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Neurodegenerative disorders, adult onset v1.101 FOLR1 Louise Daugherty commented on gene: FOLR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 FMR1 Louise Daugherty commented on gene: FMR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 FLVCR1 Louise Daugherty commented on gene: FLVCR1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 FIG4 Louise Daugherty commented on gene: FIG4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 FGF14 Louise Daugherty commented on gene: FGF14: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 FBXO7 Louise Daugherty commented on gene: FBXO7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 FARS2 Louise Daugherty commented on gene: FARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 FA2H Louise Daugherty commented on gene: FA2H: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 EXOSC3 Louise Daugherty commented on gene: EXOSC3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ERLIN2 Louise Daugherty commented on gene: ERLIN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 EPM2A Louise Daugherty commented on gene: EPM2A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ELOVL4 Louise Daugherty commented on gene: ELOVL4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 EIF2B5 Louise Daugherty commented on gene: EIF2B5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 EIF2B4 Louise Daugherty commented on gene: EIF2B4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 EIF2B3 Louise Daugherty commented on gene: EIF2B3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 EIF2B2 Louise Daugherty commented on gene: EIF2B2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 EIF2B1 Louise Daugherty commented on gene: EIF2B1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 DNMT1 Louise Daugherty commented on gene: DNMT1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 DNAJC6 Louise Daugherty commented on gene: DNAJC6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 DNAJC5 Louise Daugherty commented on gene: DNAJC5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 DNAJC19 Louise Daugherty commented on gene: DNAJC19: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 DDHD2 Louise Daugherty commented on gene: DDHD2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 DDHD1 Louise Daugherty commented on gene: DDHD1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 DCTN1 Louise Daugherty commented on gene: DCTN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 DCAF17 Louise Daugherty commented on gene: DCAF17: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 DARS2 Louise Daugherty commented on gene: DARS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CYP7B1 Louise Daugherty commented on gene: CYP7B1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CYP2U1 Louise Daugherty commented on gene: CYP2U1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CYP27A1 Louise Daugherty commented on gene: CYP27A1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CWF19L1 Louise Daugherty commented on gene: CWF19L1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CSTB Louise Daugherty commented on gene: CSTB: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CSF1R Louise Daugherty commented on gene: CSF1R: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CP Louise Daugherty commented on gene: CP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 COX20 Louise Daugherty commented on gene: COX20: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 COQ8A Louise Daugherty commented on gene: COQ8A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 COASY Louise Daugherty commented on gene: COASY: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CLN6 Louise Daugherty commented on gene: CLN6: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CLCN2 Louise Daugherty commented on gene: CLCN2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CHMP2B Louise Daugherty commented on gene: CHMP2B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CHMP1A Louise Daugherty commented on gene: CHMP1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CASK Louise Daugherty commented on gene: CASK: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CAPN1 Louise Daugherty commented on gene: CAPN1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CAMTA1 Louise Daugherty commented on gene: CAMTA1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CACNB4 Louise Daugherty commented on gene: CACNB4: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CACNA1G Louise Daugherty commented on gene: CACNA1G: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CACNA1A Louise Daugherty commented on gene: CACNA1A: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 CA8 Louise Daugherty commented on gene: CA8: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 C19orf12 Louise Daugherty commented on gene: C19orf12: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 C12orf65 Louise Daugherty commented on gene: C12orf65: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 BSCL2 Louise Daugherty commented on gene: BSCL2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ATP7B Louise Daugherty commented on gene: ATP7B: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ATP1A3 Louise Daugherty commented on gene: ATP1A3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ATP1A2 Louise Daugherty commented on gene: ATP1A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ATM Louise Daugherty commented on gene: ATM: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ATL1 Louise Daugherty commented on gene: ATL1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ATCAY Louise Daugherty commented on gene: ATCAY: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ARSA Louise Daugherty commented on gene: ARSA: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 AR Louise Daugherty commented on gene: AR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 APTX Louise Daugherty commented on gene: APTX: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 APP Louise Daugherty commented on gene: APP: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 AP4S1 Louise Daugherty commented on gene: AP4S1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 AP4M1 Louise Daugherty commented on gene: AP4M1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 AP4E1 Louise Daugherty commented on gene: AP4E1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 AP4B1 Louise Daugherty commented on gene: AP4B1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 AP1S2 Louise Daugherty commented on gene: AP1S2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ANO3 Louise Daugherty commented on gene: ANO3: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ANO10 Louise Daugherty commented on gene: ANO10: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ANG Louise Daugherty commented on gene: ANG: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 AMPD2 Louise Daugherty commented on gene: AMPD2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ALS2 Louise Daugherty commented on gene: ALS2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ALDH18A1 Louise Daugherty commented on gene: ALDH18A1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 AIMP1 Louise Daugherty commented on gene: AIMP1: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ADCY5 Louise Daugherty commented on gene: ADCY5: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ADAR Louise Daugherty commented on gene: ADAR: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ABHD12 Louise Daugherty commented on gene: ABHD12: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 ABCB7 Louise Daugherty commented on gene: ABCB7: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.101 AAAS Louise Daugherty commented on gene: AAAS: Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Neurodegenerative disorders, adult onset v1.100 VAMP1 Louise Daugherty Source Wessex and West Midlands GLH was added to VAMP1.
