenotype on OMIM or Gene2Phenotype. As the case presented in PMID: 30237576 lacked any information about patient family history, it is unclear whether the variant tracks with the phenotype. Therefore, given this gene an amber rating until further evidence is available.
Congenital muscular dystrophy v1.51 GOLGA2 Ivone Leong Gene: golga2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.469 ISCU Sarah Leigh edited their review of gene: ISCU: Changed publications: 18304497
Congenital muscular dystrophy v1.50 GOLGA2 Ivone Leong Added comment: Comment on publications: PMID: 26742501 reported on a consanguineous Saudi family where the proband is diagnosed with a neuromuscular disorder characterized by developmental delay, seizures, microcephaly and muscular dystrophy. The proband is homozygous for a small deletion in the GOLGA2 gene which resulted in a frameshift mutation. The same researchers knocked down zebrafish golga2 and showed that this affected the skeletal muscles of the fish and recapitulated the human phenotype.

PMID: 30237576 is a large, high-throughput Mendelian disease study. One patient with global developmental delay, microcephaly and motor weakness affecting lower extremities. Muscle biopsy showed muscular dystrophy. The patient is homozygous for a different small deletion variant that causes frameshift mutation. No other details are given about family history/pedigree.
Congenital muscular dystrophy v1.50 GOLGA2 Ivone Leong Publications for gene: GOLGA2 were set to
Mitochondrial disorders v1.469 ISCU Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: ISCU.
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.6 CFB David Kavanagh reviewed gene: CFB: Rating: GREEN; Mode of pathogenicity: Other; Publications: 26283675, 25758434; Phenotypes: C3G, MPGN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.6 C3 David Kavanagh reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 20852386, 26471127; Phenotypes: C3G, MPGN; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Atypical haemolytic uraemic syndrome v1.9 CFHR4 David Kavanagh reviewed gene: CFHR4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: Unknown
Atypical haemolytic uraemic syndrome v1.9 THBD David Kavanagh reviewed gene: THBD: Rating: RED; Mode of pathogenicity: None; Publications: 19625716; Phenotypes: Thrombophilia due to thrombomodulin defect MIM614486, aHUS MIMN 612926; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical haemolytic uraemic syndrome v1.9 VTN David Kavanagh reviewed gene: VTN: Rating: RED; Mode of pathogenicity: None; Publications: 30377230; Phenotypes: aHUS; Mode of inheritance: Unknown
Atypical haemolytic uraemic syndrome v1.9 INF2 David Kavanagh reviewed gene: INF2: Rating: RED; Mode of pathogenicity: None; Publications: 27974406; Phenotypes: FSGS MIM 613237, CHT MIM 614455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical haemolytic uraemic syndrome v1.9 MMACHC David Kavanagh reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: None; Publications: 24210589, 1593355, 11972107, 12210350, 17874135; Phenotypes: OMIM 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disorders v1.469 TARS2 Sarah Leigh Mode of inheritance for gene: TARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.468 OXA1L Sarah Leigh Mode of inheritance for gene: OXA1L was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.467 LYRM4 Sarah Leigh Mode of inheritance for gene: LYRM4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.466 NFS1 Sarah Leigh Mode of inheritance for gene: NFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.465 NDUFB10 Sarah Leigh Mode of inheritance for gene: NDUFB10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.464 NDUFA12 Sarah Leigh Mode of inheritance for gene: NDUFA12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.463 MRPS7 Sarah Leigh Mode of inheritance for gene: MRPS7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.462 MRPL12 Sarah Leigh Mode of inheritance for gene: MRPL12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.461 IDH3B Sarah Leigh Mode of inheritance for gene: IDH3B was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.460 COX5A Sarah Leigh Publications for gene: COX5A were set to
Mitochondrial disorders v1.459 COX5A Sarah Leigh Mode of inheritance for gene: COX5A was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.458 COX4I1 Sarah Leigh Mode of inheritance for gene: COX4I1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.457 COA5 Sarah Leigh Mode of inheritance for gene: COA5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Long QT syndrome v1.29 KCNH2 Ellen McDonagh Publications for gene: KCNH2 were set to 19716085
Possible mitochondrial disorder - nuclear genes v1.1 PITRM1 Sarah Leigh edited their review of gene: PITRM1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v1.1 PITRM1 Sarah Leigh reviewed gene: PITRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset dystonia, chorea or related movement disorder v0.97 ISCA-37468-Loss Louise Daugherty Classified Region: ISCA-37468-Loss as Red List (low evidence)
Adult onset dystonia, chorea or related movement disorder v0.97 ISCA-37468-Loss Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Red
Adult onset dystonia, chorea or related movement disorder v0.97 ISCA-37468-Loss Louise Daugherty Region: isca-37468-loss has been classified as Red List (Low Evidence).
Possible mitochondrial disorder - nuclear genes v1.1 PITRM1 Sarah Leigh Publications for gene: PITRM1 were set to
Adult onset dystonia, chorea or related movement disorder v0.96 TBP_CAG Louise Daugherty commented on STR: TBP_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.96 PPP2R2B_CAG Louise Daugherty Source NHS GMS was added to STR: PPP2R2B_CAG.
Adult onset dystonia, chorea or related movement disorder v0.95 PPP2R2B_CAG Louise Daugherty commented on STR: PPP2R2B_CAG: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.95 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.95 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.95 CSTB_CCCCGCCCCGCG Louise Daugherty Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Adult onset dystonia, chorea or related movement disorder v0.94 CSTB_CCCCGCCCCGCG Louise Daugherty commented on STR: CSTB_CCCCGCCCCGCG: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.94 CACNA1A_CAG Louise Daugherty Source NHS GMS was added to STR: CACNA1A_CAG.
Adult onset dystonia, chorea or related movement disorder v0.93 CACNA1A_CAG Louise Daugherty commented on STR: CACNA1A_CAG: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.93 CACNA1A_CAG Louise Daugherty commented on STR: CACNA1A_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.93 C9orf72_GGGGCC Louise Daugherty commented on STR: C9orf72_GGGGCC: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.93 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.93 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.93 ATXN1_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN1_CAG.
Adult onset dystonia, chorea or related movement disorder v0.92 ATXN1_CAG Louise Daugherty commented on STR: ATXN1_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.194 TBP_CAG Louise Daugherty commented on STR: TBP_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.194 PPP2R2B_CAG Louise Daugherty commented on STR: PPP2R2B_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.194 NOP56_GGCCTG Louise Daugherty commented on STR: NOP56_GGCCTG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.194 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.194 FXN_GAA Louise Daugherty commented on STR: FXN_GAA: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.194 ATXN7_CAG Louise Daugherty commented on STR: ATXN7_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.194 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.194 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.194 ATXN1_CAG Louise Daugherty commented on STR: ATXN1_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.194 ATXN10_ATTCT Louise Daugherty commented on STR: ATXN10_ATTCT: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.194 ATN1_CAG Louise Daugherty commented on STR: ATN1_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Adult onset dystonia, chorea or related movement disorder v0.92 ATN1_CAG Louise Daugherty Source NHS GMS was added to STR: ATN1_CAG.
Adult onset dystonia, chorea or related movement disorder v0.91 ATN1_CAG Louise Daugherty commented on STR: ATN1_CAG: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Mitochondrial disorders v1.456 HMGCL Sarah Leigh Deleted their comment
Retinal disorders v1.149 REEP6 Ivone Leong Classified gene: REEP6 as Green List (high evidence)
Retinal disorders v1.149 REEP6 Ivone Leong Added comment: Comment on list classification: No gene added by reviewer. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. PMID: 27889058 reported on 7 people from 5 unrelated families with retinitis pigmentosa (three frameshift variants, two missense variants, and a genomic rearrangement that disrupts exon 1). The publication also includes a knockin mouse model, which mimicked the human disease phenotype. PMID: 30101608; 28475715; 28369466; 24691551 further describes the mechanisms by which REEP6 cause RP.

This gene has been given green status based on the evidence provided by the reviewer.
Retinal disorders v1.149 REEP6 Ivone Leong Gene: reep6 has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.91 TAF1 Louise Daugherty commented on gene: TAF1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset dystonia, chorea or related movement disorder v0.91 GFAP Louise Daugherty Classified gene: GFAP as Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.91 GFAP Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green - despite two initial red ratings from two GLH groups. Adult patients have heterogeneous symptoms including some with relapsing-remitting symptoms similar to multiple sclerosis.
Adult onset dystonia, chorea or related movement disorder v0.91 GFAP Louise Daugherty Gene: gfap has been classified as Green List (High Evidence).
Adult onset dystonia, chorea or related movement disorder v0.90 CIZ1 Louise Daugherty commented on gene: CIZ1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset dystonia, chorea or related movement disorder v0.90 GFAP Louise Daugherty Deleted their comment
Adult onset dystonia, chorea or related movement disorder v0.90 GFAP Louise Daugherty commented on gene: GFAP: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset dystonia, chorea or related movement disorder v0.90 CHCHD2 Louise Daugherty commented on gene: CHCHD2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Adult onset dystonia, chorea or related movement disorder v0.90 ATN1 Louise Daugherty commented on gene: ATN1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Intellectual disability v2.996 POU3F3 Catherine Snow Classified gene: POU3F3 as Green List (high evidence)
Intellectual disability v2.996 POU3F3 Catherine Snow Gene: pou3f3 has been classified as Green List (High Evidence).
Intellectual disability v2.995 POU3F3 Catherine Snow reviewed gene: POU3F3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Hereditary ataxia with onset in adulthood v1.194 ISCA-37478-Gain Louise Daugherty commented on Region: ISCA-37478-Gain: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Green
Hereditary ataxia with onset in adulthood v1.194 ISCA-37404-Loss Louise Daugherty commented on Region: ISCA-37404-Loss: Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Green
GI tract tumours v1.18 Ivone Leong Panel name changed from Inherited colorectal cancer (with or without polyposis) to GI tract tumours
List of related panels changed from GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract to GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract; Inherited colorectal cancer (with or without polyposis)
Mitochondrial disorders v1.456 TRAK1 Sarah Leigh changed review comment from: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56).; to: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red it is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56).
Mitochondrial disorders v1.456 TRAK1 Sarah Leigh changed review comment from: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases.; to: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56).
Mitochondrial disorders v1.456 PLA2G6 Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. At least numerous variants reported.; to: Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. At least numerous variants reported. The GMS mitochondrial specialist test group should be consultated on this gene with respect to phenotype (comments from Anna de Burca, Genomics England Clinical Fellow). 
IUGR and IGF abnormalities v1.29 AMMECR1 Ivone Leong Classified gene: AMMECR1 as Green List (high evidence)
IUGR and IGF abnormalities v1.29 AMMECR1 Ivone Leong Added comment: Comment on list classification: New gene added by reviewer. This gene is associated with a phenotype in OMIM but not in Gene2Phenotype. This gene has been given a green status based on reviewer provided evidence, which supports a gene-disease association.
IUGR and IGF abnormalities v1.29 AMMECR1 Ivone Leong Gene: ammecr1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.456 PLA2G6 Sarah Leigh Phenotypes for gene: PLA2G6 were changed from to Infantile neuroaxonal dystrophy 1 256600; Neurodegeneration with brain iron accumulation 2B 610217; Parkinson disease 14, autosomal recessive 612953
Mitochondrial disorders v1.456 PLA2G6 Sarah Leigh Publications for gene: PLA2G6 were set to
Mitochondrial disorders v1.455 USMG5 Sarah Leigh changed review comment from: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). Comment from Anna de Burca, Genomics England Clinical Fellow: the GMS mitochondrial specialist test group should be consultated on this gene.; to: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). The GMS mitochondrial specialist test group should be consultated on this gene and the founder variants (comment from Anna de Burca, Genomics England Clinical Fellow). 
IUGR and IGF abnormalities v1.28 AMMECR1 Ivone Leong Phenotypes for gene: AMMECR1 were changed from Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis to Short stature; Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990
Mitochondrial disorders v1.455 IARS Sarah Leigh commented on gene: IARS: The GMS mitochondrial specialist test group should be consultated on this gene with respect to phenotype (comments from Anna de Burca, Genomics England Clinical Fellow).
IUGR and IGF abnormalities v1.27 AMMECR1 Ivone Leong Publications for gene: AMMECR1 were set to
Intellectual disability v2.995 IARS Sarah Leigh commented on gene: IARS
Intellectual disability v2.995 IARS Sarah Leigh Tag new-gene-name tag was added to gene: IARS.
Paediatric disorders - additional genes v0.22 IARS Sarah Leigh Tag new-gene-name tag was added to gene: IARS.
Paediatric disorders - additional genes v0.22 IARS Sarah Leigh commented on gene: IARS
Fetal anomalies v0.327 IARS Sarah Leigh Tag new-gene-name tag was added to gene: IARS.
Fetal anomalies v0.327 IARS Sarah Leigh commented on gene: IARS
Severe microcephaly v1.67 IARS Sarah Leigh Tag new-gene-name tag was added to gene: IARS.
Severe microcephaly v1.67 IARS Sarah Leigh commented on gene: IARS
Neonatal cholestasis v1.4 IARS Sarah Leigh commented on gene: IARS: "New gene name" tag added, the new gene name is IARS1.
Neonatal cholestasis v1.4 IARS Sarah Leigh Tag new-gene-name tag was added to gene: IARS.
Mitochondrial disorders v1.455 IARS Sarah Leigh commented on gene: IARS: "New gene name" tag added, the new gene name is IARS1
Mitochondrial disorders v1.455 IARS Sarah Leigh Tag new-gene-name tag was added to gene: IARS.
Mitochondrial disorders v1.455 IARS2 Sarah Leigh Tag new-gene-name was removed from gene: IARS2.
Mitochondrial disorders v1.455 IARS2 Sarah Leigh Deleted their comment
Mitochondrial disorders v1.455 IARS2 Sarah Leigh commented on gene: IARS2: "New gene name" tag added, the new gene name is IARS1.
Mitochondrial disorders v1.455 IARS2 Sarah Leigh Tag new-gene-name tag was added to gene: IARS2.
Mitochondrial disorders v1.455 XRCC4 Sarah Leigh Phenotypes for gene: XRCC4 were changed from to Short stature, microcephaly, and endocrine dysfunction 616541
Mitochondrial disorders v1.455 XRCC4 Sarah Leigh Publications for gene: XRCC4 were set to
Mitochondrial disorders v1.454 STXBP1 Sarah Leigh Phenotypes for gene: STXBP1 were changed from to Epileptic encephalopathy, early infantile, 4 612164
Mitochondrial disorders v1.454 STXBP1 Sarah Leigh Publications for gene: STXBP1 were set to
Mitochondrial disorders v1.453 SLC44A1 Sarah Leigh Phenotypes for gene: SLC44A1 were changed from mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy to mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy
Mitochondrial disorders v1.453 SLC44A1 Sarah Leigh Phenotypes for gene: SLC44A1 were changed from to mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy
Mitochondrial disorders v1.453 SLC44A1 Sarah Leigh Publications for gene: SLC44A1 were set to
Mitochondrial disorders v1.452 SLC39A8 Sarah Leigh Phenotypes for gene: SLC39A8 were changed from to Congenital disorder of glycosylation, type IIn 616721
Mitochondrial disorders v1.452 SLC39A8 Sarah Leigh Publications for gene: SLC39A8 were set to
Mitochondrial disorders v1.451 SLC33A1 Sarah Leigh Phenotypes for gene: SLC33A1 were changed from to Congenital cataracts, hearing loss, and neurodegeneration 614482; Spastic paraplegia 42, autosomal dominant 612539
Mitochondrial disorders v1.450 SLC33A1 Sarah Leigh Publications for gene: SLC33A1 were set to
Mitochondrial disorders v1.449 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from to Fontaine progeroid syndrome 612289
Mitochondrial disorders v1.449 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to
Mitochondrial disorders v1.448 SLC25A10 Sarah Leigh Publications for gene: SLC25A10 were set to
Mitochondrial disorders v1.447 SEPSECS Sarah Leigh Publications for gene: SEPSECS were set to
Mitochondrial disorders v1.446 PTRH2 Sarah Leigh Phenotypes for gene: PTRH2 were changed from to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263
Mitochondrial disorders v1.446 PTRH2 Sarah Leigh Publications for gene: PTRH2 were set to
Mitochondrial disorders v1.445 PDE12 Sarah Leigh Publications for gene: PDE12 were set to
Mitochondrial disorders v1.444 PAM16 Sarah Leigh Phenotypes for gene: PAM16 were changed from to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320
Mitochondrial disorders v1.444 PAM16 Sarah Leigh Publications for gene: PAM16 were set to
Mitochondrial disorders v1.443 NAXD Sarah Leigh Phenotypes for gene: NAXD were changed from to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321
Mitochondrial disorders v1.443 NAXD Sarah Leigh Publications for gene: NAXD were set to
Mitochondrial disorders v1.442 MICU2 Sarah Leigh Phenotypes for gene: MICU2 were changed from to severe cognitive impairment and spasticity
Mitochondrial disorders v1.442 MICU2 Sarah Leigh Publications for gene: MICU2 were set to
Mitochondrial disorders v1.441 KIF5A Sarah Leigh Phenotypes for gene: KIF5A were changed from to Myoclonus, intractable, neonatal 617235; Spastic paraplegia 10, autosomal dominant 604187; {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921
Mitochondrial disorders v1.441 KIF5A Sarah Leigh Publications for gene: KIF5A were set to
Mitochondrial disorders v1.440 HSPE1 Sarah Leigh Publications for gene: HSPE1 were set to 29903433; 27774450
Mitochondrial disorders v1.440 HSPE1 Sarah Leigh Phenotypes for gene: HSPE1 were changed from to Neurological and Developmental Disorder
Mitochondrial disorders v1.440 HSPE1 Sarah Leigh Publications for gene: HSPE1 were set to
Mitochondrial disorders v1.439 GUF1 Sarah Leigh Phenotypes for gene: GUF1 were changed from to ?Epileptic encephalopathy, early infantile, 40 617065
Mitochondrial disorders v1.439 GUF1 Sarah Leigh Publications for gene: GUF1 were set to
Mitochondrial disorders v1.438 FGF12 Sarah Leigh Phenotypes for gene: FGF12 were changed from Epileptic encephalopathy, early infantile, 47 617166 to Epileptic encephalopathy, early infantile, 47 617166
Mitochondrial disorders v1.437 FGF12 Sarah Leigh Phenotypes for gene: FGF12 were changed from to Epileptic encephalopathy, early infantile, 47 617166
Mitochondrial disorders v1.437 FGF12 Sarah Leigh Publications for gene: FGF12 were set to
Mitochondrial disorders v1.436 FA2H Sarah Leigh Phenotypes for gene: FA2H were changed from to Spastic paraplegia 35, autosomal recessive 612319
Mitochondrial disorders v1.436 FA2H Sarah Leigh Publications for gene: FA2H were set to
Mitochondrial disorders v1.435 DIAPH1 Sarah Leigh Phenotypes for gene: DIAPH1 were changed from to Deafness, autosomal dominant 1 124900; Seizures, cortical blindness, microcephaly syndrome 616632
Mitochondrial disorders v1.435 DIAPH1 Sarah Leigh Publications for gene: DIAPH1 were set to
Mitochondrial disorders v1.434 DIABLO Sarah Leigh Phenotypes for gene: DIABLO were changed from to Deafness, autosomal dominant 64 614152
Mitochondrial disorders v1.434 DIABLO Sarah Leigh Publications for gene: DIABLO were set to
Mitochondrial disorders v1.433 CYP24A1 Sarah Leigh Phenotypes for gene: CYP24A1 were changed from to Hypercalcemia, infantile, 1 143880
Mitochondrial disorders v1.433 CYP24A1 Sarah Leigh Publications for gene: CYP24A1 were set to
Mitochondrial disorders v1.432 CTBP1 Sarah Leigh Phenotypes for gene: CTBP1 were changed from to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915
Mitochondrial disorders v1.432 CTBP1 Sarah Leigh Publications for gene: CTBP1 were set to
Mitochondrial disorders v1.431 CRAT Sarah Leigh Phenotypes for gene: CRAT were changed from to ?Neurodegeneration with brain iron accumulation 8 617917
Mitochondrial disorders v1.431 CRAT Sarah Leigh Publications for gene: CRAT were set to
Mitochondrial disorders v1.430 CLPX Sarah Leigh Phenotypes for gene: CLPX were changed from to ?Protoporphyria, erythropoietic, 2 618015
Mitochondrial disorders v1.430 CLPX Sarah Leigh Publications for gene: CLPX were set to
Mitochondrial disorders v1.429 BDH1 Sarah Leigh Publications for gene: BDH1 were set to
Mitochondrial disorders v1.428 USMG5 Sarah Leigh changed review comment from: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077).; to: Homozygouse founder variant (NM_032747.3 c.87+1G>C) reported in three unrelated Ashkenazi Jewish families (allele freq 0.57% in Ashkenazi Jewish populations). Not associated with phenotype in OMIM or in Gen2Phen. Supportive functional studies are also reported (PMID 29917077). Comment from Anna de Burca, Genomics England Clinical Fellow: the GMS mitochondrial specialist test group should be consultated on this gene.
GI tract tumours v1.17 Ivone Leong List of related panels changed from GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract; R209 to GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract
Panel types changed to Rare Disease 100K
Inherited polyposis and early onset colorectal cancer - germline testing v0.53 Ivone Leong List of related panels changed from R211 to R211; R209
Mitochondrial disorders v1.428 USMG5 Sarah Leigh Phenotypes for gene: USMG5 were changed from to Autosomal recessive Leigh syndrome
Mitochondrial disorders v1.428 USMG5 Sarah Leigh Publications for gene: USMG5 were set to
Mitochondrial disorders v1.427 ALDH18A1 Sarah Leigh Phenotypes for gene: ALDH18A1 were changed from to Cutis laxa, autosomal dominant 3 616603; Cutis laxa, autosomal recessive, type IIIA 219150; Spastic paraplegia 9A, autosomal dominant 601162; Spastic paraplegia 9B, autosomal recessive 616586
Mitochondrial disorders v1.427 ALDH18A1 Sarah Leigh Publications for gene: ALDH18A1 were set to
Mitochondrial disorders v1.426 ALAS2 Sarah Leigh Phenotypes for gene: ALAS2 were changed from to Anemia, sideroblastic, 1 300751; Protoporphyria, erythropoietic, X-linked 300752
Mitochondrial disorders v1.426 ALAS2 Sarah Leigh Publications for gene: ALAS2 were set to
Mitochondrial disorders v1.425 ABCB6 Sarah Leigh Phenotypes for gene: ABCB6 were changed from to Dyschromatosis universalis hereditaria 3 615402; Microphthalmia, isolated, with coloboma 7 614497; Pseudohyperkalemia, familial, 2, due to red cell leak 609153
Mitochondrial disorders v1.425 ABCB6 Sarah Leigh Publications for gene: ABCB6 were set to
Mitochondrial disorders v1.424 AK2 Sarah Leigh changed review comment from: Reticular dysgenesis 267500 can be classified as a mitochondriopathy according to PMID 19043417. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported.; to: Reticular dysgenesis 267500 can be classified as a mitochondriopathy according to PMID 19043417. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported.