Neurodegenerative disorders, adult onset v1.100 TAF1 Louise Daugherty Source Wessex and West Midlands GLH was added to TAF1.
Neurodegenerative disorders, adult onset v1.100 REEP2 Louise Daugherty Source Wessex and West Midlands GLH was added to REEP2.
Neurodegenerative disorders, adult onset v1.100 NEFH Louise Daugherty Source Wessex and West Midlands GLH was added to NEFH.
Neurodegenerative disorders, adult onset v1.100 MVK Louise Daugherty Source Wessex and West Midlands GLH was added to MVK.
Neurodegenerative disorders, adult onset v1.100 MAG Louise Daugherty Source Wessex and West Midlands GLH was added to MAG.
Neurodegenerative disorders, adult onset v1.100 KDM5C Louise Daugherty Source Wessex and West Midlands GLH was added to KDM5C.
Neurodegenerative disorders, adult onset v1.100 KCNK18 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNK18.
Neurodegenerative disorders, adult onset v1.100 IBA57 Louise Daugherty Source Wessex and West Midlands GLH was added to IBA57.
Neurodegenerative disorders, adult onset v1.100 GNAL Louise Daugherty Source Wessex and West Midlands GLH was added to GNAL.
Neurodegenerative disorders, adult onset v1.100 GCH1 Louise Daugherty Source Wessex and West Midlands GLH was added to GCH1.
Neurodegenerative disorders, adult onset v1.100 DMXL2 Louise Daugherty Source Wessex and West Midlands GLH was added to DMXL2.
Neurodegenerative disorders, adult onset v1.100 DARS Louise Daugherty Source Wessex and West Midlands GLH was added to DARS.
Neurodegenerative disorders, adult onset v1.100 COG5 Louise Daugherty Source Wessex and West Midlands GLH was added to COG5.
Neurodegenerative disorders, adult onset v1.100 CIZ1 Louise Daugherty Source Wessex and West Midlands GLH was added to CIZ1.
Neurodegenerative disorders, adult onset v1.100 CHCHD2 Louise Daugherty Source Wessex and West Midlands GLH was added to CHCHD2.
Neurodegenerative disorders, adult onset v1.100 CDK16 Louise Daugherty Source Wessex and West Midlands GLH was added to CDK16.
Neurodegenerative disorders, adult onset v1.100 HACE1 Louise Daugherty Source Wessex and West Midlands GLH was added to HACE1.
Neurodegenerative disorders, adult onset v1.100 ERLIN1 Louise Daugherty Source Wessex and West Midlands GLH was added to ERLIN1.
Neurodegenerative disorders, adult onset v1.100 ARG1 Louise Daugherty Source Wessex and West Midlands GLH was added to ARG1.
Neurodegenerative disorders, adult onset v1.100 ABCD1 Louise Daugherty Source Wessex and West Midlands GLH was added to ABCD1.
Neurodegenerative disorders, adult onset v1.100 ZFYVE26 Louise Daugherty Source Wessex and West Midlands GLH was added to ZFYVE26.
Neurodegenerative disorders, adult onset v1.100 YY1 Louise Daugherty Source Wessex and West Midlands GLH was added to YY1.
Neurodegenerative disorders, adult onset v1.100 WWOX Louise Daugherty Source Wessex and West Midlands GLH was added to WWOX.
Neurodegenerative disorders, adult onset v1.100 WFS1 Louise Daugherty Source Wessex and West Midlands GLH was added to WFS1.
Neurodegenerative disorders, adult onset v1.100 WDR81 Louise Daugherty Source Wessex and West Midlands GLH was added to WDR81.
Neurodegenerative disorders, adult onset v1.100 WDR73 Louise Daugherty Source Wessex and West Midlands GLH was added to WDR73.
Neurodegenerative disorders, adult onset v1.100 WDR45B Louise Daugherty Source Wessex and West Midlands GLH was added to WDR45B.
Neurodegenerative disorders, adult onset v1.100 WDR45 Louise Daugherty Source Wessex and West Midlands GLH was added to WDR45.
Neurodegenerative disorders, adult onset v1.100 WASHC5 Louise Daugherty Source Wessex and West Midlands GLH was added to WASHC5.
Neurodegenerative disorders, adult onset v1.100 VRK1 Louise Daugherty Source Wessex and West Midlands GLH was added to VRK1.
Neurodegenerative disorders, adult onset v1.100 VPS35 Louise Daugherty Source Wessex and West Midlands GLH was added to VPS35.
Neurodegenerative disorders, adult onset v1.100 VPS13D Louise Daugherty Source Wessex and West Midlands GLH was added to VPS13D.
Neurodegenerative disorders, adult onset v1.100 VPS13A Louise Daugherty Source Wessex and West Midlands GLH was added to VPS13A.
Neurodegenerative disorders, adult onset v1.100 VLDLR Louise Daugherty Source Wessex and West Midlands GLH was added to VLDLR.
Neurodegenerative disorders, adult onset v1.100 VCP Louise Daugherty Source Wessex and West Midlands GLH was added to VCP.
Neurodegenerative disorders, adult onset v1.100 VAPB Louise Daugherty Source Wessex and West Midlands GLH was added to VAPB.
Neurodegenerative disorders, adult onset v1.100 VAC14 Louise Daugherty Source Wessex and West Midlands GLH was added to VAC14.
Neurodegenerative disorders, adult onset v1.100 UBQLN2 Louise Daugherty Source Wessex and West Midlands GLH was added to UBQLN2.
Neurodegenerative disorders, adult onset v1.100 TYROBP Louise Daugherty Source Wessex and West Midlands GLH was added to TYROBP.
Neurodegenerative disorders, adult onset v1.100 TWNK Louise Daugherty Source Wessex and West Midlands GLH was added to TWNK.
Neurodegenerative disorders, adult onset v1.100 TUBB4A Louise Daugherty Source Wessex and West Midlands GLH was added to TUBB4A.
Neurodegenerative disorders, adult onset v1.100 TTPA Louise Daugherty Source Wessex and West Midlands GLH was added to TTPA.
Neurodegenerative disorders, adult onset v1.100 TTC19 Louise Daugherty Source Wessex and West Midlands GLH was added to TTC19.
Neurodegenerative disorders, adult onset v1.100 TTBK2 Louise Daugherty Source Wessex and West Midlands GLH was added to TTBK2.
Neurodegenerative disorders, adult onset v1.100 TSEN54 Louise Daugherty Source Wessex and West Midlands GLH was added to TSEN54.
Neurodegenerative disorders, adult onset v1.100 TSEN2 Louise Daugherty Source Wessex and West Midlands GLH was added to TSEN2.
Neurodegenerative disorders, adult onset v1.100 TPP1 Louise Daugherty Source Wessex and West Midlands GLH was added to TPP1.
Neurodegenerative disorders, adult onset v1.100 TOR1A Louise Daugherty Source Wessex and West Midlands GLH was added to TOR1A.
Neurodegenerative disorders, adult onset v1.100 TMEM240 Louise Daugherty Source Wessex and West Midlands GLH was added to TMEM240.
Neurodegenerative disorders, adult onset v1.100 THAP1 Louise Daugherty Source Wessex and West Midlands GLH was added to THAP1.
Neurodegenerative disorders, adult onset v1.100 TH Louise Daugherty Source Wessex and West Midlands GLH was added to TH.
Neurodegenerative disorders, adult onset v1.100 TGM6 Louise Daugherty Source Wessex and West Midlands GLH was added to TGM6.
Neurodegenerative disorders, adult onset v1.100 TBK1 Louise Daugherty Source Wessex and West Midlands GLH was added to TBK1.
Neurodegenerative disorders, adult onset v1.100 TARDBP Louise Daugherty Source Wessex and West Midlands GLH was added to TARDBP.
Neurodegenerative disorders, adult onset v1.100 SYNJ1 Louise Daugherty Source Wessex and West Midlands GLH was added to SYNJ1.
Neurodegenerative disorders, adult onset v1.100 SYNE1 Louise Daugherty Source Wessex and West Midlands GLH was added to SYNE1.
Neurodegenerative disorders, adult onset v1.100 STUB1 Louise Daugherty Source Wessex and West Midlands GLH was added to STUB1.
Neurodegenerative disorders, adult onset v1.100 SRD5A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SRD5A3.
Neurodegenerative disorders, adult onset v1.100 SPTBN2 Louise Daugherty Source Wessex and West Midlands GLH was added to SPTBN2.
Neurodegenerative disorders, adult onset v1.100 SPR Louise Daugherty Source Wessex and West Midlands GLH was added to SPR.
Neurodegenerative disorders, adult onset v1.100 SPG7 Louise Daugherty Source Wessex and West Midlands GLH was added to SPG7.
Neurodegenerative disorders, adult onset v1.100 SPG21 Louise Daugherty Source Wessex and West Midlands GLH was added to SPG21.