However, the phenotype (reticular dysgenesis) is not likely to suggest a non-specific mitochondrial disorder
(comments from Anna de Burca, Genomics England Clinical Fellow).
Mitochondrial disorders v1.424 AK2 Sarah Leigh Phenotypes for gene: AK2 were changed from to Reticular dysgenesis 267500
Mitochondrial disorders v1.424 AK2 Sarah Leigh Publications for gene: AK2 were set to
Mitochondrial disorders v1.423 XRCC4 Sarah Leigh reviewed gene: XRCC4: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Short stature, microcephaly, and endocrine dysfunction 616541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 TRAK1 Sarah Leigh reviewed gene: TRAK1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29846532; Phenotypes: Epileptic encephalopathy, early infantile, 68 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 STXBP1 Sarah Leigh reviewed gene: STXBP1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Epileptic encephalopathy, early infantile, 4 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 SLC44A1 Sarah Leigh reviewed gene: SLC44A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28097321; Phenotypes: mild ID, macrocephaly, acanthosis nigricans, accessory mamilla, muscular hypotonia, frontotemporal cerebral atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 SLC39A8 Sarah Leigh reviewed gene: SLC39A8: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Congenital disorder of glycosylation, type IIn 616721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 SLC33A1 Sarah Leigh reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration 614482, Spastic paraplegia 42, autosomal dominant 612539 AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 SLC25A24 Sarah Leigh reviewed gene: SLC25A24: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29100093, 29100094; Phenotypes: Fontaine progeroid syndrome 612289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 SLC25A10 Sarah Leigh reviewed gene: SLC25A10: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29211846 ; Phenotypes: intractable epileptic encephalopathy with complex I deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 SEPSECS Sarah Leigh reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29464431, 20920667; Phenotypes: Pontocerebellar hypoplasia type 2D 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 SECISBP2 Sarah Leigh reviewed gene: SECISBP2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29882503, 16228000; Phenotypes: Thyroid hormone metabolism, abnormal 609698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 PTRH2 Sarah Leigh reviewed gene: PTRH2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28328138, 31057140, 25558065; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 PLA2G6 Sarah Leigh reviewed gene: PLA2G6: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Infantile neuroaxonal dystrophy 1 256600, Neurodegeneration with brain iron accumulation 2B 610217, Parkinson disease 14, autosomal recessive 612953; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 PDE12 Sarah Leigh reviewed gene: PDE12: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28745585; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.423 PAM16 Sarah Leigh reviewed gene: PAM16: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27354339; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type 613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 NAXD Sarah Leigh reviewed gene: NAXD: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 30576410; Phenotypes: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 618321; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 MICU2 Sarah Leigh reviewed gene: MICU2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29053821; Phenotypes: severe cognitive impairment and spasticity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 KIF5A Sarah Leigh reviewed gene: KIF5A: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Myoclonus, intractable, neonatal 617235, Spastic paraplegia 10, autosomal dominant 604187, {Amyotrophic lateral sclerosis, susceptibility to, 25} 617921; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 IARS Sarah Leigh reviewed gene: IARS: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Growth retardation, impaired intellectual development, hypotonia, and hepatopathy 617093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 HSPE1 Sarah Leigh reviewed gene: HSPE1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27774450; Phenotypes: Neurological and Developmental Disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 GUF1 Sarah Leigh reviewed gene: GUF1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 26486472; Phenotypes: ?Epileptic encephalopathy, early infantile, 40 617065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 FGF12 Sarah Leigh reviewed gene: FGF12: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27164707, 27872899; Phenotypes: Epileptic encephalopathy, early infantile, 47 617166; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 FA2H Sarah Leigh reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Spastic paraplegia 35, autosomal recessive 612319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 DIAPH1 Sarah Leigh reviewed gene: DIAPH1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27808407, 26912466; Phenotypes: Deafness, autosomal dominant 1 124900, Seizures, cortical blindness, microcephaly syndrome 616632; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 DIABLO Sarah Leigh reviewed gene: DIABLO: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 23510774; Phenotypes: Deafness, autosomal dominant 64 614152; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 CYP24A1 Sarah Leigh reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Hypercalcemia, infantile, 1 143880; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 CTBP1 Sarah Leigh reviewed gene: CTBP1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 27094857, 29291004; Phenotypes: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome 617915; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 CRAT Sarah Leigh reviewed gene: CRAT: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29395073; Phenotypes: ?Neurodegeneration with brain iron accumulation 8 617917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 CLPX Sarah Leigh reviewed gene: CLPX: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 28874591, 25957689; Phenotypes: ?Protoporphyria, erythropoietic, 2 618015; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.423 BDH1 Sarah Leigh reviewed gene: BDH1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29501613, 21285140 ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.423 USMG5 Sarah Leigh reviewed gene: USMG5: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29917077, 30240627; Phenotypes: Autosomal recessive Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 ALDH18A1 Sarah Leigh reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150, Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 ALAS2 Sarah Leigh reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Anemia, sideroblastic, 1 300751, Protoporphyria, erythropoietic, X-linked 300752; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disorders v1.423 AK2 Sarah Leigh reviewed gene: AK2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 19043417; Phenotypes: Reticular dysgenesis 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.423 ABCB6 Sarah Leigh reviewed gene: ABCB6: Rating: RED; Mode of pathogenicity: ; Publications: 29903433; Phenotypes: Dyschromatosis universalis hereditaria 3 615402, Microphthalmia, isolated, with coloboma 7 614497, Pseudohyperkalemia, familial, 2, due to red cell leak 609153; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mitochondrial disorders v1.422 XRCC4 Sarah Leigh gene: XRCC4 was added
gene: XRCC4 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: XRCC4 was set to
Mitochondrial disorders v1.422 TRAK1 Sarah Leigh gene: TRAK1 was added
gene: TRAK1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: TRAK1 was set to
Mitochondrial disorders v1.422 STXBP1 Sarah Leigh gene: STXBP1 was added
gene: STXBP1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: STXBP1 was set to
Mitochondrial disorders v1.422 SLC44A1 Sarah Leigh gene: SLC44A1 was added
gene: SLC44A1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SLC44A1 was set to
Mitochondrial disorders v1.422 SLC39A8 Sarah Leigh gene: SLC39A8 was added
gene: SLC39A8 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SLC39A8 was set to
Mitochondrial disorders v1.422 SLC33A1 Sarah Leigh gene: SLC33A1 was added
gene: SLC33A1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SLC33A1 was set to
Mitochondrial disorders v1.422 SLC25A24 Sarah Leigh gene: SLC25A24 was added
gene: SLC25A24 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SLC25A24 was set to
Mitochondrial disorders v1.422 SLC25A10 Sarah Leigh gene: SLC25A10 was added
gene: SLC25A10 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SLC25A10 was set to
Mitochondrial disorders v1.422 SEPSECS Sarah Leigh gene: SEPSECS was added
gene: SEPSECS was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SEPSECS was set to
Mitochondrial disorders v1.422 SECISBP2 Sarah Leigh gene: SECISBP2 was added
gene: SECISBP2 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: SECISBP2 was set to
Mitochondrial disorders v1.422 PTRH2 Sarah Leigh gene: PTRH2 was added
gene: PTRH2 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: PTRH2 was set to
Mitochondrial disorders v1.422 PLA2G6 Sarah Leigh gene: PLA2G6 was added
gene: PLA2G6 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: PLA2G6 was set to
Mitochondrial disorders v1.422 PDE12 Sarah Leigh gene: PDE12 was added
gene: PDE12 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: PDE12 was set to
Mitochondrial disorders v1.422 PAM16 Sarah Leigh gene: PAM16 was added
gene: PAM16 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: PAM16 was set to
Mitochondrial disorders v1.422 NAXD Sarah Leigh gene: NAXD was added
gene: NAXD was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: NAXD was set to
Mitochondrial disorders v1.422 MICU2 Sarah Leigh gene: MICU2 was added
gene: MICU2 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: MICU2 was set to
Mitochondrial disorders v1.422 KIF5A Sarah Leigh gene: KIF5A was added
gene: KIF5A was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: KIF5A was set to
Mitochondrial disorders v1.422 IARS Sarah Leigh gene: IARS was added
gene: IARS was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: IARS was set to
Mitochondrial disorders v1.422 HSPE1 Sarah Leigh gene: HSPE1 was added
gene: HSPE1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: HSPE1 was set to
Mitochondrial disorders v1.422 GUF1 Sarah Leigh gene: GUF1 was added
gene: GUF1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: GUF1 was set to
Mitochondrial disorders v1.422 FGF12 Sarah Leigh gene: FGF12 was added
gene: FGF12 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: FGF12 was set to
Mitochondrial disorders v1.422 FA2H Sarah Leigh gene: FA2H was added
gene: FA2H was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: FA2H was set to
Mitochondrial disorders v1.422 DIAPH1 Sarah Leigh gene: DIAPH1 was added
gene: DIAPH1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: DIAPH1 was set to
Mitochondrial disorders v1.422 DIABLO Sarah Leigh gene: DIABLO was added
gene: DIABLO was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: DIABLO was set to
Mitochondrial disorders v1.422 CYP24A1 Sarah Leigh gene: CYP24A1 was added
gene: CYP24A1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: CYP24A1 was set to
Mitochondrial disorders v1.422 CTBP1 Sarah Leigh gene: CTBP1 was added
gene: CTBP1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: CTBP1 was set to
Mitochondrial disorders v1.422 CRAT Sarah Leigh gene: CRAT was added
gene: CRAT was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: CRAT was set to
Mitochondrial disorders v1.422 CLPX Sarah Leigh gene: CLPX was added
gene: CLPX was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: CLPX was set to
Mitochondrial disorders v1.422 BDH1 Sarah Leigh gene: BDH1 was added
gene: BDH1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: BDH1 was set to
Mitochondrial disorders v1.422 USMG5 Sarah Leigh gene: USMG5 was added
gene: USMG5 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: USMG5 was set to
Mitochondrial disorders v1.422 ALDH18A1 Sarah Leigh gene: ALDH18A1 was added
gene: ALDH18A1 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: ALDH18A1 was set to
Mitochondrial disorders v1.422 ALAS2 Sarah Leigh gene: ALAS2 was added
gene: ALAS2 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: ALAS2 was set to
Mitochondrial disorders v1.422 AK2 Sarah Leigh gene: AK2 was added
gene: AK2 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: AK2 was set to
Mitochondrial disorders v1.422 ABCB6 Sarah Leigh gene: ABCB6 was added
gene: ABCB6 was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: ABCB6 was set to
Intellectual disability v2.995 POU3F3 Catherine Snow Publications for gene: POU3F3 were set to https://doi.org/10.1016/j.ajhg.2019.06.007; 24550763
Inherited polyposis and early onset colorectal cancer - germline testing v0.51 MSH3 Ivone Leong Added comment: Comment on mode of inheritance: Corrected the MOI. Changed Monoallelic to Biallelic.
Inherited polyposis and early onset colorectal cancer - germline testing v0.51 MSH3 Ivone Leong Mode of inheritance for gene: MSH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.994 SHANK1 Catherine Snow Classified gene: SHANK1 as Red List (low evidence)
Intellectual disability v2.994 SHANK1 Catherine Snow Gene: shank1 has been classified as Red List (Low Evidence).
Intellectual disability v2.993 SHANK1 Catherine Snow reviewed gene: SHANK1: Rating: RED; Mode of pathogenicity: None; Publications: 30053575, 20868654; Phenotypes: ; Mode of inheritance: None
Corneal dystrophy v1.0 Ivone Leong promoted panel to version 1.0
Corneal dystrophy v0.8 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Albinism or congenital nystagmus v1.0 Ivone Leong promoted panel to version 1.0
Albinism or congenital nystagmus v0.21 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Cerebral vascular malformations v1.38 PKD1 Louise Daugherty Added comment: Comment on mode of inheritance: As a result of updating the mode of inheritance for PKD1 from monoallelic > TO> BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal by PanelApp curation team for renal panels, it was flagged with clinical team about other non-renal panels and it was decided that it also applied to the Cerebral vascular malformation panel
Cerebral vascular malformations v1.38 PKD1 Louise Daugherty Mode of inheritance for gene: PKD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inherited pancreatic cancer v0.29 Ivone Leong List of related panels changed from to R367
Lysosomal storage disorder v0.6 SUMF1 Carol Hardy Deleted their review
Lysosomal storage disorder v0.6 MCOLN1 Carol Hardy Deleted their review
Lysosomal storage disorder v0.6 GLB1 Carol Hardy Deleted their review
Lysosomal storage disorder v0.6 GLB1 Carol Hardy Deleted their comment
Lysosomal storage disorder v0.6 GM2A Carol Hardy Deleted their review
Lysosomal storage disorder v0.6 GM2A Carol Hardy Deleted their comment
Fetal anomalies v0.327 RAC1 Rebecca Foulger Publications for gene: RAC1 were set to 30712878
Retinal disorders v1.148 IDH3A Ivone Leong Classified gene: IDH3A as Green List (high evidence)
Retinal disorders v1.148 IDH3A Ivone Leong Gene: idh3a has been classified as Green List (High Evidence).
Retinal disorders v1.147 IDH3A Ivone Leong gene: IDH3A was added
gene: IDH3A was added to Retinal disorders. Sources: Expert list
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 28412069; 30478029
Phenotypes for gene: IDH3A were set to Retinitis Pigmentosa; Pseudocoloboma
Review for gene: IDH3A was set to GREEN
Added comment: This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 28412069 reported on 7 individuals from 4 unrelated familes (Netherlands, Israel and South Africa) diagnosed have retinitis pigmentosa who have compound heterozygous/homozygous variants in IDHA3. PMID: 30478029 reported on a Idha3 mouse model that develops retinal degeneration. Therefore, there is enough evidence to promote this gene to green status.
Sources: Expert list
Adult solid tumours cancer susceptibility v1.5 SOS2 Ivone Leong reviewed gene: SOS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 RIT1 Ivone Leong reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 PPP1CB Ivone Leong reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 LZTR1 Ivone Leong reviewed gene: LZTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SPRED1 Ivone Leong commented on gene: SPRED1: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that RASopathy associated genes associated with cancer will be included in this panel; however, this gene does not appear to predispose patients to cancer so therefore this has been rated red.
Adult solid tumours cancer susceptibility v1.5 MAP2K2 Ivone Leong reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 MAP2K1 Ivone Leong reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 BRAF Ivone Leong reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SOS1 Ivone Leong reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SHOC2 Ivone Leong reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 RAF1 Ivone Leong reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 PTPN11 Ivone Leong reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 NRAS Ivone Leong reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 KRAS Ivone Leong reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 HRAS Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 FANCL Ivone Leong reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 FANCI Ivone Leong reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 FANCG Ivone Leong reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 FANCF Ivone Leong reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 FANCE Ivone Leong reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 FANCD2 Ivone Leong reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 FANCC Ivone Leong reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 FANCB Ivone Leong reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 FANCA Ivone Leong reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 WRAP53 Ivone Leong reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 TERC Ivone Leong reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SPRED1 Ivone Leong reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 POLH Ivone Leong reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 24877075, 30511002, 11773631; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 RTEL1 Ivone Leong reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24582487; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 DKC1 Ivone Leong reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 ACD Ivone Leong reviewed gene: ACD: Rating: AMBER; Mode of pathogenicity: ; Publications: 25233904, 25205116; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 XPC Ivone Leong reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26975629, 30565713, 21097776; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 XPA Ivone Leong reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 26975629, 30565713, 21097776; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 TERT Ivone Leong reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 MAP2K2 Anna de Burca reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 MAP2K1 Anna de Burca reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 ERCC5 Ivone Leong reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9096355, 7951246, 23255472, 1206391, 10026181, 11841555, 26884178; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 ERCC3 Ivone Leong reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16947863, 26884178; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 ERCC2 Ivone Leong reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 28376890; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 DDB2 Ivone Leong reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 21107348, 104693112, 12812979; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 BRAF Anna de Burca reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SOS1 Anna de Burca reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SHOC2 Anna de Burca reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 RAF1 Anna de Burca reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 PTPN11 Anna de Burca reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 NRAS Anna de Burca reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 KRAS Anna de Burca reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 HRAS Anna de Burca reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 ERCC4 Ivone Leong reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 CBL Ivone Leong reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 CBL Anna de Burca reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 WT1 Ivone Leong reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 VHL Ivone Leong reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 TSC2 Ivone Leong reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 TSC1 Ivone Leong reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 TP53 Ivone Leong reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 TMEM127 Ivone Leong reviewed gene: TMEM127: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SUFU Ivone Leong reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 STK11 Ivone Leong reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SMARCB1 Ivone Leong reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SMARCA4 Ivone Leong reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SMAD4 Ivone Leong reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SDHD Ivone Leong reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SDHC Ivone Leong reviewed gene: SDHC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SDHB Ivone Leong reviewed gene: SDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SDHAF2 Ivone Leong reviewed gene: SDHAF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 SDHA Ivone Leong reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 RET Ivone Leong reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 RB1 Ivone Leong reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 RAD51D Ivone Leong reviewed gene: RAD51D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 RAD51C Ivone Leong reviewed gene: RAD51C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 PTEN Ivone Leong reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 PTCH1 Ivone Leong reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 POLE Ivone Leong reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 POLD1 Ivone Leong reviewed gene: POLD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 PMS2 Ivone Leong reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 PALB2 Ivone Leong reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 NTHL1 Ivone Leong reviewed gene: NTHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 NF2 Ivone Leong reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 NF1 Ivone Leong reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 MUTYH Ivone Leong reviewed gene: MUTYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 MSH6 Ivone Leong reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 MSH2 Ivone Leong reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 MLH1 Ivone Leong reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 MET Ivone Leong reviewed gene: MET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 MEN1 Ivone Leong reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 MAX Ivone Leong reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 KIT Ivone Leong reviewed gene: KIT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 FLCN Ivone Leong reviewed gene: FLCN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 FH Ivone Leong reviewed gene: FH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 EPCAM Ivone Leong reviewed gene: EPCAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 DICER1 Ivone Leong reviewed gene: DICER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 CDKN2A Ivone Leong reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 CDKN1B Ivone Leong reviewed gene: CDKN1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 CDK4 Ivone Leong reviewed gene: CDK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 CDH1 Ivone Leong reviewed gene: CDH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 CDC73 Ivone Leong reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 BRIP1 Ivone Leong reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 BRCA2 Ivone Leong reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 BRCA1 Ivone Leong reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 BMPR1A Ivone Leong reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 BAP1 Ivone Leong reviewed gene: BAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 ATM Ivone Leong reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.5 APC Ivone Leong reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult solid tumours cancer susceptibility v1.4 SLX4 Ivone Leong gene: SLX4 was added
gene: SLX4 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, 613951
Adult solid tumours cancer susceptibility v1.4 FANCL Ivone Leong gene: FANCL was added
gene: FANCL was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FANCL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCL were set to 19686080
Phenotypes for gene: FANCL were set to Fanconi Anemia
Adult solid tumours cancer susceptibility v1.4 FANCI Ivone Leong gene: FANCI was added
gene: FANCI was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCI were set to 19686080
Phenotypes for gene: FANCI were set to Fanconi Anemia
Adult solid tumours cancer susceptibility v1.4 FANCG Ivone Leong gene: FANCG was added
gene: FANCG was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FANCG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCG were set to 19686080
Phenotypes for gene: FANCG were set to Fanconi Anemia
Adult solid tumours cancer susceptibility v1.4 FANCF Ivone Leong gene: FANCF was added
gene: FANCF was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FANCF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCF were set to 19686080
Phenotypes for gene: FANCF were set to Fanconi Anemia
Adult solid tumours cancer susceptibility v1.4 FANCE Ivone Leong gene: FANCE was added
gene: FANCE was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCE were set to 19686080
Phenotypes for gene: FANCE were set to Fanconi Anemia
Adult solid tumours cancer susceptibility v1.4 FANCD2 Ivone Leong gene: FANCD2 was added
gene: FANCD2 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCD2 were set to 19686080
Phenotypes for gene: FANCD2 were set to Fanconi Anemia
Adult solid tumours cancer susceptibility v1.4 FANCC Ivone Leong gene: FANCC was added
gene: FANCC was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FANCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCC were set to 19686080
Phenotypes for gene: FANCC were set to Fanconi Anemia
Adult solid tumours cancer susceptibility v1.4 FANCB Ivone Leong gene: FANCB was added
gene: FANCB was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514
Adult solid tumours cancer susceptibility v1.4 FANCA Ivone Leong gene: FANCA was added
gene: FANCA was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FANCA were set to 19686080
Phenotypes for gene: FANCA were set to Fanconi Anemia
Adult solid tumours cancer susceptibility v1.4 WRAP53 Ivone Leong gene: WRAP53 was added
gene: WRAP53 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRAP53 were set to 22285015
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, 613988
Adult solid tumours cancer susceptibility v1.4 TINF2 Ivone Leong gene: TINF2 was added
gene: TINF2 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3, 613990
Adult solid tumours cancer susceptibility v1.4 TERC Ivone Leong gene: TERC was added
gene: TERC was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TERC were set to 22285015
Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1, 127550
Adult solid tumours cancer susceptibility v1.4 SPRED1 Ivone Leong gene: SPRED1 was added
gene: SPRED1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPRED1 were set to 23875798
Phenotypes for gene: SPRED1 were set to Legius syndrome 611431
Adult solid tumours cancer susceptibility v1.4 NOP10 Ivone Leong gene: NOP10 was added
gene: NOP10 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS
Mode of inheritance for gene: NOP10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NOP10 were set to Dyskeratosis Congenita
Adult solid tumours cancer susceptibility v1.4 POLH Ivone Leong gene: POLH was added
gene: POLH was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLH were set to 24877075; 11773631; 26884178; 30511002
Phenotypes for gene: POLH were set to Xeroderma pigmentosum, variant type, 278750
Adult solid tumours cancer susceptibility v1.4 RTEL1 Ivone Leong gene: RTEL1 was added
gene: RTEL1 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RTEL1 were set to 24582487
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 615190; 615190 DC type 4 and 5; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; 615190 Dyskeratosis congenita; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
Adult solid tumours cancer susceptibility v1.4 PARN Ivone Leong gene: PARN was added
gene: PARN was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PARN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: PARN were set to 616353 Dyskeratosis congenita, autosomal recessive 6; 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
Adult solid tumours cancer susceptibility v1.4 DKC1 Ivone Leong gene: DKC1 was added
gene: DKC1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, autosomal recessive 6, 616353
Adult solid tumours cancer susceptibility v1.4 CTC1 Ivone Leong gene: CTC1 was added
gene: CTC1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTC1 were set to Dyskeratosis congenita; Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Recessive; 612199 Coats plus syndrome
Adult solid tumours cancer susceptibility v1.4 ACD Ivone Leong gene: ACD was added
gene: ACD was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACD were set to 25233904; 25205116
Phenotypes for gene: ACD were set to 616553 ?Dyskeratosis congenita 6 and 7
Adult solid tumours cancer susceptibility v1.4 SOS2 Ivone Leong gene: SOS2 was added
gene: SOS2 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559
Adult solid tumours cancer susceptibility v1.4 RIT1 Ivone Leong gene: RIT1 was added
gene: RIT1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RIT1 were set to Noonan syndrome 8 615355
Adult solid tumours cancer susceptibility v1.4 PPP1CB Ivone Leong gene: PPP1CB was added
gene: PPP1CB was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506
Adult solid tumours cancer susceptibility v1.4 LZTR1 Ivone Leong gene: LZTR1 was added
gene: LZTR1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LZTR1 were set to Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670
Adult solid tumours cancer susceptibility v1.4 XPC Ivone Leong gene: XPC was added
gene: XPC was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPC were set to 21097776; 26975629; 30565713
Phenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720
Adult solid tumours cancer susceptibility v1.4 XPA Ivone Leong gene: XPA was added
gene: XPA was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPA were set to 21097776; 26975629; 30565713
Phenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700
Adult solid tumours cancer susceptibility v1.4 TERT Ivone Leong gene: TERT was added
gene: TERT was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: TERT were set to 22285015
Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989
Adult solid tumours cancer susceptibility v1.4 MAP2K2 Ivone Leong gene: MAP2K2 was added
gene: MAP2K2 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MAP2K2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K2 were set to 23875798
Phenotypes for gene: MAP2K2 were set to Cardiofaciocutaneous syndrome 4 615280
Adult solid tumours cancer susceptibility v1.4 MAP2K1 Ivone Leong gene: MAP2K1 was added
gene: MAP2K1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MAP2K1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAP2K1 were set to 23875798
Phenotypes for gene: MAP2K1 were set to Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome
Adult solid tumours cancer susceptibility v1.4 ERCC5 Ivone Leong gene: ERCC5 was added
gene: ERCC5 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ERCC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC5 were set to 26884178; 10026181; 7951246; 11841555; 9096355; 23255472; 1206391
Phenotypes for gene: ERCC5 were set to Xeroderma pigmentosum, group G, 278780
Adult solid tumours cancer susceptibility v1.4 ERCC3 Ivone Leong gene: ERCC3 was added
gene: ERCC3 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ERCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC3 were set to 26884178; 16947863
Phenotypes for gene: ERCC3 were set to Xeroderma pigmentosum, group B, 610651
Adult solid tumours cancer susceptibility v1.4 ERCC2 Ivone Leong gene: ERCC2 was added
gene: ERCC2 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERCC2 were set to 26884178; 28376890
Phenotypes for gene: ERCC2 were set to Xeroderma pigmentosum, group D, 278730
Adult solid tumours cancer susceptibility v1.4 ERCC1 Ivone Leong gene: ERCC1 was added
gene: ERCC1 was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ERCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC1 were set to Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758
Adult solid tumours cancer susceptibility v1.4 DDB2 Ivone Leong gene: DDB2 was added
gene: DDB2 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: DDB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDB2 were set to 12812979; 21107348; 26884178; 104693112
Phenotypes for gene: DDB2 were set to Xeroderma pigmentosum, group E, DDB-negative subtype, 278740
Adult solid tumours cancer susceptibility v1.4 BRAF Ivone Leong gene: BRAF was added
gene: BRAF was added to Adult solid tumours cancer susceptibility. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: BRAF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BRAF were set to 23875798
Phenotypes for gene: BRAF were set to Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707
Adult solid tumours cancer susceptibility v1.4 SOS1 Ivone Leong gene: SOS1 was added
gene: SOS1 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SOS1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOS1 were set to 23875798