Neurodegenerative disorders, adult onset v1.100 SPG11 Louise Daugherty Source Wessex and West Midlands GLH was added to SPG11.
Neurodegenerative disorders, adult onset v1.100 SPAST Louise Daugherty Source Wessex and West Midlands GLH was added to SPAST.
Neurodegenerative disorders, adult onset v1.100 SPART Louise Daugherty Source Wessex and West Midlands GLH was added to SPART.
Neurodegenerative disorders, adult onset v1.100 SOD1 Louise Daugherty Source Wessex and West Midlands GLH was added to SOD1.
Neurodegenerative disorders, adult onset v1.100 SNX14 Louise Daugherty Source Wessex and West Midlands GLH was added to SNX14.
Neurodegenerative disorders, adult onset v1.100 SNCA Louise Daugherty Source Wessex and West Midlands GLH was added to SNCA.
Neurodegenerative disorders, adult onset v1.100 SLC9A6 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC9A6.
Neurodegenerative disorders, adult onset v1.100 SLC6A5 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC6A5.
Neurodegenerative disorders, adult onset v1.100 SLC6A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC6A3.
Neurodegenerative disorders, adult onset v1.100 SLC52A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC52A3.
Neurodegenerative disorders, adult onset v1.100 SLC52A2 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC52A2.
Neurodegenerative disorders, adult onset v1.100 SLC39A14 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC39A14.
Neurodegenerative disorders, adult onset v1.100 SLC30A10 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC30A10.
Neurodegenerative disorders, adult onset v1.100 SLC2A1 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC2A1.
Neurodegenerative disorders, adult onset v1.100 SLC25A46 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC25A46.
Neurodegenerative disorders, adult onset v1.100 SLC1A4 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC1A4.
Neurodegenerative disorders, adult onset v1.100 SLC1A3 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC1A3.
Neurodegenerative disorders, adult onset v1.100 SLC16A2 Louise Daugherty Source Wessex and West Midlands GLH was added to SLC16A2.
Neurodegenerative disorders, adult onset v1.100 SIL1 Louise Daugherty Source Wessex and West Midlands GLH was added to SIL1.
Neurodegenerative disorders, adult onset v1.100 SIGMAR1 Louise Daugherty Source Wessex and West Midlands GLH was added to SIGMAR1.
Neurodegenerative disorders, adult onset v1.100 SGCE Louise Daugherty Source Wessex and West Midlands GLH was added to SGCE.
Neurodegenerative disorders, adult onset v1.100 SETX Louise Daugherty Source Wessex and West Midlands GLH was added to SETX.
Neurodegenerative disorders, adult onset v1.100 SERAC1 Louise Daugherty Source Wessex and West Midlands GLH was added to SERAC1.
Neurodegenerative disorders, adult onset v1.100 SEPSECS Louise Daugherty Source Wessex and West Midlands GLH was added to SEPSECS.
Neurodegenerative disorders, adult onset v1.100 SCN8A Louise Daugherty Source Wessex and West Midlands GLH was added to SCN8A.
Neurodegenerative disorders, adult onset v1.100 SCN1A Louise Daugherty Source Wessex and West Midlands GLH was added to SCN1A.
Neurodegenerative disorders, adult onset v1.100 SAR1B Louise Daugherty Source Wessex and West Midlands GLH was added to SAR1B.
Neurodegenerative disorders, adult onset v1.100 SACS Louise Daugherty Source Wessex and West Midlands GLH was added to SACS.
Neurodegenerative disorders, adult onset v1.100 RTN2 Louise Daugherty Source Wessex and West Midlands GLH was added to RTN2.
Neurodegenerative disorders, adult onset v1.100 RNF216 Louise Daugherty Source Wessex and West Midlands GLH was added to RNF216.
Neurodegenerative disorders, adult onset v1.100 RNF170 Louise Daugherty Source Wessex and West Midlands GLH was added to RNF170.
Neurodegenerative disorders, adult onset v1.100 REEP1 Louise Daugherty Source Wessex and West Midlands GLH was added to REEP1.
Neurodegenerative disorders, adult onset v1.100 RARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to RARS2.
Neurodegenerative disorders, adult onset v1.100 RAB39B Louise Daugherty Source Wessex and West Midlands GLH was added to RAB39B.
Neurodegenerative disorders, adult onset v1.100 PSEN2 Louise Daugherty Source Wessex and West Midlands GLH was added to PSEN2.
Neurodegenerative disorders, adult onset v1.100 PSEN1 Louise Daugherty Source Wessex and West Midlands GLH was added to PSEN1.
Neurodegenerative disorders, adult onset v1.100 PRRT2 Louise Daugherty Source Wessex and West Midlands GLH was added to PRRT2.
Neurodegenerative disorders, adult onset v1.100 PRNP Louise Daugherty Source Wessex and West Midlands GLH was added to PRNP.
Neurodegenerative disorders, adult onset v1.100 PRKRA Louise Daugherty Source Wessex and West Midlands GLH was added to PRKRA.
Neurodegenerative disorders, adult onset v1.100 PRKN Louise Daugherty Source Wessex and West Midlands GLH was added to PRKN.
Neurodegenerative disorders, adult onset v1.100 PRKCG Louise Daugherty Source Wessex and West Midlands GLH was added to PRKCG.
Neurodegenerative disorders, adult onset v1.100 POLR3A Louise Daugherty Source Wessex and West Midlands GLH was added to POLR3A.
Neurodegenerative disorders, adult onset v1.100 POLG Louise Daugherty Source Wessex and West Midlands GLH was added to POLG.
Neurodegenerative disorders, adult onset v1.100 PNPLA6 Louise Daugherty Source Wessex and West Midlands GLH was added to PNPLA6.
Neurodegenerative disorders, adult onset v1.100 PNKP Louise Daugherty Source Wessex and West Midlands GLH was added to PNKP.
Neurodegenerative disorders, adult onset v1.100 PNKD Louise Daugherty Source Wessex and West Midlands GLH was added to PNKD.
Neurodegenerative disorders, adult onset v1.100 PMPCA Louise Daugherty Source Wessex and West Midlands GLH was added to PMPCA.
Neurodegenerative disorders, adult onset v1.100 PLP1 Louise Daugherty Source Wessex and West Midlands GLH was added to PLP1.
Neurodegenerative disorders, adult onset v1.100 PLA2G6 Louise Daugherty Source Wessex and West Midlands GLH was added to PLA2G6.
Neurodegenerative disorders, adult onset v1.100 PINK1 Louise Daugherty Source Wessex and West Midlands GLH was added to PINK1.
Neurodegenerative disorders, adult onset v1.100 PFN1 Louise Daugherty Source Wessex and West Midlands GLH was added to PFN1.
Neurodegenerative disorders, adult onset v1.100 PEX16 Louise Daugherty Source Wessex and West Midlands GLH was added to PEX16.
Neurodegenerative disorders, adult onset v1.100 PDYN Louise Daugherty Source Wessex and West Midlands GLH was added to PDYN.
Neurodegenerative disorders, adult onset v1.100 PAX6 Louise Daugherty Source Wessex and West Midlands GLH was added to PAX6.
Neurodegenerative disorders, adult onset v1.100 PARK7 Louise Daugherty Source Wessex and West Midlands GLH was added to PARK7.
Neurodegenerative disorders, adult onset v1.100 PANK2 Louise Daugherty Source Wessex and West Midlands GLH was added to PANK2.
Neurodegenerative disorders, adult onset v1.100 OPTN Louise Daugherty Source Wessex and West Midlands GLH was added to OPTN.
Neurodegenerative disorders, adult onset v1.100 OPHN1 Louise Daugherty Source Wessex and West Midlands GLH was added to OPHN1.
Neurodegenerative disorders, adult onset v1.100 OPA3 Louise Daugherty Source Wessex and West Midlands GLH was added to OPA3.
Neurodegenerative disorders, adult onset v1.100 NPC2 Louise Daugherty Source Wessex and West Midlands GLH was added to NPC2.
Neurodegenerative disorders, adult onset v1.100 NPC1 Louise Daugherty Source Wessex and West Midlands GLH was added to NPC1.
Neurodegenerative disorders, adult onset v1.100 NOTCH3 Louise Daugherty Source Wessex and West Midlands GLH was added to NOTCH3.
Neurodegenerative disorders, adult onset v1.100 NKX6-2 Louise Daugherty Source Wessex and West Midlands GLH was added to NKX6-2.
Neurodegenerative disorders, adult onset v1.100 NIPA1 Louise Daugherty Source Wessex and West Midlands GLH was added to NIPA1.
Neurodegenerative disorders, adult onset v1.100 NHLRC1 Louise Daugherty Source Wessex and West Midlands GLH was added to NHLRC1.
Neurodegenerative disorders, adult onset v1.100 MTTP Louise Daugherty Source Wessex and West Midlands GLH was added to MTTP.
Neurodegenerative disorders, adult onset v1.100 MT-ATP6 Louise Daugherty Source Wessex and West Midlands GLH was added to MT-ATP6.
Neurodegenerative disorders, adult onset v1.100 MRE11 Louise Daugherty Source Wessex and West Midlands GLH was added to MRE11.
Neurodegenerative disorders, adult onset v1.100 MMACHC Louise Daugherty Source Wessex and West Midlands GLH was added to MMACHC.
Neurodegenerative disorders, adult onset v1.100 MECR Louise Daugherty Source Wessex and West Midlands GLH was added to MECR.