Phenotypes for gene: SOS1 were set to Noonan syndrome 4 610733
Adult solid tumours cancer susceptibility v1.4 SHOC2 Ivone Leong gene: SHOC2 was added
gene: SHOC2 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: SHOC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SHOC2 were set to 23875798
Phenotypes for gene: SHOC2 were set to Noonan-like syndrome with loose anagen hair
Adult solid tumours cancer susceptibility v1.4 RAF1 Ivone Leong gene: RAF1 was added
gene: RAF1 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RAF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RAF1 were set to 23875798
Phenotypes for gene: RAF1 were set to LEOPARD syndrome 2 611554; Noonan syndrome 5 611553
Adult solid tumours cancer susceptibility v1.4 PTPN11 Ivone Leong gene: PTPN11 was added
gene: PTPN11 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PTPN11 were set to 23875798
Phenotypes for gene: PTPN11 were set to Noonan syndrome
Adult solid tumours cancer susceptibility v1.4 NRAS Ivone Leong gene: NRAS was added
gene: NRAS was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: NRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NRAS were set to 23875798
Phenotypes for gene: NRAS were set to Cardio-Facio-cutanenous syndrome; Noonan syndrome 6 613224; CFC Syndrome
Adult solid tumours cancer susceptibility v1.4 KRAS Ivone Leong gene: KRAS was added
gene: KRAS was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KRAS were set to 23875798
Phenotypes for gene: KRAS were set to Noonan syndrome 3 609942; Cardiofaciocutaneous syndrome 2 615278
Adult solid tumours cancer susceptibility v1.4 HRAS Ivone Leong gene: HRAS was added
gene: HRAS was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HRAS were set to 23875798
Phenotypes for gene: HRAS were set to Costello syndrome
Adult solid tumours cancer susceptibility v1.4 ERCC4 Ivone Leong gene: ERCC4 was added
gene: ERCC4 was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: ERCC4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERCC4 were set to Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, group F, 278760
Adult solid tumours cancer susceptibility v1.4 CBL Ivone Leong gene: CBL was added
gene: CBL was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: CBL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CBL were set to 23875798
Phenotypes for gene: CBL were set to Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563
Adult solid tumours cancer susceptibility v1.4 EXT2 Ivone Leong Source NHS GMS was added to EXT2.
Adult solid tumours cancer susceptibility v1.4 EXT1 Ivone Leong Source NHS GMS was added to EXT1.
Adult solid tumours cancer susceptibility v1.4 CHEK2 Ivone Leong Source NHS GMS was added to CHEK2.
Adult solid tumours cancer susceptibility v1.4 AIP Ivone Leong Source NHS GMS was added to AIP.
Adult solid tumours cancer susceptibility v1.4 WT1 Ivone Leong Source NHS GMS was added to WT1.
Adult solid tumours cancer susceptibility v1.4 VHL Ivone Leong Source NHS GMS was added to VHL.
Adult solid tumours cancer susceptibility v1.4 TSC2 Ivone Leong Source NHS GMS was added to TSC2.
Adult solid tumours cancer susceptibility v1.4 TSC1 Ivone Leong Source NHS GMS was added to TSC1.
Adult solid tumours cancer susceptibility v1.4 TP53 Ivone Leong Source NHS GMS was added to TP53.
Adult solid tumours cancer susceptibility v1.4 TMEM127 Ivone Leong Source NHS GMS was added to TMEM127.
Adult solid tumours cancer susceptibility v1.4 SUFU Ivone Leong Source NHS GMS was added to SUFU.
Adult solid tumours cancer susceptibility v1.4 STK11 Ivone Leong Source NHS GMS was added to STK11.
Adult solid tumours cancer susceptibility v1.4 SMARCB1 Ivone Leong Source NHS GMS was added to SMARCB1.
Adult solid tumours cancer susceptibility v1.4 SMARCA4 Ivone Leong Source NHS GMS was added to SMARCA4.
Adult solid tumours cancer susceptibility v1.4 SMAD4 Ivone Leong Source NHS GMS was added to SMAD4.
Adult solid tumours cancer susceptibility v1.4 SDHD Ivone Leong Source NHS GMS was added to SDHD.
Adult solid tumours cancer susceptibility v1.4 SDHC Ivone Leong Source NHS GMS was added to SDHC.
Adult solid tumours cancer susceptibility v1.4 SDHB Ivone Leong Source NHS GMS was added to SDHB.
Adult solid tumours cancer susceptibility v1.4 SDHAF2 Ivone Leong Source NHS GMS was added to SDHAF2.
Adult solid tumours cancer susceptibility v1.4 SDHA Ivone Leong Source NHS GMS was added to SDHA.
Adult solid tumours cancer susceptibility v1.4 RET Ivone Leong Source NHS GMS was added to RET.
Adult solid tumours cancer susceptibility v1.4 RB1 Ivone Leong Source NHS GMS was added to RB1.
Adult solid tumours cancer susceptibility v1.4 RAD51D Ivone Leong Source NHS GMS was added to RAD51D.
Adult solid tumours cancer susceptibility v1.4 RAD51C Ivone Leong Source NHS GMS was added to RAD51C.
Adult solid tumours cancer susceptibility v1.4 PTEN Ivone Leong Source NHS GMS was added to PTEN.
Adult solid tumours cancer susceptibility v1.4 PTCH1 Ivone Leong Source NHS GMS was added to PTCH1.
Adult solid tumours cancer susceptibility v1.4 POLE Ivone Leong Source NHS GMS was added to POLE.
Adult solid tumours cancer susceptibility v1.4 POLD1 Ivone Leong Source NHS GMS was added to POLD1.
Adult solid tumours cancer susceptibility v1.4 PMS2 Ivone Leong Source NHS GMS was added to PMS2.
Adult solid tumours cancer susceptibility v1.4 PALB2 Ivone Leong Source NHS GMS was added to PALB2.
Adult solid tumours cancer susceptibility v1.4 NTHL1 Ivone Leong Source NHS GMS was added to NTHL1.
Adult solid tumours cancer susceptibility v1.4 NF2 Ivone Leong Source NHS GMS was added to NF2.
Adult solid tumours cancer susceptibility v1.4 NF1 Ivone Leong Source NHS GMS was added to NF1.
Adult solid tumours cancer susceptibility v1.4 MUTYH Ivone Leong Source NHS GMS was added to MUTYH.
Adult solid tumours cancer susceptibility v1.4 MSH6 Ivone Leong Source NHS GMS was added to MSH6.
Adult solid tumours cancer susceptibility v1.4 MSH2 Ivone Leong Source NHS GMS was added to MSH2.
Adult solid tumours cancer susceptibility v1.4 MLH1 Ivone Leong Source NHS GMS was added to MLH1.
Adult solid tumours cancer susceptibility v1.4 MET Ivone Leong Source NHS GMS was added to MET.
Adult solid tumours cancer susceptibility v1.4 MEN1 Ivone Leong Source NHS GMS was added to MEN1.
Adult solid tumours cancer susceptibility v1.4 MAX Ivone Leong Source NHS GMS was added to MAX.
Adult solid tumours cancer susceptibility v1.4 KIT Ivone Leong Source NHS GMS was added to KIT.
Adult solid tumours cancer susceptibility v1.4 FLCN Ivone Leong Source NHS GMS was added to FLCN.
Adult solid tumours cancer susceptibility v1.4 FH Ivone Leong Source NHS GMS was added to FH.
Adult solid tumours cancer susceptibility v1.4 EPCAM Ivone Leong Source NHS GMS was added to EPCAM.
Adult solid tumours cancer susceptibility v1.4 DICER1 Ivone Leong Source NHS GMS was added to DICER1.
Adult solid tumours cancer susceptibility v1.4 CDKN2A Ivone Leong Source NHS GMS was added to CDKN2A.
Adult solid tumours cancer susceptibility v1.4 CDKN1B Ivone Leong Source NHS GMS was added to CDKN1B.
Adult solid tumours cancer susceptibility v1.4 CDK4 Ivone Leong Source NHS GMS was added to CDK4.
Adult solid tumours cancer susceptibility v1.4 CDH1 Ivone Leong Source NHS GMS was added to CDH1.
Adult solid tumours cancer susceptibility v1.4 CDC73 Ivone Leong Source NHS GMS was added to CDC73.
Adult solid tumours cancer susceptibility v1.4 BRIP1 Ivone Leong Source NHS GMS was added to BRIP1.
Adult solid tumours cancer susceptibility v1.4 BRCA2 Ivone Leong Source NHS GMS was added to BRCA2.
Adult solid tumours cancer susceptibility v1.4 BRCA1 Ivone Leong Source NHS GMS was added to BRCA1.
Adult solid tumours cancer susceptibility v1.4 BMPR1A Ivone Leong Source NHS GMS was added to BMPR1A.
Adult solid tumours cancer susceptibility v1.4 BAP1 Ivone Leong Source NHS GMS was added to BAP1.
Adult solid tumours cancer susceptibility v1.4 ATM Ivone Leong Source NHS GMS was added to ATM.
Adult solid tumours cancer susceptibility v1.4 APC Ivone Leong Source NHS GMS was added to APC.
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 NTHL1 Ivone Leong Added phenotypes Familial adenomatous polyposis 3 616415 for gene: NTHL1
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 GREM1 Ivone Leong Added phenotypes Hereditary Mixed Polyposis Syndrome; Oligosyndactyly of the hands, Cenani-Linz-like (Dimitrov (2010) J Med Genet 47,569); Polyposis Syndrome, Hereditary Mixed, 1; Mixed polyposis syndrome (Jaeger (2012) Nat Genet 44,699); {Colorectal cancer, increased risk, association with}(Peters (2012) Hum Genet 131,217) for gene: GREM1
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 STK11 Ivone Leong Added phenotypes Peutz-Jeghers syndrome 175200 for gene: STK11
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 SMAD4 Ivone Leong Added phenotypes Polyposis, juvenile intestinal, 174900; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, 175050 for gene: SMAD4
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 PTEN Ivone Leong Added phenotypes Bannayan-Riley-Ruvalcaba syndrome 153480 AD; Cowden syndrome 1 158350; PTEN hamartoma tumor syndrome for gene: PTEN
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 POLE Ivone Leong Added phenotypes {Colorectal cancer, susceptibility to, 12} 615083 AD for gene: POLE
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 POLD1 Ivone Leong Added phenotypes {Colorectal cancer, susceptibility to, 10} 612591 for gene: POLD1
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 PMS2 Ivone Leong Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4 614337; Mismatch repair cancer syndrome 276300 AR for gene: PMS2
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 MUTYH Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer High Risk Adenomas, multiple colorectal 608456 for gene: MUTYH
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 MSH6 Ivone Leong Added phenotypes Mismatch repair cancer syndrome 276300 AR; Colorectal cancer, hereditary nonpolyposis, type 5 614350 AD; Endometrial cancer, familial 608089 for gene: MSH6
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 MSH2 Ivone Leong Added phenotypes Muir-Torre syndrome 158320 AD; Colorectal cancer, hereditary nonpolyposis, type 1 120435 AD; Mismatch repair cancer syndrome 276300 AR for gene: MSH2
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 MLH1 Ivone Leong Added phenotypes Mismatch repair cancer syndrome 276300 AR; Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer; Muir-Torre syndrome 158320 AD for gene: MLH1
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 EPCAM Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer; High Risk Colorectal Cancer for gene: EPCAM
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 BMPR1A Ivone Leong Added phenotypes Gastrointestinal and Colorectal Cancer; Polyposis syndrome, hereditary mixed, 2, 610069; Juvenile polyposis syndrome, infantile form, 174900; Juvenile Polyposis Syndrome; Polyposis, juvenile intestinal, 174900; High Risk Colorectal Cancer; juvenile polyposis for gene: BMPR1A
Inherited polyposis and early onset colorectal cancer - germline testing v0.50 APC Ivone Leong Added phenotypes Desmoid disease, hereditary 135290; Brain tumor-polyposis syndrome 2 175100; Gardner syndrome 175100; Adenomatous polyposis coli 175100 for gene: APC
Childhood solid tumours v1.28 Ivone Leong List of related panels changed from Paediatric congenital malformation-dysmorphism-tumour syndrome; Paediatric congenital malformation-dysmorphism-tumour syndromes; Paediatric congenital malformation-dysmorphism-tumour sydromes; Paediatric congenital malformation-dysmorphism-tumour syndrome to Paediatric congenital malformation-dysmorphism-tumour syndrome; Paediatric congenital malformation-dysmorphism-tumour syndromes; Paediatric congenital malformation-dysmorphism-tumour sydromes; Paediatric congenital malformation-dysmorphism-tumour syndrome; R359
Childhood solid tumours v1.27 SOS2 Ivone Leong reviewed gene: SOS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 RIT1 Ivone Leong reviewed gene: RIT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 PPP1CB Ivone Leong reviewed gene: PPP1CB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 LZTR1 Ivone Leong reviewed gene: LZTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 WRAP53 Ivone Leong reviewed gene: WRAP53: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 TERC Ivone Leong reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 BRCA1 Ivone Leong reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 SPRED1 Ivone Leong reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 SPRED1 Anna de Burca reviewed gene: SPRED1: Rating: RED; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 POLH Ivone Leong reviewed gene: POLH: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 24877075, 30511002, 11773631; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 RTEL1 Ivone Leong reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24582487; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 DKC1 Ivone Leong reviewed gene: DKC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 ACD Ivone Leong reviewed gene: ACD: Rating: AMBER; Mode of pathogenicity: ; Publications: 25233904, 25205116; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 XPC Ivone Leong reviewed gene: XPC: Rating: GREEN; Mode of pathogenicity: ; Publications: 26975629, 30565713, 21097776; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 XPA Ivone Leong reviewed gene: XPA: Rating: GREEN; Mode of pathogenicity: ; Publications: 26975629, 30565713, 21097776; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 TERT Ivone Leong reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: 22285015; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 MAP2K2 Ivone Leong reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 MAP2K2 Anna de Burca reviewed gene: MAP2K2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 MAP2K1 Ivone Leong reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 MAP2K1 Anna de Burca reviewed gene: MAP2K1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 ERCC5 Ivone Leong reviewed gene: ERCC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 9096355, 7951246, 23255472, 1206391, 10026181, 11841555, 26884178; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 ERCC3 Ivone Leong reviewed gene: ERCC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16947863, 26884178; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 ERCC2 Ivone Leong reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 28376890; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 DDB2 Ivone Leong reviewed gene: DDB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26884178, 21107348, 104693112, 12812979; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 BRAF Ivone Leong reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 BRAF Anna de Burca reviewed gene: BRAF: Rating: AMBER; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 WT1 Ivone Leong reviewed gene: WT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 WRN Ivone Leong reviewed gene: WRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 VHL Ivone Leong reviewed gene: VHL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 TSC2 Ivone Leong reviewed gene: TSC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 TSC1 Ivone Leong reviewed gene: TSC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 TRIP13 Ivone Leong reviewed gene: TRIP13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 TRIM37 Ivone Leong reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 TP53 Ivone Leong reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 SUFU Ivone Leong commented on gene: SUFU: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Childhood solid tumours v1.27 STK11 Ivone Leong reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 SOS1 Ivone Leong reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 SOS1 Anna de Burca reviewed gene: SOS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 SMARCB1 Ivone Leong reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 SMARCA4 Ivone Leong reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 SMAD4 Ivone Leong reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 SLX4 Ivone Leong reviewed gene: SLX4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 SHOC2 Ivone Leong reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 SHOC2 Anna de Burca reviewed gene: SHOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 RET Ivone Leong reviewed gene: RET: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 REST Ivone Leong reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 RECQL4 Ivone Leong reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 RB1 Ivone Leong reviewed gene: RB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 RAF1 Ivone Leong reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 RAF1 Anna de Burca reviewed gene: RAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 PTPN11 Ivone Leong reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 PTPN11 Anna de Burca reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 PTEN Ivone Leong reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 PTCH1 Ivone Leong reviewed gene: PTCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 PRKAR1A Ivone Leong reviewed gene: PRKAR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 PMS2 Ivone Leong reviewed gene: PMS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 PHOX2B Ivone Leong reviewed gene: PHOX2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 PDGFRB Ivone Leong reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 PDGFRA Ivone Leong commented on gene: PDGFRA: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green
Childhood solid tumours v1.27 PALB2 Ivone Leong reviewed gene: PALB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 NSD1 Ivone Leong reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 NRAS Ivone Leong reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 NRAS Anna de Burca reviewed gene: NRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 NF2 Ivone Leong reviewed gene: NF2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 NF1 Ivone Leong reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 NF1 Anna de Burca reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 NBN Ivone Leong reviewed gene: NBN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 MSH6 Ivone Leong reviewed gene: MSH6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 MSH2 Ivone Leong reviewed gene: MSH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 MLH1 Ivone Leong reviewed gene: MLH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 MEN1 Ivone Leong reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 KRAS Ivone Leong reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 KRAS Anna de Burca reviewed gene: KRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 HRAS Ivone Leong reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 HRAS Anna de Burca reviewed gene: HRAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 GPC3 Ivone Leong reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 FANCL Ivone Leong reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 FANCI Ivone Leong reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 FANCG Ivone Leong reviewed gene: FANCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 FANCF Ivone Leong reviewed gene: FANCF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 FANCE Ivone Leong reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 FANCD2 Ivone Leong reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 FANCC Ivone Leong reviewed gene: FANCC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 FANCB Ivone Leong reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 FANCA Ivone Leong reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 EZH2 Ivone Leong reviewed gene: EZH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 ERCC4 Ivone Leong reviewed gene: ERCC4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 DIS3L2 Ivone Leong reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 DICER1 Ivone Leong reviewed gene: DICER1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 CDKN1C Ivone Leong reviewed gene: CDKN1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 CDC73 Ivone Leong reviewed gene: CDC73: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 CBL Ivone Leong reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 CBL Anna de Burca reviewed gene: CBL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23875798; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 BUB1B Ivone Leong reviewed gene: BUB1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 BRIP1 Ivone Leong reviewed gene: BRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 BRCA2 Ivone Leong reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 BMPR1A Ivone Leong commented on gene: BMPR1A: As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.
Childhood solid tumours v1.27 BLM Ivone Leong reviewed gene: BLM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 ATM Ivone Leong reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 APC Ivone Leong reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.27 ALK Ivone Leong reviewed gene: ALK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Childhood solid tumours v1.26 WRAP53 Ivone Leong gene: WRAP53 was added
gene: WRAP53 was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: WRAP53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRAP53 were set to 22285015
Phenotypes for gene: WRAP53 were set to Dyskeratosis congenita, autosomal recessive 3, 613988
Childhood solid tumours v1.26 TINF2 Ivone Leong gene: TINF2 was added
gene: TINF2 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TINF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TINF2 were set to Dyskeratosis congenita, autosomal dominant 3, 613990
Childhood solid tumours v1.26 TERC Ivone Leong gene: TERC was added
gene: TERC was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TERC were set to 22285015
Phenotypes for gene: TERC were set to Dyskeratosis congenita, autosomal dominant 1, 127550
Childhood solid tumours v1.26 BRCA1 Ivone Leong Source Expert Review Green was added to BRCA1.
Source NHS GMS was added to BRCA1.
Mode of inheritance for gene BRCA1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hereditary Breast and Ovarian Cancer for gene: BRCA1
Publications for gene BRCA1 were changed from to 23788249
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 SPRED1 Ivone Leong gene: SPRED1 was added
gene: SPRED1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS
Mode of inheritance for gene: SPRED1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPRED1 were set to 23875798
Phenotypes for gene: SPRED1 were set to Legius syndrome 611431
Childhood solid tumours v1.26 NOP10 Ivone Leong Source NHS GMS was added to NOP10.
Mode of inheritance for gene NOP10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dyskeratosis Congenita for gene: NOP10
Publications for gene NOP10 were changed from to 22965356
Childhood solid tumours v1.26 NHP2 Ivone Leong Source NHS GMS was added to NHP2.
Mode of inheritance for gene NHP2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Dyskeratosis Congenita for gene: NHP2
Publications for gene NHP2 were changed from to 22965356
Childhood solid tumours v1.26 POLH Ivone Leong gene: POLH was added
gene: POLH was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: POLH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLH were set to 24877075; 11773631; 26884178; 30511002
Phenotypes for gene: POLH were set to Xeroderma pigmentosum, variant type, 278750
Childhood solid tumours v1.26 RTEL1 Ivone Leong gene: RTEL1 was added
gene: RTEL1 was added to Tumour predisposition - childhood onset. Sources: Expert Review Green,NHS GMS
Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RTEL1 were set to 23453664; 23329068; 23959892; 24582487
Phenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5 615190; 615190 DC type 4 and 5; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related; Dyskeratosis congenita, autosomal dominant 4, 615190; Dyskeratosis congenita, autosomal recessive 5, 615190; 615190 Dyskeratosis congenita; 616373 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3
Childhood solid tumours v1.26 PARN Ivone Leong gene: PARN was added
gene: PARN was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PARN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PARN were set to 25893599; 26342108; 25848748
Phenotypes for gene: PARN were set to 616353 Dyskeratosis congenita, autosomal recessive 6; 616371 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4
Childhood solid tumours v1.26 DKC1 Ivone Leong gene: DKC1 was added
gene: DKC1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DKC1 were set to 12522253; 11379875; 20587522; 31027506; 18005359; 9888995; 10364516
Phenotypes for gene: DKC1 were set to Dyskeratosis congenita, autosomal recessive 6, 616353
Childhood solid tumours v1.26 CTC1 Ivone Leong gene: CTC1 was added
gene: CTC1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CTC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTC1 were set to 22387016; 22899577; 22267198; 22532422
Phenotypes for gene: CTC1 were set to Dyskeratosis congenita; Cerebroretinal microangiopathy with calcifications and cysts/CTC1 related Dyskeratosis Congenita; Inherited Bone Marrow Failure Syndromes; Dyskeratosis Congenita, Recessive; 612199 Coats plus syndrome
Childhood solid tumours v1.26 ACD Ivone Leong gene: ACD was added
gene: ACD was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ACD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ACD were set to 25233904; 25205116
Phenotypes for gene: ACD were set to 616553 ?Dyskeratosis congenita 6 and 7
Childhood solid tumours v1.26 SOS2 Ivone Leong gene: SOS2 was added
gene: SOS2 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SOS2 were set to Noonan syndrome 9 616559
Childhood solid tumours v1.26 RIT1 Ivone Leong gene: RIT1 was added
gene: RIT1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RIT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RIT1 were set to Noonan syndrome 8 615355
Childhood solid tumours v1.26 PPP1CB Ivone Leong gene: PPP1CB was added
gene: PPP1CB was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PPP1CB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPP1CB were set to Rasopathy with developmental delay, short stature and sparse slow-growing hair; Noonan syndrome-like disorder with loose anagen hair 2, 617506
Childhood solid tumours v1.26 LZTR1 Ivone Leong gene: LZTR1 was added
gene: LZTR1 was added to Tumour predisposition - childhood onset. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LZTR1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: LZTR1 were set to Noonan syndrome 10 616564; Schwannomatosis-2, susceptibility to 615670
Childhood solid tumours v1.26 XPC Ivone Leong Source Expert Review Green was added to XPC.
Source NHS GMS was added to XPC.
Mode of inheritance for gene XPC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xeroderma pigmentosum, group C, 278720 for gene: XPC
Publications for gene XPC were changed from to 21097776; 22044607; 26975629; 30565713
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 XPA Ivone Leong Source Expert Review Green was added to XPA.
Source NHS GMS was added to XPA.
Mode of inheritance for gene XPA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xeroderma pigmentosum, group A, 278700 for gene: XPA
Publications for gene XPA were changed from to 21097776; 26975629; 30565713; 26884178
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 TERT Ivone Leong Source Expert Review Green was added to TERT.
Source NHS GMS was added to TERT.
Mode of inheritance for gene TERT was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989 for gene: TERT
Publications for gene TERT were changed from to 22965356; 22285015
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 RAD51C Ivone Leong Source NHS GMS was added to RAD51C.
Added phenotypes Fanconi Anemia for gene: RAD51C
Publications for gene RAD51C were changed from to 19686080
Childhood solid tumours v1.26 MAP2K2 Ivone Leong Source NHS GMS was added to MAP2K2.
Source Expert Review Amber was added to MAP2K2.
Mode of inheritance for gene MAP2K2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cardiofaciocutaneous syndrome 4 615280 for gene: MAP2K2
Publications for gene MAP2K2 were changed from to 23875798
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood solid tumours v1.26 MAP2K1 Ivone Leong Source NHS GMS was added to MAP2K1.
Source Expert Review Amber was added to MAP2K1.
Mode of inheritance for gene MAP2K1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cardiofaciocutaneous Syndrome; Cardio-Facio-Cutaneous syndrome; CFC syndrome; LEOPARD syndrome; Cardiofaciocutaneous syndrome 3; ?Noonan syndrome for gene: MAP2K1
Publications for gene MAP2K1 were changed from to 23875798
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood solid tumours v1.26 ERCC5 Ivone Leong Source Expert Review Green was added to ERCC5.
Source NHS GMS was added to ERCC5.
Mode of inheritance for gene ERCC5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xeroderma pigmentosum, group G, 278780 for gene: ERCC5
Publications for gene ERCC5 were changed from to 26884178; 10026181; 7951246; 11841555; 9096355; 23255472; 1206391
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 ERCC3 Ivone Leong Source Expert Review Green was added to ERCC3.
Source NHS GMS was added to ERCC3.
Mode of inheritance for gene ERCC3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xeroderma pigmentosum, group B, 610651 for gene: ERCC3
Publications for gene ERCC3 were changed from to 26884178; 16947863
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 ERCC2 Ivone Leong Source Expert Review Green was added to ERCC2.
Source NHS GMS was added to ERCC2.
Mode of inheritance for gene ERCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xeroderma pigmentosum, group D, 278730 for gene: ERCC2
Publications for gene ERCC2 were changed from to 26884178; 28376890
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 ERCC1 Ivone Leong Source NHS GMS was added to ERCC1.
Source Expert Review Amber was added to ERCC1.
Mode of inheritance for gene ERCC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xeroderma Pigmentosa; Cerebrooculofacioskeletal syndrome 4, 610758 for gene: ERCC1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood solid tumours v1.26 DDB2 Ivone Leong Source Expert Review Green was added to DDB2.
Source NHS GMS was added to DDB2.
Mode of inheritance for gene DDB2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 for gene: DDB2
Publications for gene DDB2 were changed from to 12812979; 21107348; 26884178; 104693112
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 BRAF Ivone Leong Source NHS GMS was added to BRAF.
Source Expert Review Amber was added to BRAF.
Mode of inheritance for gene BRAF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cardiofaciocutaneous syndrome 115150; Noonan syndrome 7 613706; LEOPARD syndrome 3 613707 for gene: BRAF
Publications for gene BRAF were changed from to 23875798
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Childhood solid tumours v1.26 WT1 Ivone Leong Source NHS GMS was added to WT1.
Mode of inheritance for gene WT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Familial Wilms tumor for gene: WT1
Publications for gene WT1 were changed from 15483024 to 23788249
Childhood solid tumours v1.26 WRN Ivone Leong Source NHS GMS was added to WRN.
Added phenotypes Werner Syndrome for gene: WRN
Publications for gene WRN were changed from to 10440702
Childhood solid tumours v1.26 VHL Ivone Leong Source NHS GMS was added to VHL.
Mode of inheritance for gene VHL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Familial Paraganglioma and Pheochromocytoma for gene: VHL
Publications for gene VHL were changed from to 23788249
Childhood solid tumours v1.26 TSC2 Ivone Leong Source NHS GMS was added to TSC2.
Mode of inheritance for gene TSC2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Tuberous sclerosis type 2 for gene: TSC2
Publications for gene TSC2 were changed from 24053982 to 23788249
Childhood solid tumours v1.26 TSC1 Ivone Leong Source NHS GMS was added to TSC1.
Mode of inheritance for gene TSC1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Tuberous sclerosis type 1 for gene: TSC1
Publications for gene TSC1 were changed from 24053982 to 23788249
Childhood solid tumours v1.26 TRIP13 Ivone Leong Source NHS GMS was added to TRIP13.
Added phenotypes Mosaic variegated aneuploidy syndrome 3 617598 for gene: TRIP13
Childhood solid tumours v1.26 TRIM37 Ivone Leong Source NHS GMS was added to TRIM37.
Added phenotypes Mulibrey nanism 253250 for gene: TRIM37
Childhood solid tumours v1.26 TP53 Ivone Leong Source NHS GMS was added to TP53.
Mode of inheritance for gene TP53 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Li Fraumeni Syndrome for gene: TP53
Publications for gene TP53 were changed from to 23788249
Childhood solid tumours v1.26 SUFU Ivone Leong Source NHS GMS was added to SUFU.
Mode of inheritance for gene SUFU was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes SUFU associated Medulloblastoma for gene: SUFU
Publications for gene SUFU were changed from 19533801; 29186568; 22829011; 25403219 to 19533801
Childhood solid tumours v1.26 STK11 Ivone Leong Source NHS GMS was added to STK11.
Mode of inheritance for gene STK11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Peutz Jeghers syndrome for gene: STK11
Publications for gene STK11 were changed from to 23788249
Childhood solid tumours v1.26 SOS1 Ivone Leong Source Expert Review Green was added to SOS1.
Source NHS GMS was added to SOS1.
Mode of inheritance for gene SOS1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Noonan syndrome 4 610733 for gene: SOS1
Publications for gene SOS1 were changed from to 23875798
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 SMARCB1 Ivone Leong Source NHS GMS was added to SMARCB1.
Mode of inheritance for gene SMARCB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Atypical rhabdoid tumor predisposition for gene: SMARCB1
Publications for gene SMARCB1 were changed from 10521299 to 12016529
Childhood solid tumours v1.26 SMARCA4 Ivone Leong Source NHS GMS was added to SMARCA4.
Mode of inheritance for gene SMARCA4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes predisposition to small cell ca; Ovary with hypercalcemia for gene: SMARCA4
Publications for gene SMARCA4 were changed from 20137775 to 24658002
Childhood solid tumours v1.26 SMAD4 Ivone Leong Source NHS GMS was added to SMAD4.
Mode of inheritance for gene SMAD4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Juvenile Polyposis; Hereditary Hemorrhagic Telangiectasia for gene: SMAD4
Publications for gene SMAD4 were changed from to 15754356