Neurodegenerative disorders, adult onset v1.100 MARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to MARS2.
Neurodegenerative disorders, adult onset v1.100 MAPT Louise Daugherty Source Wessex and West Midlands GLH was added to MAPT.
Neurodegenerative disorders, adult onset v1.100 LYST Louise Daugherty Source Wessex and West Midlands GLH was added to LYST.
Neurodegenerative disorders, adult onset v1.100 LRRK2 Louise Daugherty Source Wessex and West Midlands GLH was added to LRRK2.
Neurodegenerative disorders, adult onset v1.100 L1CAM Louise Daugherty Source Wessex and West Midlands GLH was added to L1CAM.
Neurodegenerative disorders, adult onset v1.100 KMT2B Louise Daugherty Source Wessex and West Midlands GLH was added to KMT2B.
Neurodegenerative disorders, adult onset v1.100 KIF5A Louise Daugherty Source Wessex and West Midlands GLH was added to KIF5A.
Neurodegenerative disorders, adult onset v1.100 KIF1C Louise Daugherty Source Wessex and West Midlands GLH was added to KIF1C.
Neurodegenerative disorders, adult onset v1.100 KIF1A Louise Daugherty Source Wessex and West Midlands GLH was added to KIF1A.
Neurodegenerative disorders, adult onset v1.100 KIDINS220 Louise Daugherty Source Wessex and West Midlands GLH was added to KIDINS220.
Neurodegenerative disorders, adult onset v1.100 KCNQ3 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNQ3.
Neurodegenerative disorders, adult onset v1.100 KCNQ2 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNQ2.
Neurodegenerative disorders, adult onset v1.100 KCNJ10 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNJ10.
Neurodegenerative disorders, adult onset v1.100 KCND3 Louise Daugherty Source Wessex and West Midlands GLH was added to KCND3.
Neurodegenerative disorders, adult onset v1.100 KCNC3 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNC3.
Neurodegenerative disorders, adult onset v1.100 KCNA1 Louise Daugherty Source Wessex and West Midlands GLH was added to KCNA1.
Neurodegenerative disorders, adult onset v1.100 ITPR1 Louise Daugherty Source Wessex and West Midlands GLH was added to ITPR1.
Neurodegenerative disorders, adult onset v1.100 ITM2B Louise Daugherty Source Wessex and West Midlands GLH was added to ITM2B.
Neurodegenerative disorders, adult onset v1.100 HTRA2 Louise Daugherty Source Wessex and West Midlands GLH was added to HTRA2.
Neurodegenerative disorders, adult onset v1.100 HSPD1 Louise Daugherty Source Wessex and West Midlands GLH was added to HSPD1.
Neurodegenerative disorders, adult onset v1.100 HPCA Louise Daugherty Source Wessex and West Midlands GLH was added to HPCA.
Neurodegenerative disorders, adult onset v1.100 HNRNPA1 Louise Daugherty Source Wessex and West Midlands GLH was added to HNRNPA1.
Neurodegenerative disorders, adult onset v1.100 HEXB Louise Daugherty Source Wessex and West Midlands GLH was added to HEXB.
Neurodegenerative disorders, adult onset v1.100 HEXA Louise Daugherty Source Wessex and West Midlands GLH was added to HEXA.
Neurodegenerative disorders, adult onset v1.100 GRN Louise Daugherty Source Wessex and West Midlands GLH was added to GRN.
Neurodegenerative disorders, adult onset v1.100 GRM1 Louise Daugherty Source Wessex and West Midlands GLH was added to GRM1.
Neurodegenerative disorders, adult onset v1.100 GRID2 Louise Daugherty Source Wessex and West Midlands GLH was added to GRID2.
Neurodegenerative disorders, adult onset v1.100 GPAA1 Louise Daugherty Source Wessex and West Midlands GLH was added to GPAA1.
Neurodegenerative disorders, adult onset v1.100 GOSR2 Louise Daugherty Source Wessex and West Midlands GLH was added to GOSR2.
Neurodegenerative disorders, adult onset v1.100 GNAO1 Louise Daugherty Source Wessex and West Midlands GLH was added to GNAO1.
Neurodegenerative disorders, adult onset v1.100 GLRB Louise Daugherty Source Wessex and West Midlands GLH was added to GLRB.
Neurodegenerative disorders, adult onset v1.100 GLRA1 Louise Daugherty Source Wessex and West Midlands GLH was added to GLRA1.
Neurodegenerative disorders, adult onset v1.100 GJC2 Louise Daugherty Source Wessex and West Midlands GLH was added to GJC2.
Neurodegenerative disorders, adult onset v1.100 GFAP Louise Daugherty Source Wessex and West Midlands GLH was added to GFAP.
Neurodegenerative disorders, adult onset v1.100 GBA2 Louise Daugherty Source Wessex and West Midlands GLH was added to GBA2.
Neurodegenerative disorders, adult onset v1.100 GBA Louise Daugherty Source Wessex and West Midlands GLH was added to GBA.
Neurodegenerative disorders, adult onset v1.100 FXN Louise Daugherty Source Wessex and West Midlands GLH was added to FXN.
Neurodegenerative disorders, adult onset v1.100 FUS Louise Daugherty Source Wessex and West Midlands GLH was added to FUS.
Neurodegenerative disorders, adult onset v1.100 FTL Louise Daugherty Source Wessex and West Midlands GLH was added to FTL.
Neurodegenerative disorders, adult onset v1.100 FOLR1 Louise Daugherty Source Wessex and West Midlands GLH was added to FOLR1.
Neurodegenerative disorders, adult onset v1.100 FMR1 Louise Daugherty Source Wessex and West Midlands GLH was added to FMR1.
Neurodegenerative disorders, adult onset v1.100 FLVCR1 Louise Daugherty Source Wessex and West Midlands GLH was added to FLVCR1.
Neurodegenerative disorders, adult onset v1.100 FIG4 Louise Daugherty Source Wessex and West Midlands GLH was added to FIG4.
Neurodegenerative disorders, adult onset v1.100 FGF14 Louise Daugherty Source Wessex and West Midlands GLH was added to FGF14.
Neurodegenerative disorders, adult onset v1.100 FBXO7 Louise Daugherty Source Wessex and West Midlands GLH was added to FBXO7.
Neurodegenerative disorders, adult onset v1.100 FARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to FARS2.
Neurodegenerative disorders, adult onset v1.100 FA2H Louise Daugherty Source Wessex and West Midlands GLH was added to FA2H.
Neurodegenerative disorders, adult onset v1.100 EXOSC3 Louise Daugherty Source Wessex and West Midlands GLH was added to EXOSC3.
Neurodegenerative disorders, adult onset v1.100 ERLIN2 Louise Daugherty Source Wessex and West Midlands GLH was added to ERLIN2.
Neurodegenerative disorders, adult onset v1.100 EPM2A Louise Daugherty Source Wessex and West Midlands GLH was added to EPM2A.
Neurodegenerative disorders, adult onset v1.100 ELOVL4 Louise Daugherty Source Wessex and West Midlands GLH was added to ELOVL4.
Neurodegenerative disorders, adult onset v1.100 EIF2B5 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B5.
Neurodegenerative disorders, adult onset v1.100 EIF2B4 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B4.
Neurodegenerative disorders, adult onset v1.100 EIF2B3 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B3.
Neurodegenerative disorders, adult onset v1.100 EIF2B2 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B2.
Neurodegenerative disorders, adult onset v1.100 EIF2B1 Louise Daugherty Source Wessex and West Midlands GLH was added to EIF2B1.
Neurodegenerative disorders, adult onset v1.100 DNMT1 Louise Daugherty Source Wessex and West Midlands GLH was added to DNMT1.
Neurodegenerative disorders, adult onset v1.100 DNAJC6 Louise Daugherty Source Wessex and West Midlands GLH was added to DNAJC6.
Neurodegenerative disorders, adult onset v1.100 DNAJC5 Louise Daugherty Source Wessex and West Midlands GLH was added to DNAJC5.
Neurodegenerative disorders, adult onset v1.100 DNAJC19 Louise Daugherty Source Wessex and West Midlands GLH was added to DNAJC19.
Neurodegenerative disorders, adult onset v1.100 DDHD2 Louise Daugherty Source Wessex and West Midlands GLH was added to DDHD2.
Neurodegenerative disorders, adult onset v1.100 DDHD1 Louise Daugherty Source Wessex and West Midlands GLH was added to DDHD1.
Neurodegenerative disorders, adult onset v1.100 DCTN1 Louise Daugherty Source Wessex and West Midlands GLH was added to DCTN1.
Neurodegenerative disorders, adult onset v1.100 DCAF17 Louise Daugherty Source Wessex and West Midlands GLH was added to DCAF17.
Neurodegenerative disorders, adult onset v1.100 DARS2 Louise Daugherty Source Wessex and West Midlands GLH was added to DARS2.
Neurodegenerative disorders, adult onset v1.100 CYP7B1 Louise Daugherty Source Wessex and West Midlands GLH was added to CYP7B1.
Neurodegenerative disorders, adult onset v1.100 CYP2U1 Louise Daugherty Source Wessex and West Midlands GLH was added to CYP2U1.
Neurodegenerative disorders, adult onset v1.100 CYP27A1 Louise Daugherty Source Wessex and West Midlands GLH was added to CYP27A1.