Childhood solid tumours v1.26 SLX4 Ivone Leong Source NHS GMS was added to SLX4.
Added phenotypes Fanconi anemia, complementation group P, 613951 for gene: SLX4
Childhood solid tumours v1.26 SHOC2 Ivone Leong Source Expert Review Green was added to SHOC2.
Source NHS GMS was added to SHOC2.
Mode of inheritance for gene SHOC2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Noonan-like syndrome with loose anagen hair for gene: SHOC2
Publications for gene SHOC2 were changed from to 19684605; 23875798
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 RET Ivone Leong Source NHS GMS was added to RET.
Mode of inheritance for gene RET was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Multiple Endocrine Neoplasia for gene: RET
Publications for gene RET were changed from 17963006 to 23788249
Childhood solid tumours v1.26 REST Ivone Leong Source NHS GMS was added to REST.
Added phenotypes {Wilms tumor 6, susceptibility to} 616806 for gene: REST
Childhood solid tumours v1.26 RECQL4 Ivone Leong Source NHS GMS was added to RECQL4.
Added phenotypes Rothmund Thomson Syndrome for gene: RECQL4
Publications for gene RECQL4 were changed from 11471165 to 20503338
Childhood solid tumours v1.26 RB1 Ivone Leong Source NHS GMS was added to RB1.
Mode of inheritance for gene RB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Retinoblastoma for gene: RB1
Publications for gene RB1 were changed from to 23788249
Childhood solid tumours v1.26 RAF1 Ivone Leong Source Expert Review Green was added to RAF1.
Source NHS GMS was added to RAF1.
Mode of inheritance for gene RAF1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes LEOPARD syndrome 2 611554; Noonan syndrome 5 611553 for gene: RAF1
Publications for gene RAF1 were changed from to 17603482; 23875798
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 PTPN11 Ivone Leong Source NHS GMS was added to PTPN11.
Mode of inheritance for gene PTPN11 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Noonan syndrome for gene: PTPN11
Publications for gene PTPN11 were changed from 25683281 to 23926459; 23875798
Childhood solid tumours v1.26 PTEN Ivone Leong Source NHS GMS was added to PTEN.
Mode of inheritance for gene PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cowden syndrome for gene: PTEN
Publications for gene PTEN were changed from to 4635800
Childhood solid tumours v1.26 PTCH1 Ivone Leong Source NHS GMS was added to PTCH1.
Mode of inheritance for gene PTCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Gorlin syndrome for gene: PTCH1
Publications for gene PTCH1 were changed from 8326488 to 13851319
Childhood solid tumours v1.26 PRKAR1A Ivone Leong Source Expert Review Green was added to PRKAR1A.
Source NHS GMS was added to PRKAR1A.
Mode of inheritance for gene PRKAR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Familial Primary Pigmented Nodular Adrenocortical disease; Carney Complex for gene: PRKAR1A
Publications for gene PRKAR1A were changed from to 11115848
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 PMS2 Ivone Leong Source NHS GMS was added to PMS2.
Added phenotypes CMMRD; Lynch Syndrome for gene: PMS2
Publications for gene PMS2 were changed from 17613548 to 23788249
Childhood solid tumours v1.26 PHOX2B Ivone Leong Source NHS GMS was added to PHOX2B.
Mode of inheritance for gene PHOX2B was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Familial Clustering of Neuroblastoma for gene: PHOX2B
Publications for gene PHOX2B were changed from to 22071890
Childhood solid tumours v1.26 PDGFRB Ivone Leong Source NHS GMS was added to PDGFRB.
Mode of inheritance for gene PDGFRB was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Infantile myofibromatosis; Myofibromatosis, infantile, 1 228550 for gene: PDGFRB
Publications for gene PDGFRB were changed from 23731537; 23731542 to 23731542; 23731537
Childhood solid tumours v1.26 PDGFRA Ivone Leong Source NHS GMS was added to PDGFRA.
Mode of inheritance for gene PDGFRA was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Gastrointestinal stromal tumor, somatic 606764; Familial GIST for gene: PDGFRA
Childhood solid tumours v1.26 PALB2 Ivone Leong Source NHS GMS was added to PALB2.
Added phenotypes Fanconi Anemia for gene: PALB2
Publications for gene PALB2 were changed from to 17200671
Childhood solid tumours v1.26 NSD1 Ivone Leong Source NHS GMS was added to NSD1.
Added phenotypes Sotos syndrome 1, 117550 for gene: NSD1
Childhood solid tumours v1.26 NRAS Ivone Leong Source NHS GMS was added to NRAS.
Mode of inheritance for gene NRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cardio-Facio-cutanenous syndrome; Noonan syndrome 6 613224; CFC Syndrome for gene: NRAS
Publications for gene NRAS were changed from to 23875798
Childhood solid tumours v1.26 NF2 Ivone Leong Source NHS GMS was added to NF2.
Mode of inheritance for gene NF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Acoustic neuroma for gene: NF2
Publications for gene NF2 were changed from to 23788249
Childhood solid tumours v1.26 NF1 Ivone Leong Source NHS GMS was added to NF1.
Mode of inheritance for gene NF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Neurofibromatosis-Noonan syndrome 601321; Neurofibromatosis, type 1 162200 for gene: NF1
Publications for gene NF1 were changed from to 18772890; 23875798
Childhood solid tumours v1.26 NBN Ivone Leong Source NHS GMS was added to NBN.
Added phenotypes Nijmegen Breakage Syndrome for gene: NBN
Publications for gene NBN were changed from 22373003 to 12833396
Childhood solid tumours v1.26 MSH6 Ivone Leong Source NHS GMS was added to MSH6.
Added phenotypes CMMRD; Lynch Syndrome for gene: MSH6
Publications for gene MSH6 were changed from 17613548 to 23788249
Childhood solid tumours v1.26 MSH2 Ivone Leong Source NHS GMS was added to MSH2.
Added phenotypes CMMRD; Lynch Syndrome for gene: MSH2
Publications for gene MSH2 were changed from 17613548 to 23788249
Childhood solid tumours v1.26 MLH1 Ivone Leong Source NHS GMS was added to MLH1.
Added phenotypes CMMRD; Lynch Syndrome for gene: MLH1
Publications for gene MLH1 were changed from 17613548 to 23788249
Childhood solid tumours v1.26 MEN1 Ivone Leong Source NHS GMS was added to MEN1.
Mode of inheritance for gene MEN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Multiple Endocrine Neoplasia for gene: MEN1
Publications for gene MEN1 were changed from to 23788249
Childhood solid tumours v1.26 KRAS Ivone Leong Source Expert Review Green was added to KRAS.
Source NHS GMS was added to KRAS.
Mode of inheritance for gene KRAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Noonan syndrome 3 609942; Cardiofaciocutaneous syndrome 2 615278 for gene: KRAS
Publications for gene KRAS were changed from to 23875798
Rating Changed from Red List (low evidence) to Green List (high evidence)
Childhood solid tumours v1.26 HRAS Ivone Leong Source NHS GMS was added to HRAS.
Mode of inheritance for gene HRAS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Costello syndrome for gene: HRAS
Publications for gene HRAS were changed from to 23875798
Childhood solid tumours v1.26 GPC3 Ivone Leong Source NHS GMS was added to GPC3.
Added phenotypes Simpson-Golabi-Behmel syndrome, type 1, 312870; Wilms tumor, somatic, 194070 for gene: GPC3
Childhood solid tumours v1.26 FANCL Ivone Leong Source NHS GMS was added to FANCL.
Added phenotypes Fanconi Anemia for gene: FANCL
Publications for gene FANCL were changed from to 19686080
Childhood solid tumours v1.26 FANCI Ivone Leong Source NHS GMS was added to FANCI.
Added phenotypes Fanconi Anemia for gene: FANCI
Publications for gene FANCI were changed from to 19686080
Childhood solid tumours v1.26 FANCG Ivone Leong Source NHS GMS was added to FANCG.
Added phenotypes Fanconi Anemia for gene: FANCG
Publications for gene FANCG were changed from to 19686080
Childhood solid tumours v1.26 FANCF Ivone Leong Source NHS GMS was added to FANCF.
Added phenotypes Fanconi Anemia for gene: FANCF
Publications for gene FANCF were changed from to 19686080
Childhood solid tumours v1.26 FANCE Ivone Leong Source NHS GMS was added to FANCE.
Added phenotypes Fanconi Anemia for gene: FANCE
Publications for gene FANCE were changed from to 19686080
Childhood solid tumours v1.26 FANCD2 Ivone Leong Source NHS GMS was added to FANCD2.
Added phenotypes Fanconi Anemia for gene: FANCD2
Publications for gene FANCD2 were changed from to 19686080
Childhood solid tumours v1.26 FANCC Ivone Leong Source NHS GMS was added to FANCC.
Added phenotypes Fanconi Anemia for gene: FANCC
Publications for gene FANCC were changed from to 19686080
Childhood solid tumours v1.26 FANCB Ivone Leong Source NHS GMS was added to FANCB.
Added phenotypes Fanconi anemia, complementation group B, 300514 for gene: FANCB
Childhood solid tumours v1.26 FANCA Ivone Leong Source NHS GMS was added to FANCA.
Added phenotypes Fanconi Anemia for gene: FANCA
Publications for gene FANCA were changed from to 19686080
Childhood solid tumours v1.26 EZH2 Ivone Leong Source NHS GMS was added to EZH2.
Added phenotypes Weaver syndrome, 277590 for gene: EZH2
Childhood solid tumours v1.26 ERCC4 Ivone Leong Source NHS GMS was added to ERCC4.
Added phenotypes Fanconi anemia, complementation group Q, 615272; Xeroderma pigmentosum, group F, 278760 for gene: ERCC4
Publications for gene ERCC4 were changed from to 22044607
Childhood solid tumours v1.26 DIS3L2 Ivone Leong Source NHS GMS was added to DIS3L2.
Added phenotypes Perlman syndrome, 267000 for gene: DIS3L2
Childhood solid tumours v1.26 DICER1 Ivone Leong Source NHS GMS was added to DICER1.
Mode of inheritance for gene DICER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes DICER1 syndrome; Familial Multinodular Goiter for gene: DICER1
Publications for gene DICER1 were changed from 19556464 to 21205968
Childhood solid tumours v1.26 CDKN1C Ivone Leong Source NHS GMS was added to CDKN1C.
Mode of inheritance for gene CDKN1C was changed from MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Beckwith-Wiedemann syndrome for gene: CDKN1C
Publications for gene CDKN1C were changed from to 10424812
Childhood solid tumours v1.26 CDC73 Ivone Leong Source NHS GMS was added to CDC73.
Added phenotypes 145001 for gene: CDC73
Childhood solid tumours v1.26 CBL Ivone Leong Source NHS GMS was added to CBL.
Mode of inheritance for gene CBL was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia 613563 for gene: CBL
Publications for gene CBL were changed from 20619386 to 23875798
Childhood solid tumours v1.26 BUB1B Ivone Leong Source NHS GMS was added to BUB1B.
Added phenotypes Mosaic variegated aneuploidy syndrome 1 257300 for gene: BUB1B
Childhood solid tumours v1.26 BRIP1 Ivone Leong Source NHS GMS was added to BRIP1.
Added phenotypes Fanconi anemia, complementation group J, 609054 for gene: BRIP1
Publications for gene BRIP1 were changed from to 21964575
Childhood solid tumours v1.26 BRCA2 Ivone Leong Source NHS GMS was added to BRCA2.
Added phenotypes Hereditary Breast and Ovarian Cancer for gene: BRCA2
Publications for gene BRCA2 were changed from to 23788249
Childhood solid tumours v1.26 BMPR1A Ivone Leong Source NHS GMS was added to BMPR1A.
Mode of inheritance for gene BMPR1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Hereditary Mixed Polyposis Syndrome for gene: BMPR1A
Publications for gene BMPR1A were changed from 23539595; 12136244; 11536076; 11381269 to 23539595
Childhood solid tumours v1.26 BLM Ivone Leong Source NHS GMS was added to BLM.
Added phenotypes Bloom Syndrome for gene: BLM
Publications for gene BLM were changed from 7585968 to 11257107
Childhood solid tumours v1.26 ATM Ivone Leong Source NHS GMS was added to ATM.
Added phenotypes Ataxia Telangiectasia for gene: ATM
Publications for gene ATM were changed from 9463314 to 9288106
Childhood solid tumours v1.26 APC Ivone Leong Source NHS GMS was added to APC.
Mode of inheritance for gene APC was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Familial Adenomatous Polyposis for gene: APC
Publications for gene APC were changed from 1658283 to 23788249
Childhood solid tumours v1.26 ALK Ivone Leong Source NHS GMS was added to ALK.
Mode of inheritance for gene ALK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Familial neuroblastoma for gene: ALK
Publications for gene ALK were changed from to 18724359
Mitochondrial disorders v1.421 MTPAP Ellen McDonagh Added comment: Comment on mode of inheritance: Confirmed in OMIM
Mitochondrial disorders v1.421 MTPAP Ellen McDonagh Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Familial hypoparathyroidism v1.12 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual
Fetal anomalies v0.326 TRPV6 Rebecca Foulger Classified gene: TRPV6 as Green List (high evidence)
Fetal anomalies v0.326 TRPV6 Rebecca Foulger Added comment: Comment on list classification: Added to panel as Amber based on 'probable' Disease confidence in DDG2P for Transient Neonatal Hyperparathyroidism. Upgraded to Green on advice from Anna de Burca (Genomics England Clinical team) and Rhiannon Mellis (Great Ormond Street Hospital). They note that anomalies may be detected on third trimester scans but actually have a better prognosis in the long term so important diagnostically, and a differential diagnosis for Osteogenesis imperfecta. Plus Helen Brittain (Genomics England Clinical team) has reviewed on TRPV6 on the Skeletal dysplasia panel and notes: "6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones". Therefore sufficient cases and relevant phenotype for inclusion on the Fetal anomalies panel.
Fetal anomalies v0.326 TRPV6 Rebecca Foulger Gene: trpv6 has been classified as Green List (High Evidence).
Limb disorders v1.24 EPHA4 Andrew Wilkie reviewed gene: EPHA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 SOX9 Andrew Wilkie reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 SMAD6 Andrew Wilkie reviewed gene: SMAD6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 STKLD1 Andrew Wilkie reviewed gene: STKLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 POLR1A Andrew Wilkie reviewed gene: POLR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 GZF1 Andrew Wilkie reviewed gene: GZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 SUFU Andrew Wilkie reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 TRAF7 Andrew Wilkie reviewed gene: TRAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 NCAPG2 Andrew Wilkie reviewed gene: NCAPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 NXN Andrew Wilkie reviewed gene: NXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 FZD2 Andrew Wilkie reviewed gene: FZD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 ASXL1 Andrew Wilkie reviewed gene: ASXL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 PAX3 Andrew Wilkie reviewed gene: PAX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 EIF4A3 Andrew Wilkie reviewed gene: EIF4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 CYP26B1 Andrew Wilkie reviewed gene: CYP26B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 ZSWIM6 Andrew Wilkie reviewed gene: ZSWIM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.24 EFNB1 Andrew Wilkie reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Limb disorders v1.23 EPHA4 Eleanor Williams gene: EPHA4 was added
gene: EPHA4 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: EPHA4 was set to Unknown
Review for gene: EPHA4 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Limb disorders v1.22 SMAD6 Eleanor Williams gene: SMAD6 was added
gene: SMAD6 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: SMAD6 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Limb disorders v1.21 STKLD1 Eleanor Williams gene: STKLD1 was added
gene: STKLD1 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: STKLD1 was set to Unknown
Review for gene: STKLD1 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Limb disorders v1.20 POLR1A Eleanor Williams gene: POLR1A was added
gene: POLR1A was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: POLR1A was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Limb disorders v1.19 GZF1 Eleanor Williams gene: GZF1 was added
gene: GZF1 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: GZF1 was set to BIALLELIC, autosomal or pseudoautosomal
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Limb disorders v1.18 SUFU Eleanor Williams gene: SUFU was added
gene: SUFU was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: SUFU was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Ophthalmological ciliopathies v0.9 Ivone Leong Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Limb disorders v1.17 TRAF7 Eleanor Williams gene: TRAF7 was added
gene: TRAF7 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: TRAF7 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Limb disorders v1.16 NCAPG2 Eleanor Williams gene: NCAPG2 was added
gene: NCAPG2 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: NCAPG2 was set to BIALLELIC, autosomal or pseudoautosomal
Review for gene: NCAPG2 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Limb disorders v1.15 NXN Eleanor Williams gene: NXN was added
gene: NXN was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: NXN was set to Unknown
Review for gene: NXN was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Inherited polyposis and early onset colorectal cancer - germline testing v0.49 EPCAM Ivone Leong commented on gene: EPCAM: Deletion of exons 8-9 is associated with polyposis/cancer and therefore testing would be for dosage analysis rather than sequencing. SNVs in EPCAM are not associated with polyposis/cancer.
GI tract tumours v1.16 EPCAM Ivone Leong commented on gene: EPCAM: Deletion of exons 8-9 is associated with polyposis/cancer and therefore testing would be for dosage analysis rather than sequencing. SNVs in EPCAM are not associated with polyposis/cancer.
Fetal anomalies v0.325 TRPV6 Rebecca Foulger Classified gene: TRPV6 as Amber List (moderate evidence)
Fetal anomalies v0.325 TRPV6 Rebecca Foulger Gene: trpv6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.324 TRPV6 Rebecca Foulger gene: TRPV6 was added
gene: TRPV6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRPV6 were set to 29861107
Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism; Hyperparathyroidism, transient neonatal, 618188
Review for gene: TRPV6 was set to AMBER
Added comment: New gene:disorder association added to DDG2P in March 2019: Transient Neonatal Hyperparathyroidism. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
Sources: Literature
Intellectual disability v2.993 PIGB Catherine Snow Classified gene: PIGB as Green List (high evidence)
Intellectual disability v2.993 PIGB Catherine Snow Gene: pigb has been classified as Green List (High Evidence).
Intellectual disability v2.993 PIGB Catherine Snow Classified gene: PIGB as Green List (high evidence)
Intellectual disability v2.993 PIGB Catherine Snow Gene: pigb has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.194 ARMC9 Louise Daugherty Publications for gene: ARMC9 were set to
Hereditary ataxia with onset in adulthood v1.193 ARMC9 Louise Daugherty Mode of inheritance for gene: ARMC9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Hereditary ataxia with onset in adulthood v1.192 ARMC9 Louise Daugherty Phenotypes for gene: ARMC9 were changed from to Joubert syndrome 30, 617622
Hereditary ataxia with onset in adulthood v1.191 MFN2 Louise Daugherty Mode of inheritance for gene: MFN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary ataxia with onset in adulthood v1.190 ADGRG1 Louise Daugherty Mode of inheritance for gene: ADGRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.992 PIGB Catherine Snow reviewed gene: PIGB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.186 PIGB Catherine Snow commented on gene: PIGB
Early onset or syndromic epilepsy v1.186 PIGB Catherine Snow Classified gene: PIGB as Green List (high evidence)
Early onset or syndromic epilepsy v1.186 PIGB Catherine Snow Gene: pigb has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.189 XRCC1 Louise Daugherty Tag watchlist tag was added to gene: XRCC1.
Hereditary ataxia with onset in adulthood v1.189 OPA3 Louise Daugherty changed review comment from: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; to: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green. Confirmed MOI should be AR (Biallelic)
Hereditary ataxia with onset in adulthood v1.188 MVK Louise Daugherty reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.188 SLC9A6 Louise Daugherty reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.188 DAB1 Louise Daugherty edited their review of gene: DAB1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: AMBER
Hereditary ataxia with onset in adulthood v1.188 BEAN1 Louise Daugherty commented on gene: BEAN1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.188 AARS Louise Daugherty commented on gene: AARS: Upgraded rating from Red to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.188 XRCC1 Louise Daugherty commented on gene: XRCC1: Added watchlist tag. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.188 VAMP1 Louise Daugherty commented on gene: VAMP1: Added watchlist tag. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.188 TGM6 Louise Daugherty commented on gene: TGM6: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.188 SLC9A1 Louise Daugherty commented on gene: SLC9A1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 POLG2 Louise Daugherty commented on gene: POLG2: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.188 PDYN Louise Daugherty commented on gene: PDYN: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.188 CACNB4 Louise Daugherty commented on gene: CACNB4: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.188 ATXN8 Louise Daugherty edited their review of gene: ATXN8: Added comment: Downgraded rating from Amber to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red; Changed rating: AMBER
Hereditary ataxia with onset in adulthood v1.188 RELN Louise Daugherty commented on gene: RELN: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.188 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 TPP1 Louise Daugherty commented on gene: TPP1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 PRRT2 Louise Daugherty commented on gene: PRRT2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 NHLRC1 Louise Daugherty commented on gene: NHLRC1: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 MRE11 Louise Daugherty commented on gene: MRE11: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 MARS2 Louise Daugherty commented on gene: MARS2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 FMR1 Louise Daugherty commented on gene: FMR1: Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.188 DNAJC5 Louise Daugherty commented on gene: DNAJC5: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 ATP1A2 Louise Daugherty commented on gene: ATP1A2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 TTC19 Louise Daugherty commented on gene: TTC19: Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.188 TINF2 Louise Daugherty commented on gene: TINF2: Downgraded Green to Red. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Hereditary ataxia with onset in adulthood v1.188 SLC25A46 Louise Daugherty commented on gene: SLC25A46: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 SAR1B Louise Daugherty commented on gene: SAR1B: Downgraded Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.188 OPA3 Louise Daugherty commented on gene: OPA3: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 MORC2 Louise Daugherty commented on gene: MORC2: Downgraded rating from Green to Amber, Green gene for childhood onset. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.188 MFN2 Louise Daugherty commented on gene: MFN2: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 GDAP2 Louise Daugherty commented on gene: GDAP2: Downgraded rating from Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.188 EPM2A Louise Daugherty commented on gene: EPM2A: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Hereditary ataxia with onset in adulthood v1.188 ELOVL5 Louise Daugherty commented on gene: ELOVL5: Downgraded rating from Green to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.188 ARSA Louise Daugherty commented on gene: ARSA: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Ataxia and cerebellar anomalies - narrow panel v1.6 MORC2 Louise Daugherty Classified gene: MORC2 as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v1.6 MORC2 Louise Daugherty Gene: morc2 has been classified as Green List (High Evidence).
Ataxia and cerebellar anomalies - narrow panel v1.5 MORC2 Louise Daugherty gene: MORC2 was added
gene: MORC2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MORC2 were set to 28402445; 27794525
Phenotypes for gene: MORC2 were set to Axonal type CMT disease type 2Z, 616688
Review for gene: MORC2 was set to GREEN
Added comment: Thr362Arg variant has been reported as a de novo event in early onset cerebellar ataxia in two different families. As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green on the childhood panel during the call discussing MORC2 on R52 Hereditary ataxia - adult onset https://panelapp.genomicsengland.co.uk/panels/466/ (where is was decided to rate as Amber)
Sources: Expert list
Hereditary ataxia with onset in adulthood v1.187 MVK Louise Daugherty Source Expert Review Red was added to MVK.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.187 AARS Louise Daugherty Source Expert Review Amber was added to AARS.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.187 TGM6 Louise Daugherty Source Expert Review Red was added to TGM6.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.187 SLC9A1 Louise Daugherty Source Expert Review Green was added to SLC9A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.187 POLG2 Louise Daugherty Source Expert Review Red was added to POLG2.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.187 PDYN Louise Daugherty Source Expert Review Red was added to PDYN.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.187 CACNB4 Louise Daugherty Source Expert Review Red was added to CACNB4.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.187 ATXN8 Louise Daugherty Source Expert Review Red was added to ATXN8.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.187 FMR1 Louise Daugherty Source Expert Review Red was added to FMR1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.187 TTC19 Louise Daugherty Source Expert Review Red was added to TTC19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.187 TINF2 Louise Daugherty Source Expert Review Red was added to TINF2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.187 SAR1B Louise Daugherty Source Expert Review Amber was added to SAR1B.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.187 MORC2 Louise Daugherty Source Expert Review Amber was added to MORC2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.187 GDAP2 Louise Daugherty Source Expert Review Amber was added to GDAP2.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.187 ELOVL5 Louise Daugherty Source Expert Review Amber was added to ELOVL5.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Inherited polyposis and early onset colorectal cancer - germline testing v0.49 Ivone Leong Panel name changed from Inherited polyposis, R211 to Inherited polyposis
List of related panels changed from to R211
GI tract tumours v1.16 EPCAM Ivone Leong Publications for gene: EPCAM were set to
GI tract tumours v1.15 EPCAM Ivone Leong Mode of inheritance for gene: EPCAM was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GI tract tumours v1.14 EPCAM Ivone Leong Classified gene: EPCAM as Green List (high evidence)
GI tract tumours v1.14 EPCAM Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
GI tract tumours v1.14 EPCAM Ivone Leong Gene: epcam has been classified as Green List (High Evidence).
Mitochondrial disorders v1.420 TANGO2 Sarah Leigh Classified gene: TANGO2 as Red List (low evidence)
Mitochondrial disorders v1.420 TANGO2 Sarah Leigh Added comment: Comment on list classification: TANGO2 is rated as Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878, which is not considered a primary mitochondrial disorder.
Mitochondrial disorders v1.420 TANGO2 Sarah Leigh Gene: tango2 has been classified as Red List (Low Evidence).
Fetal anomalies v0.323 COQ4 Anna de Burca Classified gene: COQ4 as Green List (high evidence)
Fetal anomalies v0.323 COQ4 Anna de Burca Gene: coq4 has been classified as Green List (High Evidence).
Fetal anomalies v0.322 COQ4 Anna de Burca Classified gene: COQ4 as Green List (high evidence)
Fetal anomalies v0.322 COQ4 Anna de Burca Gene: coq4 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.419 STAT2 Sarah Leigh Classified gene: STAT2 as Red List (low evidence)
Mitochondrial disorders v1.419 STAT2 Sarah Leigh Added comment: Comment on list classification: STAT2 is rated as Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). Although it is associated with elongated mitochondria, the Immunodeficiency 44 616636 phenotype is not appropriate for this panel.
Mitochondrial disorders v1.419 STAT2 Sarah Leigh Gene: stat2 has been classified as Red List (Low Evidence).
Likely inborn error of metabolism v1.75 STAT2 Sarah Leigh Classified gene: STAT2 as Red List (low evidence)
Likely inborn error of metabolism v1.75 STAT2 Sarah Leigh Added comment: Comment on list classification: STAT2 is rated as Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). Although it is associated with elongated mitochondria, the Immunodeficiency 44 616636 phenotype is not appropriate for this panel.
Likely inborn error of metabolism v1.75 STAT2 Sarah Leigh Gene: stat2 has been classified as Red List (Low Evidence).
Limb disorders v1.14 FZD2 Eleanor Williams gene: FZD2 was added
gene: FZD2 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: FZD2 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Likely inborn error of metabolism v1.74 STAT2 Sarah Leigh Phenotypes for gene: STAT2 were changed from elongated mitochondria; severe neurological deterioration following viral infection to Immunodeficiency 44 616636; elongated mitochondria; severe neurological deterioration following viral infection
Limb disorders v1.13 ASXL1 Eleanor Williams gene: ASXL1 was added
gene: ASXL1 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: ASXL1 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Limb disorders v1.12 PAX3 Eleanor Williams gene: PAX3 was added
gene: PAX3 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Review for gene: PAX3 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Likely inborn error of metabolism v1.73 ROBO3 Sarah Leigh Classified gene: ROBO3 as Red List (low evidence)
Likely inborn error of metabolism v1.73 ROBO3 Sarah Leigh Added comment: Comment on list classification: ROBO3 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313, which is not appropriate for this panel.
Likely inborn error of metabolism v1.73 ROBO3 Sarah Leigh Gene: robo3 has been classified as Red List (Low Evidence).
Mitochondrial disorders v1.418 ROBO3 Sarah Leigh Classified gene: ROBO3 as Red List (low evidence)
Mitochondrial disorders v1.418 ROBO3 Sarah Leigh Added comment: Comment on list classification: ROBO3 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Gaze palsy, familial horizontal, with progressive scoliosis, 1 607313, which is not appropriate for this panel.
Mitochondrial disorders v1.418 ROBO3 Sarah Leigh Gene: robo3 has been classified as Red List (Low Evidence).
Hereditary ataxia with onset in adulthood v1.186 CACNA1A_CAG Louise Daugherty commented on STR: CACNA1A_CAG: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.186 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.186 CSTB_CCCCGCCCCGCG Louise Daugherty Added comment: Comment on list classification: STR missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this STR Green
Hereditary ataxia with onset in adulthood v1.186 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Hereditary ataxia with onset in adulthood v1.185 CSTB_CCCCGCCCCGCG Louise Daugherty Source NHS GMS was added to STR: CSTB_CCCCGCCCCGCG.
Hereditary ataxia with onset in adulthood v1.184 ISCA-37478-Loss Louise Daugherty Triplosensitivity Score for ISCA-37478-Loss was changed from to None.
Source Hereditary ataxia v1.148 was removed from Region: ISCA-37478-Loss.
Source NHS GMS was added to Region: ISCA-37478-Loss.
Hereditary ataxia with onset in adulthood v1.183 ISCA-37478-Loss Louise Daugherty commented on Region: ISCA-37478-Loss: CNV missing from original lists submitted by the GLHs from GMS Neurology Specialist Test Group. Discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this CNV Green
Mitochondrial disorders v1.417 IER3IP1 Sarah Leigh Classified gene: IER3IP1 as Red List (low evidence)
Mitochondrial disorders v1.417 IER3IP1 Sarah Leigh Added comment: Comment on list classification: IER3IP1 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions.
Mitochondrial disorders v1.417 IER3IP1 Sarah Leigh Gene: ier3ip1 has been classified as Red List (Low Evidence).
Hereditary ataxia with onset in adulthood v1.183 ISCA-37468-Loss Louise Daugherty Classified Region: ISCA-37468-Loss as Red List (low evidence)
Hereditary ataxia with onset in adulthood v1.183 ISCA-37468-Loss Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this CNV Red
Hereditary ataxia with onset in adulthood v1.183 ISCA-37468-Loss Louise Daugherty Region: isca-37468-loss has been classified as Red List (Low Evidence).
Limb disorders v1.11 EIF4A3 Eleanor Williams gene: EIF4A3 was added
gene: EIF4A3 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: EIF4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF4A3 were set to 9284755; 9449664
Phenotypes for gene: EIF4A3 were set to Robin sequence with cleft mandible and limb anomalies, 268305
Review for gene: EIF4A3 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Hereditary ataxia with onset in adulthood v1.182 TUBB2A Louise Daugherty commented on gene: TUBB2A: No discrepancy - this gene should remain Red even though Amber review - see comment from Wessex and West Midlands GLH
Hereditary ataxia with onset in adulthood v1.182 TUBB Louise Daugherty commented on gene: TUBB: No discrepancy - this gene should remain Red even though Amber review - see comment from Wessex and West Midlands GLH
Mitochondrial disorders v1.416 HMGCL Sarah Leigh Classified gene: HMGCL as Red List (low evidence)
Mitochondrial disorders v1.416 HMGCL Sarah Leigh Added comment: Comment on list classification: HMGCL is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with HMG-CoA lyase deficiency 246450, with microcephaly, seizures & metabolic disturbance. Although this is technically a mitochondrial disorder, the phenotype is quite different to other mitochondrial conditions.
Mitochondrial disorders v1.416 HMGCL Sarah Leigh Gene: hmgcl has been classified as Red List (Low Evidence).
Limb disorders v1.10 CYP26B1 Eleanor Williams commented on gene: CYP26B1: Associated with Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies (614416) in OMIM.

PMID: 22019272 - Laue et al 2011 - 2 cases, 1 with a relevant limb phenotype. Family 1 - three siblings born to first-cousin parents who exhibited combinations of severe craniofacial malformations, occipital encephalocele, radiohumeral fusions, oligodactyly, advanced osseous maturation, and calvarial mineralization defects. First proband presented as a fetal death, and subsequent second and third sibs were identified as affected by ultrasonography in two separate pregnancies. Homozygosity for p.Arg363Leu in CYP26B1 was found in all 3 sibs. The parents were heterozygous. Family 2 - individual with a likely diagnosis of Antley-Bixler syndrome born to consanguineous parents. Homozygosity for p.Ser146Pro was found. The phenotype of this female included coronal and lambdoid craniosynostosis, a large sagittal skull defect, limited elbow extension, and arachnodactyly.

PMID: 27410456 - Morton et al 2016 - 1 case. A woman homozygous for c.1303G>A; p.(Gly435Ser) in CYP26B1, which was associated with multisutural synostosis, radiohumeral synostosis, normal bone mineral density, and apparent intellectual disability. Reported limb phenotypes are camptodactyly of the fingers, long and narrow feet, short third and fourth metatarsals, and small third to fifth toenails.
Mitochondrial disorders v1.415 HMGCL Sarah Leigh Classified gene: HMGCL as Red List (low evidence)
Mitochondrial disorders v1.415 HMGCL Sarah Leigh Added comment: Comment on list classification: HMGCL is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). It is associated with HMG-CoA lyase deficiency 246450, with microcephaly, seizures & metabolic disturbance. Although this is technically a mitochondrial disorder, the phenotype is quite different to other mitochondrial conditions.
Mitochondrial disorders v1.415 HMGCL Sarah Leigh Gene: hmgcl has been classified as Red List (Low Evidence).
Hereditary ataxia with onset in adulthood v1.182 GALC Louise Daugherty Phenotypes for gene: GALC were changed from KRABBE DISEASE, 245200 to Krabbe disease, 245200
Hereditary ataxia with onset in adulthood v1.181 GALC Louise Daugherty Classified gene: GALC as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.181 GALC Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: New gene and Green rating added to panel by Nick Beauchamp (Sheffield Diagnostic Genetics Service) on behalf of YNEGLH. The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.181 GALC Louise Daugherty Gene: galc has been classified as Amber List (Moderate Evidence).
Hereditary ataxia with onset in adulthood v1.180 PEX2 Louise Daugherty Phenotypes for gene: PEX2 were changed from PEROXISOME BIOGENESIS DISORDER 5B,614867 to Peroxisome biogenesis disorder 5B, 614867
Hereditary ataxia with onset in adulthood v1.179 PEX2 Louise Daugherty Classified gene: PEX2 as Amber List (moderate evidence)
Hereditary ataxia with onset in adulthood v1.179 PEX2 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 26th July 2019: New gene and Green rating added to panel by Nick Beauchamp (Sheffield Diagnostic Genetics Service) on behalf of YNEGLH. The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Hereditary ataxia with onset in adulthood v1.179 PEX2 Louise Daugherty Gene: pex2 has been classified as Amber List (Moderate Evidence).
Paediatric disorders v3.607 Rebecca Foulger Changed child panels to: Intellectual disability; Skeletal dysplasia; DDG2P; Inborn errors of metabolism; Familial non syndromic congenital heart disease; Limb disorders; Paediatric disorders - additional genes; Skeletal ciliopathies; Ophthalmological ciliopathies; Neurological ciliopathies; Renal ciliopathies
Sarcoma susceptibility v0.8 EXT1 Rebecca Foulger Classified gene: EXT1 as Green List (high evidence)
Sarcoma susceptibility v0.8 EXT1 Rebecca Foulger Gene: ext1 has been classified as Green List (High Evidence).
Sarcoma susceptibility v0.7 EXT1 Rebecca Foulger Source NHS GMS was added to EXT1.
Rating Changed from No List (delete) to Red List (low evidence)
Sarcoma susceptibility v0.6 EXT1 Rebecca Foulger All sources for gene: EXT1 were removed
Mitochondrial disorders v1.414 FXN_GAA Sarah Leigh Classified STR: FXN_GAA as Red List (low evidence)
Mitochondrial disorders v1.414 FXN_GAA Sarah Leigh Added comment: Comment on list classification: FXN_GAA is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is quite different to other mitochondrial conditions.
Mitochondrial disorders v1.414 FXN_GAA Sarah Leigh Str: fxn_gaa has been classified as Red List (Low Evidence).
Undiagnosed metabolic disorders v1.123 FXN Sarah Leigh Phenotypes for gene: FXN were changed from Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Hereditary ataxia to Friedreich ataxia, 229300; Friedreich ataxia with retained reflexes, 229300; Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Undiagnosed metabolic disorders v1.122 FXN Sarah Leigh Classified gene: FXN as Green List (high evidence)
Undiagnosed metabolic disorders v1.122 FXN Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in unrelated cases.
FXN is rated Red on the mitochondrial panels on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is different to other mitochondrial conditions.
Undiagnosed metabolic disorders v1.122 FXN Sarah Leigh Gene: fxn has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.121 FXN Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.72 FXN Sarah Leigh Classified gene: FXN as Green List (high evidence)
Likely inborn error of metabolism v1.72 FXN Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in unrelated cases.
FXN is rated Red on the mitochondrial panels on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is different to other mitochondrial conditions.
Likely inborn error of metabolism v1.72 FXN Sarah Leigh Gene: fxn has been classified as Green List (High Evidence).
Mitochondrial disorders v1.413 FXN Sarah Leigh Classified gene: FXN as Red List (low evidence)
Mitochondrial disorders v1.413 FXN Sarah Leigh Added comment: Comment on list classification: FXN is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Friedreich’s ataxia, which is technically a mitochondrial disorder, but the phenotype is quite different to other mitochondrial conditions.
Mitochondrial disorders v1.413 FXN Sarah Leigh Gene: fxn has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.185 CUL4B Rebecca Foulger changed review comment from: PMID:22182342: Ravn et al., 2012 report a monozygotic Danish twin pair with a CUL4B deletion. Seizures are reported in both patients but no further details on the seizures are given. Ravn et al also summarise previous studies and note seizues in 14/22 patients. However this includes the febrile seizures noted in PMID:17236139 (Tarpet et al 2007).; to: PMID:22182342: Ravn et al., 2012 report a monozygotic Danish twin pair with a CUL4B deletion. Seizures are reported in both patients but no further details on the seizures are given. Ravn et al also summarise previous studies and note seizures in 14/22 patients. However this includes the febrile seizures noted in PMID:17236139 (Tarpet et al 2007).
Early onset or syndromic epilepsy v1.185 CUL4B Rebecca Foulger changed review comment from: PMID:22182342: Ravn et al., 2012 report a monozygotic Danish twin pair with a CUL4B deletion. Seizures is reported in both patients but no further details on the seizures are given. Ravn et al also summarise previous studies and note seizues in 14/22 patients. However this includes the febrile seizures noted in PMID:17236139 (Tarpet et al 2007).; to: PMID:22182342: Ravn et al., 2012 report a monozygotic Danish twin pair with a CUL4B deletion. Seizures are reported in both patients but no further details on the seizures are given. Ravn et al also summarise previous studies and note seizues in 14/22 patients. However this includes the febrile seizures noted in PMID:17236139 (Tarpet et al 2007).
Intellectual disability v2.992 DLG4 Catherine Snow Classified gene: DLG4 as Green List (high evidence)
Intellectual disability v2.992 DLG4 Catherine Snow Gene: dlg4 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.185 HEXB Rebecca Foulger Classified gene: HEXB as Green List (high evidence)
Early onset or syndromic epilepsy v1.185 HEXB Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green. Sufficient cases of Sandhoff disease with seizures (PMID:28553389, PMID:7626071, PMID: 30075786) for inclusion on panel.
Early onset or syndromic epilepsy v1.185 HEXB Rebecca Foulger Gene: hexb has been classified as Green List (High Evidence).
Sarcoma susceptibility v0.5 SMARCB1 Rebecca Foulger Source NHS GMS was added to SMARCB1.
Sarcoma susceptibility v0.5 SMARCA4 Rebecca Foulger Source NHS GMS was added to SMARCA4.
Sarcoma susceptibility v0.5 PTEN Rebecca Foulger Source NHS GMS was added to PTEN.
Sarcoma susceptibility v0.5 ERCC2 Rebecca Foulger Source NHS GMS was added to ERCC2.
Sarcoma susceptibility v0.5 BRCA2 Rebecca Foulger Source NHS GMS was added to BRCA2.
Sarcoma susceptibility v0.5 BLM Rebecca Foulger Source NHS GMS was added to BLM.
Sarcoma susceptibility v0.5 ATR Rebecca Foulger Source NHS GMS was added to ATR.
Sarcoma susceptibility v0.5 ATM Rebecca Foulger Source NHS GMS was added to ATM.
Sarcoma susceptibility v0.5 APC Rebecca Foulger Source NHS GMS was added to APC.
Sarcoma susceptibility v0.5 WT1 Rebecca Foulger Source NHS GMS was added to WT1.
Sarcoma susceptibility v0.5 TNFRSF11A Rebecca Foulger Source NHS GMS was added to TNFRSF11A.
Sarcoma susceptibility v0.5 PAX7 Rebecca Foulger Source NHS GMS was added to PAX7.
Sarcoma susceptibility v0.5 PAX3 Rebecca Foulger Source NHS GMS was added to PAX3.
Sarcoma susceptibility v0.5 KRAS Rebecca Foulger Source NHS GMS was added to KRAS.
Sarcoma susceptibility v0.5 FOXO1 Rebecca Foulger Source NHS GMS was added to FOXO1.
Sarcoma susceptibility v0.5 DICER1 Rebecca Foulger Source NHS GMS was added to DICER1.
Sarcoma susceptibility v0.5 CREBBP Rebecca Foulger Source NHS GMS was added to CREBBP.
Sarcoma susceptibility v0.5 WRN Rebecca Foulger Source NHS GMS was added to WRN.
Sarcoma susceptibility v0.5 SDHD Rebecca Foulger Source NHS GMS was added to SDHD.
Sarcoma susceptibility v0.5 SDHC Rebecca Foulger Source NHS GMS was added to SDHC.
Sarcoma susceptibility v0.5 SDHB Rebecca Foulger Source NHS GMS was added to SDHB.
Sarcoma susceptibility v0.5 SDHA Rebecca Foulger Source NHS GMS was added to SDHA.
Sarcoma susceptibility v0.5 RB1 Rebecca Foulger Source NHS GMS was added to RB1.
Sarcoma susceptibility v0.5 PMS2 Rebecca Foulger Source NHS GMS was added to PMS2.
Sarcoma susceptibility v0.5 NBN Rebecca Foulger Source NHS GMS was added to NBN.
Sarcoma susceptibility v0.5 MSH6 Rebecca Foulger Source NHS GMS was added to MSH6.
Sarcoma susceptibility v0.5 MSH2 Rebecca Foulger Source NHS GMS was added to MSH2.
Sarcoma susceptibility v0.5 MLH1 Rebecca Foulger Source NHS GMS was added to MLH1.
Sarcoma susceptibility v0.5 KIT Rebecca Foulger Source NHS GMS was added to KIT.
Sarcoma susceptibility v0.5 HRAS Rebecca Foulger Source NHS GMS was added to HRAS.
Sarcoma susceptibility v0.5 FH Rebecca Foulger Source NHS GMS was added to FH.
Sarcoma susceptibility v0.5 CDKN1C Rebecca Foulger Source NHS GMS was added to CDKN1C.
Sarcoma susceptibility v0.5 BUB1B Rebecca Foulger Source NHS GMS was added to BUB1B.
Intellectual disability v2.991 CTBP1 Rebecca Foulger Tag missense tag was added to gene: CTBP1.
Likely inborn error of metabolism v1.71 RANBP2 Sarah Leigh Classified gene: RANBP2 as Amber List (moderate evidence)
Likely inborn error of metabolism v1.71 RANBP2 Sarah Leigh Added comment: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information (e.g. on penetrance) is required for a clear gene:disease association.
Likely inborn error of metabolism v1.71 RANBP2 Sarah Leigh Gene: ranbp2 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.121 RANBP2 Sarah Leigh Classified gene: RANBP2 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.121 RANBP2 Sarah Leigh Added comment: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information (e.g. on penetrance) is required for a clear gene:disease association.
Undiagnosed metabolic disorders v1.121 RANBP2 Sarah Leigh Gene: ranbp2 has been classified as Amber List (Moderate Evidence).
Congenital fibrosis of the extraocular muscles v1.0 Ivone Leong promoted panel to version 1.0
Stickler syndrome v2.0 Ivone Leong promoted panel to version 2.0
Sporadic aniridia v2.0 Ivone Leong promoted panel to version 2.0
DDG2P v1.80 SETD1B Rebecca Foulger reviewed gene: SETD1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v1.79 SETD1B Rebecca Foulger gene: SETD1B was added
gene: SETD1B was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: SETD1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SETD1B were set to 29322246
Phenotypes for gene: SETD1B were set to SETD1B associated intellectual disability, epilepsy and autism
Possible mitochondrial disorder - nuclear genes v1.0 Ellen McDonagh promoted panel to version 1.0
Possible mitochondrial disorder - nuclear genes v0.207 Ellen McDonagh List of related panels changed from to R63
Panel types changed to GMS Rare Disease; GMS signed-off
Mitochondrial disorder with complex V deficiency v1.0 Ellen McDonagh promoted panel to version 1.0
Mitochondrial disorder with complex V deficiency v0.27 Ellen McDonagh List of related panels changed from to R357
Panel types changed to GMS Rare Disease; GMS signed-off
Possible mitochondrial disorder - nuclear genes v0.206 ATP5A1 Ellen McDonagh Deleted their comment
Possible mitochondrial disorder - nuclear genes v0.206 ATP5A1 Ellen McDonagh Deleted their comment
Possible mitochondrial disorder - nuclear genes v0.206 ATP5A1 Ellen McDonagh commented on gene: ATP5A1: Due to unknown mechanism of inheritance from the mother in two of the reported cases in PMID: 23599390, it was confirmed with the Mitochondrial disease specialist group to keep this gene as Amber for now until more evidence arises.
Possible mitochondrial disorder - nuclear genes v0.206 ATP5A1 Ellen McDonagh commented on gene: ATP5A1: Due to unknown mechanism of inheritance from the mother in two of the reported cases in PMID: 23599390, it was confirmed with the Mitochondrial disease specialist group to keep this gene as Amber for now until more evidence arises.
Mitochondrial disorder with complex V deficiency v0.26 ATP5A1 Ellen McDonagh commented on gene: ATP5A1: PMID: 23599390 - the boys were reported to have inherited a heterozygous variant from their father and don’t seem to express the maternal allele, which they conclude must be due to an unknown variant affecting expression.
Mitochondrial disorder with complex IV deficiency v1.0 Ellen McDonagh promoted panel to version 1.0
Mitochondrial disorder with complex IV deficiency v0.43 Ellen McDonagh List of related panels changed from to R356
Panel types changed to GMS Rare Disease; GMS signed-off
Limb disorders v1.10 CYP26B1 Eleanor Williams gene: CYP26B1 was added
gene: CYP26B1 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP26B1 were set to 22019272; 27410456
Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416
Review for gene: CYP26B1 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Mitochondrial disorder with complex III deficiency v1.0 Ellen McDonagh promoted panel to version 1.0
Mitochondrial disorder with complex III deficiency v0.27 Ellen McDonagh List of related panels changed from to R355
Panel types changed to GMS Rare Disease; GMS signed-off
Mitochondrial disorder with complex II deficiency v1.0 Ellen McDonagh promoted panel to version 1.0
Mitochondrial disorder with complex II deficiency v0.18 Ellen McDonagh List of related panels changed from to R354
Panel types changed to GMS Rare Disease; GMS signed-off
Mitochondrial disorder with complex I deficiency v1.0 Ellen McDonagh promoted panel to version 1.0
Mitochondrial disorder with complex I deficiency v0.68 Ellen McDonagh List of related panels changed from to R353
Panel types changed to GMS Rare Disease; GMS signed-off
Congenital fibrosis of the extraocular muscles v0.10 Ivone Leong List of related panels changed from to R46
Panel types changed to GMS Rare Disease; GMS signed-off
Stickler syndrome v1.33 Ivone Leong List of related panels changed from to R45
Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Optic neuropathy v1.117 Ivone Leong List of related panels changed from Inherited optic neuropathies to Inherited optic neuropathies; R41
Limb disorders v1.9 EFNB1 Eleanor Williams commented on gene: EFNB1: Associated with Craniofrontonasal dysplasia (304110) in OMIM and CRANIOFRONTONASAL SYNDROME in Gene2Phenotype (confirmed). In OMIM Asymmetric lower limb shortness, Joint laxity, Syndactyly, Brachydactyly, Fifth finger clinodactyly and Broad halluces are listed as limb features of the condition and a similar list is given in Gene2Phenotype.

CFNS shows a very unusual pattern of X-linked inheritance, in which most affected patients are females and obligate male carriers show no or only mild manifestation, such as hypertelorism .

PMID: 15166289 - Twigg et al 2014 - identified significant mutations in EFNB1 in all 20 unrelated Craniofrontonasal syndrome females studied, including nine different de novo mutations. Of the 20, 2 had duplex thumb/hallux and 1 showed lower-limb asymmetry in addition to other features such as coronal craniosynostosis and cleft lip and/or palate.

PMID: 23335590 - Twigg et al 2013 - Six severely affected sporadic males with a diagnosis of CFNS. They identified mosaic mutations of EFNB1 in all cases, comprising three missense changes, two gene deletions and a novel point mutation within the 5′ untranslated region (UTR). 4/6 patients had brachydactyly and/or syndactyly. Clinodactyly was also seen in 3 patients.

PMID: 15124102 - Weiland et al 2004 - 3 families with variants (deletion of exons 2–5 and two missense variants) in EFNB1 and CFNS. In Family 2 brachydactyly was an observed phenotype. In Family 3 one female showed complete syndactyly of the third and fourth finger on the left side.
Albinism or congenital nystagmus v0.20 Ivone Leong List of related panels changed from to R39
Mitochondrial DNA maintenance disorder v1.0 Ellen McDonagh promoted panel to version 1.0
Sporadic aniridia v1.10 Ivone Leong List of related panels changed from to R38
Panel types changed to GMS Rare Disease; GMS signed-off
Mitochondrial DNA maintenance disorder v0.12 Ellen McDonagh List of related panels changed from to R352
Panel types changed to GMS Rare Disease; GMS signed-off
Structural eye disease v0.84 Ivone Leong List of related panels changed from to R36
Retinal disorders v1.146 Ivone Leong List of related panels changed from Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy to Posterior segment abnormalities; Cone Dysfunction Syndrome; Developmental macular and foveal dystrophy; Inherited macular dystrophy; Leber Congenital Amaurosis Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy; Leber Congenital Amaurosis or Early-Onset Severe Retinal Dystrophy; Rod Dysfunction Syndrome; Rod-cone dystrophy; Familial exudative vitreoretinopathy; Familial exudative retinopathy; R32; R33; R34; R35
Bilateral congenital or childhood onset cataracts v1.28 Ivone Leong List of related panels changed from to R31
Corneal dystrophy v0.7 Ivone Leong List of related panels changed from to R262
Mitochondrial liver disease, including transient infantile liver failure v1.0 Ellen McDonagh promoted panel to version 1.0
Mitochondrial liver disease, including transient infantile liver failure v0.7 Ellen McDonagh List of related panels changed from to R317
Panel types changed to GMS Rare Disease; GMS signed-off
Bardet Biedl syndrome v0.23 Ivone Leong List of related panels changed from to R107
Pyruvate dehydrogenase (PDH) deficiency v1.0 Ellen McDonagh promoted panel to version 1.0
Pyruvate dehydrogenase (PDH) deficiency v0.8 Ellen McDonagh List of related panels changed from to R316
Pyruvate dehydrogenase (PDH) deficiency v0.7 Ellen McDonagh Panel types changed to GMS Rare Disease; GMS signed-off
Limb disorders v1.9 EFNB1 Eleanor Williams gene: EFNB1 was added
gene: EFNB1 was added to Limb disorders. Sources: Expert list
Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: EFNB1 were set to 15166289; 23335590; 15124102
Phenotypes for gene: EFNB1 were set to Craniofrontonasal syndrome, 304110
Mode of pathogenicity for gene: EFNB1 was set to Other
Review for gene: EFNB1 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Hyperthyroidism v2.0 Ivone Leong promoted panel to version 2.0
Hyperthyroidism v1.9 Ivone Leong List of related panels changed from Resistance to thyroid hormone to Resistance to thyroid hormone; R182
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Differences in sex development v2.0 Ivone Leong promoted panel to version 2.0
Differences in sex development v1.37 Ivone Leong List of related panels changed from to R146
Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Lipodystrophy - childhood onset v2.0 Ivone Leong promoted panel to version 2.0
Lipodystrophy - childhood onset v1.10 Ivone Leong Panel types changed to GMS Rare Disease Virtual; GMS signed-off
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.0 RET Ivone Leong changed review comment from: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.; to: Submitted on behalf of Treena Cranston (Oxford): minimally cover exons 5,8,10,11,13,14,15 &16.
Endocrine neoplasia v1.0 RET Ivone Leong changed review comment from: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.; to: Submitted on behalf of Treena Cranston (Oxford): minimally cover exons 5,8,10,11,13,14,15 &16.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.0 RET Ivone Leong changed review comment from: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.; to: Submitted on behalf of Treena Cranston (Oxford): minimally cover exons 5,8,10,11,13,14,15 &16.
Inherited phaeochromocytoma and paraganglioma excluding NF1 v1.0 Ivone Leong promoted panel to version 1.0
Inherited phaeochromocytoma and paraganglioma excluding NF1 v0.7 RET Ivone Leong commented on gene: RET: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.
Endocrine neoplasia v1.0 Ivone Leong promoted panel to version 1.0
Endocrine neoplasia v0.6 RET Ivone Leong commented on gene: RET: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.
Familial tumoral calcinosis v1.0 Ivone Leong promoted panel to version 1.0
Primary pigmented nodular adrenocortical disease v1.0 Ivone Leong promoted panel to version 1.0
Pituitary hormone deficiency v2.0 Ivone Leong promoted panel to version 2.0
Skeletal ciliopathies v0.12 IFT81 Eleanor Williams Classified gene: IFT81 as Green List (high evidence)
Skeletal ciliopathies v0.12 IFT81 Eleanor Williams Added comment: Comment on list classification: Upgrading from Amber to Green as there is now an additional case in which the tandem duplication of 2 exons is predicted to result in a truncated protein (PMID: 30080953 - Pettersson et al 2018) in a patient with short-rib thoracic dysplasia.
Skeletal ciliopathies v0.12 IFT81 Eleanor Williams Gene: ift81 has been classified as Green List (High Evidence).
Skeletal dysplasia v1.192 IFT81 Eleanor Williams changed review comment from: Associated with Short-rib thoracic dysplasia 19 with or without polydactyly (#617895) in OMIM

PMID: 27666822 - Duran et al 2016 - 2 cases. Family 1 - male infant (R98-443) with features consistent with Asphyxiating thoracic dystrophy (ATD). The radiographic abnormalities included midface hypoplasia, dolichocephaly, a prominent occiput , short ribs, handlebar clavicles and short, curved appendicular bones, with the upper limbs particularly abnormally shaped. There was no polydactyly on either the hands or feet. They identified compound heterozygosity for two variants: p.Leu29Phe and p.Arg512*. Family 2 - fetus (R13-147A) suspected to have SRPS by prenatal ultrasonography. Postnatal radiographs showed dolichocephaly, a prominent occiput, midface hypoplasia, a very small thorax with shortened horizontal ribs, markedly short long bones with rounded metaphyses and marked hypoplasia of the radii, ulnae, tibiae and fibulae. Other radiographic features included small iliac bones and postaxial polydactyly of all extremities. They identified compound heterozygosity for variants in IFT81: p.Leu262 and p.Leu435del). Cultured chondrocytes from one patient showed decreased levels of transcript. Mutant cells produced elongated cilia, had altered hedgehog signaling, had increased post-translation modification of tubulin, and showed evidence of destabilization of additional anterograde transport complex components

PMID: 26275418 - Perrault et al 2015 - identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly (c.1188+1G-A). The variant has been classified as a VUS in OMIM as its contribution to nephronophthisis-related ciliopathy has not be confirmed. Only candidate gene sequencing of IFT-B complex proteins was found. A variant in IFT81 (c.2015_2019delACCGG) was also found in a second unrelated child with retinal dystrophy and intellectual disability (no skeletal phenotype) suggestive of a ciliopathy however 9 additional rare homozygous variants were found and so this variant has also been classified as a VUS in OMIM.

PMID: 28460050 - Dharmat et al 2017 - Compound heterozygous mutations in IFT81 were identified in a nonsyndromic Cone rod dystrophy proband.

PMID: 30080953 - Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. He had narrow thorax, short arms, brachydactyly and short stature. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.

Summary - 2 cases with SNVs and strong skeletal phenotype, one with some functional data. 3rd case with polydactyly the only skeletal component of the phenotype. 4th case with tandem duplication of 2 exons. ; to: Associated with Short-rib thoracic dysplasia 19 with or without polydactyly (#617895) in OMIM

PMID: 27666822 - Duran et al 2016 - 2 cases. Family 1 - male infant (R98-443) with features consistent with Asphyxiating thoracic dystrophy (ATD). The radiographic abnormalities included midface hypoplasia, dolichocephaly, a prominent occiput , short ribs, handlebar clavicles and short, curved appendicular bones, with the upper limbs particularly abnormally shaped. There was no polydactyly on either the hands or feet. They identified compound heterozygosity for two variants: p.Leu29Phe and p.Arg512*. Family 2 - fetus (R13-147A) suspected to have SRPS by prenatal ultrasonography. Postnatal radiographs showed dolichocephaly, a prominent occiput, midface hypoplasia, a very small thorax with shortened horizontal ribs, markedly short long bones with rounded metaphyses and marked hypoplasia of the radii, ulnae, tibiae and fibulae. Other radiographic features included small iliac bones and postaxial polydactyly of all extremities. They identified compound heterozygosity for variants in IFT81: p.Leu262 and p.Leu435del). Cultured chondrocytes from one patient showed decreased levels of transcript. Mutant cells produced elongated cilia, had altered hedgehog signaling, had increased post-translation modification of tubulin, and showed evidence of destabilization of additional anterograde transport complex components

PMID: 26275418 - Perrault et al 2015 - identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly (c.1188+1G-A). The variant has been classified as a VUS in OMIM as its contribution to nephronophthisis-related ciliopathy has not be confirmed. Only candidate gene sequencing of IFT-B complex proteins was found. A variant in IFT81 (c.2015_2019delACCGG) was also found in a second unrelated child with retinal dystrophy and intellectual disability (no skeletal phenotype) suggestive of a ciliopathy however 9 additional rare homozygous variants were found and so this variant has also been classified as a VUS in OMIM.

PMID: 28460050 - Dharmat et al 2017 - Compound heterozygous mutations in IFT81 were identified in a nonsyndromic Cone rod dystrophy proband.

PMID: 30080953 - Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. He had narrow thorax, short arms, brachydactyly and short stature. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.

Summary - 2 cases with SNVs and strong skeletal phenotype, one with some functional data. 3rd case with polydactyly the only skeletal component of the phenotype and the variant classified as a VUS. 4th case with tandem duplication of 2 exons which is predicted to result in a truncated protein.
Skeletal dysplasia v1.192 IFT81 Eleanor Williams changed review comment from: Associated with Short-rib thoracic dysplasia 19 with or without polydactyly (#617895) in OMIM

PMID: 27666822 - Duran et al 2016 - 2 cases. Family 1 - male infant (R98-443) with features consistent with Asphyxiating thoracic dystrophy (ATD). The radiographic abnormalities included midface hypoplasia, dolichocephaly, a prominent occiput , short ribs, handlebar clavicles and short, curved appendicular bones, with the upper limbs particularly abnormally shaped. There was no polydactyly on either the hands or feet. They identified compound heterozygosity for two variants: p.Leu29Phe and p.Arg512*. Family 2 - fetus (R13-147A) suspected to have SRPS by prenatal ultrasonography. Postnatal radiographs showed dolichocephaly, a prominent occiput, midface hypoplasia, a very small thorax with shortened horizontal ribs, markedly short long bones with rounded metaphyses and marked hypoplasia of the radii, ulnae, tibiae and fibulae. Other radiographic features included small iliac bones and postaxial polydactyly of all extremities. They identified compound heterozygosity for variants in IFT81: p.Leu262 and p.Leu435del). Cultured chondrocytes from one patient showed decreased levels of transcript. Mutant cells produced elongated cilia, had altered hedgehog signaling, had increased post-translation modification of tubulin, and showed evidence of destabilization of additional anterograde transport complex components

PMID: 26275418 - Perrault et al 2015 - identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly. The variant has been classified as a VUS in OMIM as its contribution to nephronophthisis-related ciliopathy has not be confirmed.

PMID: 28460050 - Dharmat et al 2017 - Compound heterozygous mutations in IFT81 were identified in a nonsyndromic Cone rod dystrophy proband.

PMID: 30080953 - Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. He had narrow thorax, short arms, brachydactyly and short stature. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.

Summary - 2 cases with SNVs and strong skeletal phenotype, one with some functional data. 3rd case with polydactyly the only skeletal component of the phenotype. 4th case with tandem duplication of 2 exons. ; to: Associated with Short-rib thoracic dysplasia 19 with or without polydactyly (#617895) in OMIM

PMID: 27666822 - Duran et al 2016 - 2 cases. Family 1 - male infant (R98-443) with features consistent with Asphyxiating thoracic dystrophy (ATD). The radiographic abnormalities included midface hypoplasia, dolichocephaly, a prominent occiput , short ribs, handlebar clavicles and short, curved appendicular bones, with the upper limbs particularly abnormally shaped. There was no polydactyly on either the hands or feet. They identified compound heterozygosity for two variants: p.Leu29Phe and p.Arg512*. Family 2 - fetus (R13-147A) suspected to have SRPS by prenatal ultrasonography. Postnatal radiographs showed dolichocephaly, a prominent occiput, midface hypoplasia, a very small thorax with shortened horizontal ribs, markedly short long bones with rounded metaphyses and marked hypoplasia of the radii, ulnae, tibiae and fibulae. Other radiographic features included small iliac bones and postaxial polydactyly of all extremities. They identified compound heterozygosity for variants in IFT81: p.Leu262 and p.Leu435del). Cultured chondrocytes from one patient showed decreased levels of transcript. Mutant cells produced elongated cilia, had altered hedgehog signaling, had increased post-translation modification of tubulin, and showed evidence of destabilization of additional anterograde transport complex components

PMID: 26275418 - Perrault et al 2015 - identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly (c.1188+1G-A). The variant has been classified as a VUS in OMIM as its contribution to nephronophthisis-related ciliopathy has not be confirmed. Only candidate gene sequencing of IFT-B complex proteins was found. A variant in IFT81 (c.2015_2019delACCGG) was also found in a second unrelated child with retinal dystrophy and intellectual disability (no skeletal phenotype) suggestive of a ciliopathy however 9 additional rare homozygous variants were found and so this variant has also been classified as a VUS in OMIM.

PMID: 28460050 - Dharmat et al 2017 - Compound heterozygous mutations in IFT81 were identified in a nonsyndromic Cone rod dystrophy proband.

PMID: 30080953 - Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. He had narrow thorax, short arms, brachydactyly and short stature. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.

Summary - 2 cases with SNVs and strong skeletal phenotype, one with some functional data. 3rd case with polydactyly the only skeletal component of the phenotype. 4th case with tandem duplication of 2 exons.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.0 Ivone Leong promoted panel to version 2.0
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v1.3 AP2S1 Ivone Leong commented on gene: AP2S1: Submitted on behalf of Treen Cranston (Oxford): codon 15 should be covered.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v1.3 RET Ivone Leong changed review comment from: Submitted on behalf of Treena Cranston: exons 5,8,10,11,13,14,15 &16 should be covered.; to: Submitted on behalf of Treena Cranston (Oxford): exons 5,8,10,11,13,14,15 &16 should be covered.
Familial hyperparathyroidism or hypocalciuric hypercalcaemia v1.3 RET Ivone Leong commented on gene: RET: Submitted on behalf of Treena Cranston: exons 5,8,10,11,13,14,15 &16 should be covered.
Congenital adrenal hypoplasia v2.0 Ivone Leong promoted panel to version 2.0
Skeletal ciliopathies v0.11 IFT81 Eleanor Williams changed review comment from: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.; to: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.
Skeletal dysplasia v1.192 IFT81 Eleanor Williams changed review comment from: Associated with Short-rib thoracic dysplasia 19 with or without polydactyly (#617895) in OMIM

PMID: 27666822 - Duran et al 2016 - 2 cases. Family 1 - male infant (R98-443) with features consistent with Asphyxiating thoracic dystrophy (ATD). The radiographic abnormalities included midface hypoplasia, dolichocephaly, a prominent occiput , short ribs, handlebar clavicles and short, curved appendicular bones, with the upper limbs particularly abnormally shaped. There was no polydactyly on either the hands or feet. They identified compound heterozygosity for two variants: p.Leu29Phe and p.Arg512*. Family 2 - fetus (R13-147A) suspected to have SRPS by prenatal ultrasonography. Postnatal radiographs showed dolichocephaly, a prominent occiput, midface hypoplasia, a very small thorax with shortened horizontal ribs, markedly short long bones with rounded metaphyses and marked hypoplasia of the radii, ulnae, tibiae and fibulae. Other radiographic features included small iliac bones and postaxial polydactyly of all extremities. They identified compound heterozygosity for variants in IFT81: p.Leu262 and p.Leu435del). Cultured chondrocytes from one patient showed decreased levels of transcript. Mutant cells produced elongated cilia, had altered hedgehog signaling, had increased post-translation modification of tubulin, and showed evidence of destabilization of additional anterograde transport complex components

PMID: 26275418 - Perrault et al 2015 - identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly. The variant has been classified as a VUS in OMIM as its contribution to nephronophthisis-related ciliopathy has not be confirmed.

PMID: 28460050 - Dharmat et al 2017 - Compound heterozygous mutations in IFT81 were identified in a nonsyndromic Cone rod dystrophy proband.

PMID: 30080953 - Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). He had narrow thorax, short arms, brachydactyly and short stature. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.

Summary - 2 cases with SNVs and strong skeletal phenotype, one with some functional data. 3rd case with polydactyly the only skeletal component of the phenotype. 4th case with tandem duplication of 2 exons. ; to: Associated with Short-rib thoracic dysplasia 19 with or without polydactyly (#617895) in OMIM

PMID: 27666822 - Duran et al 2016 - 2 cases. Family 1 - male infant (R98-443) with features consistent with Asphyxiating thoracic dystrophy (ATD). The radiographic abnormalities included midface hypoplasia, dolichocephaly, a prominent occiput , short ribs, handlebar clavicles and short, curved appendicular bones, with the upper limbs particularly abnormally shaped. There was no polydactyly on either the hands or feet. They identified compound heterozygosity for two variants: p.Leu29Phe and p.Arg512*. Family 2 - fetus (R13-147A) suspected to have SRPS by prenatal ultrasonography. Postnatal radiographs showed dolichocephaly, a prominent occiput, midface hypoplasia, a very small thorax with shortened horizontal ribs, markedly short long bones with rounded metaphyses and marked hypoplasia of the radii, ulnae, tibiae and fibulae. Other radiographic features included small iliac bones and postaxial polydactyly of all extremities. They identified compound heterozygosity for variants in IFT81: p.Leu262 and p.Leu435del). Cultured chondrocytes from one patient showed decreased levels of transcript. Mutant cells produced elongated cilia, had altered hedgehog signaling, had increased post-translation modification of tubulin, and showed evidence of destabilization of additional anterograde transport complex components

PMID: 26275418 - Perrault et al 2015 - identified a homozygous mutation in IFT81 affecting an obligatory donor splice site in an individual with nephronophthisis and polydactyly. The variant has been classified as a VUS in OMIM as its contribution to nephronophthisis-related ciliopathy has not be confirmed.

PMID: 28460050 - Dharmat et al 2017 - Compound heterozygous mutations in IFT81 were identified in a nonsyndromic Cone rod dystrophy proband.

PMID: 30080953 - Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. He had narrow thorax, short arms, brachydactyly and short stature. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.

Summary - 2 cases with SNVs and strong skeletal phenotype, one with some functional data. 3rd case with polydactyly the only skeletal component of the phenotype. 4th case with tandem duplication of 2 exons.
Skeletal dysplasia v1.192 IFT81 Eleanor Williams changed review comment from: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.; to: Additional publication - PMID: 30080953 Pettersson et al 2018 - a homozygous tandem duplication of exon 9 and 10 in IFT81 in a boy with Jeune syndrome, or short-rib thoracic dysplasia (SRTD). The duplication was predicted to disrupt the ORF and cause a truncation of the peptide sequence. Western blot analysis did not detect any wild-type IFT81 protein in fibroblasts from the patient with the IFT81 duplication, but only a shorter isoform of IFT81 that was also present in the normal control samples.
Hypogonadotropic hypogonadism (GMS) v1.0 Ivone Leong promoted panel to version 1.0
Congenital hypothyroidism v2.0 Ivone Leong promoted panel to version 2.0
Congenital hyperinsulinism v2.0 Ivone Leong promoted panel to version 2.0
Congenital hyperinsulinism v1.52 CACNA1D Ivone Leong edited their review of gene: CACNA1D: Added comment: There is currently insufficient evidence for the promotion of this gene to a different gene status; therefore, it will remain red for now.; Changed rating: RED
Neonatal diabetes v2.0 Ivone Leong promoted panel to version 2.0
Neonatal diabetes v1.46 CISD2 Ivone Leong edited their review of gene: CISD2: Added comment: Submitted on hehalf of Jayne Houghton (Royal Devon and Exeter Foundation Trust): "This gene is a known cause of Wolfram-like syndrome. There has been no reported cases of mutations in this gene in patients diagnosed with neonatal diabetes. However it is included in our Exeter panel since we have reported cases of neonatal diabetes in the other Wolfram gene, WFS1."; Changed rating: RED
Neonatal diabetes v1.46 AGPAT2 Ivone Leong edited their review of gene: AGPAT2: Added comment: Submitted on behalf of Jayne Houghton (Royal Devon and Exeter Foundation Trust): "We have identified pathogenic variants in this gene in only two patients with neonatal diabetes from two different families. Therefore there is currently insufficient evidence for this being a neonatal diabetes gene (only 2 unrelated cases) and so this should not currently be changed to green using panelapp guidelines."; Changed rating: RED
Monogenic diabetes v2.0 Ivone Leong promoted panel to version 2.0
Inherited predisposition to GIST v0.21 SDHD Ivone Leong commented on gene: SDHD
Inherited predisposition to GIST v0.21 SDHC Ivone Leong commented on gene: SDHC
Inherited predisposition to GIST v0.21 SDHB Ivone Leong commented on gene: SDHB
Inherited predisposition to GIST v0.21 SDHA Ivone Leong commented on gene: SDHA
Inherited predisposition to GIST v0.21 PDGFRA Ivone Leong commented on gene: PDGFRA
Inherited predisposition to GIST v0.21 KIT Ivone Leong commented on gene: KIT
Inherited predisposition to GIST v0.21 Ivone Leong List of related panels changed from to R363
Familial rhabdoid tumours v0.8 SMARCB1 Ivone Leong commented on gene: SMARCB1
Familial rhabdoid tumours v0.8 SMARCA4 Ivone Leong commented on gene: SMARCA4
Familial rhabdoid tumours v0.8 Ivone Leong List of related panels changed from to R358
Skeletal dysplasia v1.192 B9D1 Eleanor Williams changed review comment from: Associated with ?Meckel syndrome 9 (#614209) and Joubert syndrome 27 (#617120) in OMIM.
Gene2Phenotype reports a probable association with MECKEL SYNDROME 9.

PMID: 24886560 - Romani et al 2014 - report mutations in B9D1 in two patients, a 9-year-old boy (COR363) and a 7-year-old girl (COR346), both presenting with pure JS. The mutations (cG467A; p.R156Q homo, and cA95G; p.Y32C, c.520-522delGTG; p.V175del) were inherited from heterozygous healthy parents, were not reported in public databases, and affected highly conserved residues. Missense mutations were predicted as pathogenic by prediction web tools. Neither patient showed polydactyly or orofacial features although patient COR363's facial dysmorphisms included a triangular face, retrognatism, accentuated philtrum and big ears, and patient COR346's dysmorphic facial features included frontal bossing, macrostomia, thick lips and low-set ears.

PMID: 21493627 - Hopp et al 2011 - In family M456 with Meckel syndrome (MKS), a splice-donor site change in B9D1 was detected in a fetus (c.505+2T>C). Sanger sequencing revealed likely hemizygosity of this variant, with a de novo deletion of the B9D1 locus in the fetus. The deletion spans 1.713 Mb at chromosome 17p11.2, including the complete B9D1 locus. Additionally, 18 other genes were deleted. The authors also identified a novel change in a second MKS gene, CEP290. Sanger sequencing showed that the heterozygous variant, p.R2210C, was inherited from the mother.
Polydactyly, that is typical in MKS, was not noted but the fetus had bilateral club feet and shortened limbs.; to: Associated with ?Meckel syndrome 9 (#614209) and Joubert syndrome 27 (#617120) in OMIM.
Gene2Phenotype reports a probable association with MECKEL SYNDROME 9.

PMID: 24886560 - Romani et al 2014 - report mutations in B9D1 in two unrelated patients, a 9-year-old boy (COR363) and a 7-year-old girl (COR346), both presenting with pure JS. The mutations (cG467A; p.R156Q homo, and cA95G; p.Y32C, c.520-522delGTG; p.V175del) were inherited from heterozygous healthy parents, were not reported in public databases, and affected highly conserved residues. Missense mutations were predicted as pathogenic by prediction web tools. Neither patient showed polydactyly or orofacial features although patient COR363's facial dysmorphisms included a triangular face, retrognatism, accentuated philtrum and big ears, and patient COR346's dysmorphic facial features included frontal bossing, macrostomia, thick lips and low-set ears.

PMID: 21493627 - Hopp et al 2011 - In family M456 with Meckel syndrome (MKS), a splice-donor site change in B9D1 was detected in a fetus (c.505+2T>C). Sanger sequencing revealed likely hemizygosity of this variant, with a de novo deletion of the B9D1 locus in the fetus. The deletion spans 1.713 Mb at chromosome 17p11.2, including the complete B9D1 locus. Additionally, 18 other genes were deleted. The authors also identified a novel change in a second MKS gene, CEP290. Sanger sequencing showed that the heterozygous variant, p.R2210C, was inherited from the mother.
Polydactyly, that is typical in MKS, was not noted but the fetus had bilateral club feet and shortened limbs.
Inherited renal cancer v0.38 SDHD Ivone Leong changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited renal cancer v0.38 SDHC Ivone Leong changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited renal cancer v0.38 MITF Ivone Leong changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited renal cancer v0.38 CDKN2B Ivone Leong changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Inherited renal cancer v0.38 TMEM127 Ivone Leong changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Familial melanoma v0.23 TERF2IP Ivone Leong commented on gene: TERF2IP
Familial melanoma v0.23 BRCA2 Ivone Leong commented on gene: BRCA2
Familial melanoma v0.23 ACD Ivone Leong changed review comment from: Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.; to: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber.
Familial melanoma v0.23 ACD Ivone Leong commented on gene: ACD
Familial melanoma v0.23 CDKN2A Ivone Leong commented on gene: CDKN2A
Familial melanoma v0.23 CDK4 Ivone Leong commented on gene: CDK4
Familial melanoma v0.23 BAP1 Ivone Leong commented on gene: BAP1
Familial melanoma v0.23 Ivone Leong List of related panels changed from to R254
Inherited renal cancer v0.38 MITF Ivone Leong commented on gene: MITF
Inherited renal cancer v0.38 CDKN2B Ivone Leong Deleted their comment
Inherited renal cancer v0.38 CDKN2B Ivone Leong commented on gene: CDKN2B: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited renal cancer v0.38 VHL Ivone Leong commented on gene: VHL
Inherited renal cancer v0.38 SDHB Ivone Leong commented on gene: SDHB
Inherited renal cancer v0.38 PTEN Ivone Leong commented on gene: PTEN
Inherited renal cancer v0.38 FLCN Ivone Leong commented on gene: FLCN
Inherited renal cancer v0.38 MET Ivone Leong commented on gene: MET
Inherited renal cancer v0.38 FH Ivone Leong commented on gene: FH
Inherited renal cancer v0.38 BAP1 Ivone Leong commented on gene: BAP1
Inherited renal cancer v0.38 Ivone Leong List of related panels changed from to R224
Skeletal dysplasia v1.192 MMP9 Eleanor Williams changed review comment from: Associated with Metaphyseal anadysplasia 2 (613073) in OMIM

PMID: 19615667 - Lausch et al 2009 - 1 family. In a recessive kindred, family E, MMP13 was normal, but a c.21T>A transversion in exon 1 altered the start codon of MMP9, substituting methionine with lysine. The variant segregated with the disease in the family.

PMID: 28342220 - Sharony et al 2017 - 1 family. Two affected sib fetuses with early sonographic evidence of long bone shortening and postnatally no metaphyseal changes. Whole-exome sequencing revealed homozygous mutation in MMP9 in both fetuses. NM_004994: c.[559C>T], p.(L187F).

PMID: 24781753 - Li et al 2015 - 0 families. 2 brothers with short stature and mixed epiphyseal and metaphyseal dysplasia. Identified a homozygous C>T transition mutation in exon 2 of MMP13 (c.325C>T, p.(R109*). So not in MMP9.

Only 2 cases reported, 3rd had variant in MMP13 not MMP9.

Mouse model - PMID: 9590175 - Vu et al. 1998 - report that homozygous mice with a null mutation in the MMP-9/gelatinase B gene exhibit an abnormal pattern of skeletal growth plate vascularization and ossification.; to: Associated with Metaphyseal anadysplasia 2 (613073) in OMIM

PMID: 19615667 - Lausch et al 2009 - 1 family. In a recessive kindred, family E, MMP13 was normal, but a c.21T>A transversion in exon 1 altered the start codon of MMP9, substituting methionine with lysine. The variant segregated with the disease in the family.

PMID: 28342220 - Sharony et al 2017 - 1 family. Two affected sib fetuses with early sonographic evidence of long bone shortening and postnatally no metaphyseal changes. Whole-exome sequencing revealed homozygous mutation in MMP9 in both fetuses. NM_004994: c.[559C>T], p.(L187F).

PMID: 24781753 - Li et al 2015 - 0 families. 2 brothers with short stature and mixed epiphyseal and metaphyseal dysplasia. Identified a homozygous C>T transition mutation in exon 2 of MMP13 (c.325C>T, p.(R109*). So not in MMP9.

Summary: only 2 cases reported, 3rd had variant in MMP13 not MMP9.

Mouse model - PMID: 9590175 - Vu et al. 1998 - report that homozygous mice with a null mutation in the MMP-9/gelatinase B gene exhibit an abnormal pattern of skeletal growth plate vascularization and ossification.
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 POLD1 Ivone Leong commented on gene: POLD1: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 PMS2 Ivone Leong commented on gene: PMS2
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 MUTYH Ivone Leong commented on gene: MUTYH
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 MSH6 Ivone Leong commented on gene: MSH6
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 MLH1 Ivone Leong commented on gene: MLH1
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 MSH2 Ivone Leong commented on gene: MSH2
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 EPCAM Ivone Leong commented on gene: EPCAM
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 BMPR1A Ivone Leong commented on gene: BMPR1A
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 APC Ivone Leong commented on gene: APC
Inherited polyposis and early onset colorectal cancer - germline testing v0.48 Ivone Leong Panel name changed from Inherited polyposis to Inherited polyposis, R211
Hereditary haemorrhagic telangiectasia v1.50 EPHB4 Louise Daugherty Phenotypes for gene: EPHB4 were changed from Capillary malformation-arteriovenous malformation 2; 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM to Capillary malformation-arteriovenous malformation 2, 618196; Capillary malformation, epistaxis, telangiectasia, cerebral AVM
Inherited MMR deficiency (Lynch syndrome) v0.11 PMS2 Ivone Leong commented on gene: PMS2
Inherited MMR deficiency (Lynch syndrome) v0.11 MSH6 Ivone Leong commented on gene: MSH6
Inherited MMR deficiency (Lynch syndrome) v0.11 MSH2 Ivone Leong commented on gene: MSH2
Inherited MMR deficiency (Lynch syndrome) v0.11 MLH1 Ivone Leong commented on gene: MLH1
Inherited MMR deficiency (Lynch syndrome) v0.11 EPCAM Ivone Leong commented on gene: EPCAM
Inherited MMR deficiency (Lynch syndrome) v0.11 Ivone Leong Panel name changed from Inherited MMR deficiency (Lynch syndrome) to Inherited MMR deficiency (Lynch syndrome), R210
GI tract tumours v1.13 CDH1 Ivone Leong commented on gene: CDH1
GI tract tumours v1.13 STK11 Ivone Leong commented on gene: STK11
GI tract tumours v1.13 SMAD4 Ivone Leong commented on gene: SMAD4
GI tract tumours v1.13 PTEN Ivone Leong commented on gene: PTEN
GI tract tumours v1.13 POLE Ivone Leong commented on gene: POLE
GI tract tumours v1.13 POLD1 Ivone Leong commented on gene: POLD1
GI tract tumours v1.13 PMS2 Ivone Leong commented on gene: PMS2
GI tract tumours v1.13 NTHL1 Ivone Leong commented on gene: NTHL1
GI tract tumours v1.13 MUTYH Ivone Leong commented on gene: MUTYH
GI tract tumours v1.13 MSH6 Ivone Leong commented on gene: MSH6
GI tract tumours v1.13 MSH2 Ivone Leong commented on gene: MSH2
GI tract tumours v1.13 MLH1 Ivone Leong commented on gene: MLH1
GI tract tumours v1.13 APC Ivone Leong commented on gene: APC
GI tract tumours v1.13 BMPR1A Ivone Leong commented on gene: BMPR1A
Inherited ovarian cancer (without breast cancer) v1.9 PMS2 Ivone Leong commented on gene: PMS2
Inherited ovarian cancer (without breast cancer) v1.9 RAD51D Ivone Leong commented on gene: RAD51D
Inherited ovarian cancer (without breast cancer) v1.9 RAD51C Ivone Leong commented on gene: RAD51C
Inherited ovarian cancer (without breast cancer) v1.9 MSH6 Ivone Leong commented on gene: MSH6
Inherited ovarian cancer (without breast cancer) v1.9 MSH2 Ivone Leong commented on gene: MSH2
Inherited ovarian cancer (without breast cancer) v1.9 MLH1 Ivone Leong commented on gene: MLH1
Inherited ovarian cancer (without breast cancer) v1.9 BRIP1 Ivone Leong commented on gene: BRIP1
Inherited ovarian cancer (without breast cancer) v1.9 BRCA2 Ivone Leong commented on gene: BRCA2
Inherited ovarian cancer (without breast cancer) v1.9 BRCA1 Ivone Leong commented on gene: BRCA1
GI tract tumours v1.13 Ivone Leong List of related panels changed from GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract to GI tract tumours; Familial colon cancer; Multiple bowel polyps; Peutz-Jeghers syndrome; GI tract; R209
Inherited ovarian cancer (without breast cancer) v1.9 Ivone Leong List of related panels changed from Familial ovarian cancer to Familial ovarian cancer; R207
Ehlers Danlos syndrome with a likely monogenic cause v1.61 ABL1 Eleanor Williams changed review comment from: Comment on list classification: Downgrading from Green to Amber on advice of Neeti Ghali and Fleur Dijk who are part of the GMS Musculoskeletal specialist test group. The advise that it does not need to be green on the EDS panel.; to: Comment on list classification: Downgrading from Green to Amber on advice of Neeti Ghali and Fleur Dijk who are part of the GMS Musculoskeletal specialist test group. They advise that it does not need to be green on the EDS panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.61 COL2A1 Eleanor Williams Classified gene: COL2A1 as No list
Ehlers Danlos syndrome with a likely monogenic cause v1.61 COL2A1 Eleanor Williams Added comment: Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.
Ehlers Danlos syndrome with a likely monogenic cause v1.61 COL2A1 Eleanor Williams Gene: col2a1 has been removed from the panel.
Skeletal ciliopathies v0.11 Eleanor Williams Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Ehlers Danlos syndrome with a likely monogenic cause v1.60 ABL1 Eleanor Williams Classified gene: ABL1 as Amber List (moderate evidence)
Ehlers Danlos syndrome with a likely monogenic cause v1.60 ABL1 Eleanor Williams Added comment: Comment on list classification: Downgrading from Green to Amber on advice of Neeti Ghali and Fleur Dijk who are part of the GMS Musculoskeletal specialist test group. The advise that it does not need to be green on the EDS panel.
Ehlers Danlos syndrome with a likely monogenic cause v1.60 ABL1 Eleanor Williams Gene: abl1 has been classified as Amber List (Moderate Evidence).
Corneal dystrophy v0.6 TCF4 Ivone Leong Classified gene: TCF4 as Green List (high evidence)
Corneal dystrophy v0.6 TCF4 Ivone Leong Gene: tcf4 has been classified as Green List (High Evidence).
Corneal dystrophy v0.5 TCF4 Ivone Leong gene: TCF4 was added
gene: TCF4 was added to Corneal dystrophies. Sources: Expert list
STR tags were added to gene: TCF4.
Mode of inheritance for gene: TCF4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCF4 were set to 29526280; 26401622
Phenotypes for gene: TCF4 were set to Corneal dystrophy, Fuchs endothelial, 3, 613267
Review for gene: TCF4 was set to GREEN
Added comment: TCF4 is associated with Corneal dystrophy in OMIM but not in Gene2Phenotype. There is enough evidence for this gene to be rated green on this panel. It should be noted that the CTG18.1 repeat expansion in the intronic region of TCF4 may be difficult to analyse due to technical difficulties with short-read WGS.
Sources: Expert list
Cerebral malformation v2.64 Louise Daugherty Changed child panels to: Malformations of cortical development; Holoprosencephaly; Ataxia and cerebellar anomalies - narrow panel; Neurological ciliopathies; Neurological segmental overgrowth
Cerebral malformation v2.63 Louise Daugherty Changed child panels to: Malformations of cortical development; Hydrocephalus; Holoprosencephaly; Ataxia and cerebellar anomalies - narrow panel; Neurological ciliopathies; Neurological segmental overgrowth
Neurological segmental overgrowth v0.5 Louise Daugherty Panel status changed from internal to public
Neurological segmental overgrowth v0.2 TBC1D7 Louise Daugherty gene: TBC1D7 was added
gene: TBC1D7 was added to Neurological segmental overgrowth. Sources: Expert Review Red
Mode of inheritance for gene: TBC1D7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D7 were set to MGCPH; Macrocephaly/megalencephaly syndrome, autosomal recessive, 248000
Neurological segmental overgrowth v0.2 NRAS Louise Daugherty gene: NRAS was added
gene: NRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red
Mode of inheritance for gene: NRAS was set to
Phenotypes for gene: NRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly
Neurological segmental overgrowth v0.2 MTOR Louise Daugherty gene: MTOR was added
gene: MTOR was added to Neurological segmental overgrowth. Sources: Expert Review Red
Mode of inheritance for gene: MTOR was set to
Phenotypes for gene: MTOR were set to Segmental Overgrowth Syndrome; HME; Hemimegalencephaly
Neurological segmental overgrowth v0.2 KRAS Louise Daugherty gene: KRAS was added
gene: KRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red
Mode of inheritance for gene: KRAS was set to
Phenotypes for gene: KRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly
Neurological segmental overgrowth v0.2 HRAS Louise Daugherty gene: HRAS was added
gene: HRAS was added to Neurological segmental overgrowth. Sources: Expert Review Red
Mode of inheritance for gene: HRAS was set to
Phenotypes for gene: HRAS were set to Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200; Hemimegalencephaly
Neurological segmental overgrowth v0.2 AKT2 Louise Daugherty gene: AKT2 was added
gene: AKT2 was added to Neurological segmental overgrowth. Sources: Expert Review Red
Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: AKT2 were set to HIHGHH; Hypoinsulinemic hypoglycemia with hemihypertrophy; Hypoinsulinemic hypoglycemia with hemihypertrophy,240900; Hypoinsulinemic hypoglycemia with hemihypertrophy, 240900
Neurological segmental overgrowth v0.2 PTEN Louise Daugherty gene: PTEN was added
gene: PTEN was added to Neurological segmental overgrowth. Sources: Expert Review Green
Mode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PTEN were set to hemihypertrophy; Bannayan Riley Ruvalcalba Syndrome; Bannayan-Riley-Ruvalcaba Syndrome; Proteus-like syndrome; macrocephaly; Bannayan-Riley-Ruvalcaba syndrome, 153480; BRRS; Bannayan-Riley-Ruvalcaba syndrome,153480; megalencephaly; PTEN Hamartoma Tumor Syndrome; Macrocephaly and Overgrowth Syndromes; PHTS; Cowden syndrome
Neurological segmental overgrowth v0.2 PIK3R2 Louise Daugherty gene: PIK3R2 was added
gene: PIK3R2 was added to Neurological segmental overgrowth. Sources: Expert Review Green
Mode of inheritance for gene: PIK3R2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3R2 were set to MPPH1; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, 603387; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 1; Macrocephaly and Overgrowth Syndromes
Neurological segmental overgrowth v0.2 PIK3CA Louise Daugherty gene: PIK3CA was added
gene: PIK3CA was added to Neurological segmental overgrowth. Sources: Expert Review Green
Mode of inheritance for gene: PIK3CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PIK3CA were set to Megalencephaly-capillary malformation-polymicrogyria syndrome, 602501; CLOVE syndrome; CLOVES; congenital lipomatous overgrowth, vascular malformations, and epidermal nevi, 612918; Congenital Lipomatous Overgrowth Vascular Malformations, Epidermal Nevi and Scoliosis/Skeletal/Spinal anomalies syndrome; CLOVES syndrome; Megalencephaly-capillary malformation-polymicrogyria syndrome, somatic; Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi; Megalencephaly-Capillary Malformation- Polymicrogyria Syndrome; macrocephaly-capillary malformation (MCM) syndrome; Megalencephaly-Capillary malformation syndrome; Macrocephaly and Overgrowth Syndromes; MCAP
Neurological segmental overgrowth v0.2 CCND2 Louise Daugherty gene: CCND2 was added
gene: CCND2 was added to Neurological segmental overgrowth. Sources: Expert Review Green
Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
Neurological segmental overgrowth v0.2 AKT3 Louise Daugherty gene: AKT3 was added
gene: AKT3 was added to Neurological segmental overgrowth. Sources: Expert Review Green
Mode of inheritance for gene: AKT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT3 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, 615937; Macrocephaly and Overgrowth Syndromes; MPPH2; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2
Neurological segmental overgrowth v0.2 AKT1 Louise Daugherty gene: AKT1 was added
gene: AKT1 was added to Neurological segmental overgrowth. Sources: Expert Review Green
Mode of inheritance for gene: AKT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: AKT1 were set to Proteus syndrome, 176920; Proteus syndrome, somatic,176920; Macrocephaly and Overgrowth Syndromes; Segmental Overgrowth Syndrome; Proteus syndrome
Neurological segmental overgrowth v0.0 Louise Daugherty Added Panel Neurological segmental overgrowth
Set panel types to: GMS Rare Disease Virtual; Component Of Super Panel
Severe microcephaly v1.67 ISCA-37501-Loss Louise Daugherty Source NHS GMS was added to Region: ISCA-37501-Loss.
Severe microcephaly v1.66 ISCA-37425-Gain Louise Daugherty Haploinsufficiency Score for ISCA-37425-Gain was changed from to None.
Source NHS GMS was added to Region: ISCA-37425-Gain.
Severe microcephaly v1.65 ISCA-37408-Loss Louise Daugherty Triplosensitivity Score for ISCA-37408-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37408-Loss.
Severe microcephaly v1.64 ISCA-37406-Loss Louise Daugherty Triplosensitivity Score for ISCA-37406-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37406-Loss.
Severe microcephaly v1.63 ISCA-37390-Loss Louise Daugherty Triplosensitivity Score for ISCA-37390-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37390-Loss.
Severe microcephaly v1.62 ISCA-37390-Loss Louise Daugherty reviewed Region: ISCA-37390-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v1.62 ISCA-37406-Loss Louise Daugherty reviewed Region: ISCA-37406-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v1.62 ISCA-37408-Loss Louise Daugherty reviewed Region: ISCA-37408-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v1.62 ISCA-37425-Gain Louise Daugherty reviewed Region: ISCA-37425-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v1.62 ISCA-37501-Loss Louise Daugherty commented on Region: ISCA-37501-Loss: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this region Green
Severe microcephaly v1.62 WDFY3 Louise Daugherty reviewed gene: WDFY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TUBGCP3 Louise Daugherty reviewed gene: TUBGCP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TRMT1 Louise Daugherty reviewed gene: TRMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 SASS6 Louise Daugherty reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PPP1R15B Louise Daugherty reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PLAA Louise Daugherty reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PHC1 Louise Daugherty reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 NSMCE2 Louise Daugherty reviewed gene: NSMCE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 NIN Louise Daugherty reviewed gene: NIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCM Louise Daugherty reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ERCC5 Louise Daugherty reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 EOMES Louise Daugherty reviewed gene: EOMES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DNA2 Louise Daugherty reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CENPE Louise Daugherty reviewed gene: CENPE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CDK6 Louise Daugherty reviewed gene: CDK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CDC6 Louise Daugherty reviewed gene: CDC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ATRIP Louise Daugherty reviewed gene: ATRIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ANKLE2 Louise Daugherty reviewed gene: ANKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 AGMO Louise Daugherty reviewed gene: AGMO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ZNF335 Louise Daugherty reviewed gene: ZNF335: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 WDR4 Louise Daugherty edited their review of gene: WDR4: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Severe microcephaly v1.62 TAF13 Louise Daugherty reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RMI1 Louise Daugherty reviewed gene: RMI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RAD51C Louise Daugherty reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 QARS Louise Daugherty reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 MRE11 Louise Daugherty commented on gene: MRE11: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Severe microcephaly v1.62 CRIPT Louise Daugherty reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 COASY Louise Daugherty commented on gene: COASY: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Severe microcephaly v1.62 ZEB2 Louise Daugherty reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 XRCC4 Louise Daugherty reviewed gene: XRCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 WDR73 Louise Daugherty reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 WDR62 Louise Daugherty reviewed gene: WDR62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TUBGCP6 Louise Daugherty reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TUBGCP4 Louise Daugherty reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TRMT10A Louise Daugherty reviewed gene: TRMT10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TRAIP Louise Daugherty reviewed gene: TRAIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TOP3A Louise Daugherty reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 STIL Louise Daugherty reviewed gene: STIL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 STAMBP Louise Daugherty reviewed gene: STAMBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 SMC3 Louise Daugherty reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 SMC1A Louise Daugherty reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 SLX4 Louise Daugherty reviewed gene: SLX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 SLC9A6 Louise Daugherty reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 SLC25A19 Louise Daugherty reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RTTN Louise Daugherty reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RPL10 Louise Daugherty reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RNU4ATAC Louise Daugherty reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RBBP8 Louise Daugherty reviewed gene: RBBP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RAD21 Louise Daugherty reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PQBP1 Louise Daugherty reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 POC1A Louise Daugherty reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PNKP Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PLK4 Louise Daugherty reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PDHA1 Louise Daugherty reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PCNT Louise Daugherty reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PALB2 Louise Daugherty reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ORC6 Louise Daugherty reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ORC4 Louise Daugherty reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ORC1 Louise Daugherty reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 NIPBL Louise Daugherty reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 NHEJ1 Louise Daugherty reviewed gene: NHEJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 NDE1 Louise Daugherty reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 NBN Louise Daugherty reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 MYCN Louise Daugherty reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 MSMO1 Louise Daugherty reviewed gene: MSMO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 MFSD2A Louise Daugherty reviewed gene: MFSD2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 MCPH1 Louise Daugherty reviewed gene: MCPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 LIG4 Louise Daugherty reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 LARP7 Louise Daugherty reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 KIF11 Louise Daugherty reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 IGF1R Louise Daugherty reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 IGF1 Louise Daugherty reviewed gene: IGF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 IER3IP1 Louise Daugherty reviewed gene: IER3IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 IARS Louise Daugherty edited their review of gene: IARS: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER
Severe microcephaly v1.62 HDAC8 Louise Daugherty reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 GMNN Louise Daugherty reviewed gene: GMNN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCL Louise Daugherty reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCI Louise Daugherty reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCG Louise Daugherty reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCF Louise Daugherty reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCE Louise Daugherty reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCD2 Louise Daugherty reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCC Louise Daugherty reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCB Louise Daugherty reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCA Louise Daugherty reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ERCC8 Louise Daugherty reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ERCC6 Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ERCC4 Louise Daugherty reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 EFTUD2 Louise Daugherty reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DYRK1A Louise Daugherty reviewed gene: DYRK1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DPP6 Louise Daugherty reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DONSON Louise Daugherty reviewed gene: DONSON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DIAPH1 Louise Daugherty reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DHCR7 Louise Daugherty reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DDX11 Louise Daugherty reviewed gene: DDX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CTNNB1 Louise Daugherty reviewed gene: CTNNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CREBBP Louise Daugherty reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CKAP2L Louise Daugherty reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CIT Louise Daugherty reviewed gene: CIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CEP63 Louise Daugherty reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CEP152 Louise Daugherty reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CEP135 Louise Daugherty reviewed gene: CEP135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CENPJ Louise Daugherty reviewed gene: CENPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CENPF Louise Daugherty reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CDT1 Louise Daugherty reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CDK5RAP2 Louise Daugherty reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CASK Louise Daugherty reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 BRIP1 Louise Daugherty reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 BRCA2 Louise Daugherty reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 BLM Louise Daugherty reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ATRX Louise Daugherty reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ATR Louise Daugherty reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ASPM Louise Daugherty reviewed gene: ASPM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PRUNE1 Louise Daugherty reviewed gene: PRUNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 KNL1 Louise Daugherty reviewed gene: KNL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 KIF1BP Louise Daugherty reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.61 UFC1 Louise Daugherty Source NHS GMS was added to UFC1.
Severe microcephaly v1.61 ZNHIT3 Louise Daugherty Source NHS GMS was added to ZNHIT3.
Severe microcephaly v1.61 PCLO Louise Daugherty Source NHS GMS was added to PCLO.
Severe microcephaly v1.61 UFM1 Louise Daugherty Source NHS GMS was added to UFM1.
Severe microcephaly v1.61 UBA5 Louise Daugherty Source NHS GMS was added to UBA5.
Severe microcephaly v1.61 CCDC88A Louise Daugherty Source NHS GMS was added to CCDC88A.
Severe microcephaly v1.61 WDFY3 Louise Daugherty Source NHS GMS was added to WDFY3.
Severe microcephaly v1.61 TUBGCP3 Louise Daugherty Source NHS GMS was added to TUBGCP3.
Severe microcephaly v1.61 TRMT1 Louise Daugherty Source NHS GMS was added to TRMT1.
Severe microcephaly v1.61 SASS6 Louise Daugherty Source NHS GMS was added to SASS6.
Severe microcephaly v1.61 PPP1R15B Louise Daugherty Source NHS GMS was added to PPP1R15B.
Severe microcephaly v1.61 PLAA Louise Daugherty Source NHS GMS was added to PLAA.
Severe microcephaly v1.61 PHC1 Louise Daugherty Source NHS GMS was added to PHC1.
Severe microcephaly v1.61 NSMCE2 Louise Daugherty Source NHS GMS was added to NSMCE2.
Severe microcephaly v1.61 NIN Louise Daugherty Source NHS GMS was added to NIN.
Severe microcephaly v1.61 FANCM Louise Daugherty Source NHS GMS was added to FANCM.
Severe microcephaly v1.61 ERCC5 Louise Daugherty Source NHS GMS was added to ERCC5.
Severe microcephaly v1.61 EOMES Louise Daugherty Source NHS GMS was added to EOMES.
Severe microcephaly v1.61 DNA2 Louise Daugherty Source NHS GMS was added to DNA2.
Severe microcephaly v1.61 CENPE Louise Daugherty Source NHS GMS was added to CENPE.
Severe microcephaly v1.61 CDK6 Louise Daugherty Source NHS GMS was added to CDK6.
Severe microcephaly v1.61 CDC6 Louise Daugherty Source NHS GMS was added to CDC6.
Severe microcephaly v1.61 ATRIP Louise Daugherty Source NHS GMS was added to ATRIP.
Severe microcephaly v1.61 ANKLE2 Louise Daugherty Source NHS GMS was added to ANKLE2.
Severe microcephaly v1.61 AGMO Louise Daugherty Source NHS GMS was added to AGMO.
Severe microcephaly v1.61 ZNF335 Louise Daugherty Source NHS GMS was added to ZNF335.
Severe microcephaly v1.61 WDR4 Louise Daugherty Source NHS GMS was added to WDR4.
Severe microcephaly v1.61 TAF13 Louise Daugherty Source NHS GMS was added to TAF13.
Severe microcephaly v1.61 RMI1 Louise Daugherty Source NHS GMS was added to RMI1.
Severe microcephaly v1.61 RAD51C Louise Daugherty Source NHS GMS was added to RAD51C.
Severe microcephaly v1.61 QARS Louise Daugherty Source NHS GMS was added to QARS.
Severe microcephaly v1.61 MRE11 Louise Daugherty Source NHS GMS was added to MRE11.
Severe microcephaly v1.61 CRIPT Louise Daugherty Source NHS GMS was added to CRIPT.