Neurodegenerative disorders, adult onset v1.100 CWF19L1 Louise Daugherty Source Wessex and West Midlands GLH was added to CWF19L1.
Neurodegenerative disorders, adult onset v1.100 CSTB Louise Daugherty Source Wessex and West Midlands GLH was added to CSTB.
Neurodegenerative disorders, adult onset v1.100 CSF1R Louise Daugherty Source Wessex and West Midlands GLH was added to CSF1R.
Neurodegenerative disorders, adult onset v1.100 CP Louise Daugherty Source Wessex and West Midlands GLH was added to CP.
Neurodegenerative disorders, adult onset v1.100 COX20 Louise Daugherty Source Wessex and West Midlands GLH was added to COX20.
Neurodegenerative disorders, adult onset v1.100 COQ8A Louise Daugherty Source Wessex and West Midlands GLH was added to COQ8A.
Neurodegenerative disorders, adult onset v1.100 COASY Louise Daugherty Source Wessex and West Midlands GLH was added to COASY.
Neurodegenerative disorders, adult onset v1.100 CLN6 Louise Daugherty Source Wessex and West Midlands GLH was added to CLN6.
Neurodegenerative disorders, adult onset v1.100 CLCN2 Louise Daugherty Source Wessex and West Midlands GLH was added to CLCN2.
Neurodegenerative disorders, adult onset v1.100 CHMP2B Louise Daugherty Source Wessex and West Midlands GLH was added to CHMP2B.
Neurodegenerative disorders, adult onset v1.100 CHMP1A Louise Daugherty Source Wessex and West Midlands GLH was added to CHMP1A.
Neurodegenerative disorders, adult onset v1.100 CASK Louise Daugherty Source Wessex and West Midlands GLH was added to CASK.
Neurodegenerative disorders, adult onset v1.100 CAPN1 Louise Daugherty Source Wessex and West Midlands GLH was added to CAPN1.
Neurodegenerative disorders, adult onset v1.100 CAMTA1 Louise Daugherty Source Wessex and West Midlands GLH was added to CAMTA1.
Neurodegenerative disorders, adult onset v1.100 CACNB4 Louise Daugherty Source Wessex and West Midlands GLH was added to CACNB4.
Neurodegenerative disorders, adult onset v1.100 CACNA1G Louise Daugherty Source Wessex and West Midlands GLH was added to CACNA1G.
Neurodegenerative disorders, adult onset v1.100 CACNA1A Louise Daugherty Source Wessex and West Midlands GLH was added to CACNA1A.
Neurodegenerative disorders, adult onset v1.100 CA8 Louise Daugherty Source Wessex and West Midlands GLH was added to CA8.
Neurodegenerative disorders, adult onset v1.100 C19orf12 Louise Daugherty Source Wessex and West Midlands GLH was added to C19orf12.
Neurodegenerative disorders, adult onset v1.100 C12orf65 Louise Daugherty Source Wessex and West Midlands GLH was added to C12orf65.
Neurodegenerative disorders, adult onset v1.100 BSCL2 Louise Daugherty Source Wessex and West Midlands GLH was added to BSCL2.
Neurodegenerative disorders, adult onset v1.100 B4GALNT1 Louise Daugherty Source Wessex and West Midlands GLH was added to B4GALNT1.
Neurodegenerative disorders, adult onset v1.100 ATP7B Louise Daugherty Source Wessex and West Midlands GLH was added to ATP7B.
Neurodegenerative disorders, adult onset v1.100 ATP1A3 Louise Daugherty Source Wessex and West Midlands GLH was added to ATP1A3.
Neurodegenerative disorders, adult onset v1.100 ATP1A2 Louise Daugherty Source Wessex and West Midlands GLH was added to ATP1A2.
Neurodegenerative disorders, adult onset v1.100 ATP13A2 Louise Daugherty Source Wessex and West Midlands GLH was added to ATP13A2.
Neurodegenerative disorders, adult onset v1.100 ATM Louise Daugherty Source Wessex and West Midlands GLH was added to ATM.
Neurodegenerative disorders, adult onset v1.100 ATL1 Louise Daugherty Source Wessex and West Midlands GLH was added to ATL1.
Neurodegenerative disorders, adult onset v1.100 ATCAY Louise Daugherty Source Wessex and West Midlands GLH was added to ATCAY.
Neurodegenerative disorders, adult onset v1.100 ARSA Louise Daugherty Source Wessex and West Midlands GLH was added to ARSA.
Neurodegenerative disorders, adult onset v1.100 AR Louise Daugherty Source Wessex and West Midlands GLH was added to AR.
Neurodegenerative disorders, adult onset v1.100 APTX Louise Daugherty Source Wessex and West Midlands GLH was added to APTX.
Neurodegenerative disorders, adult onset v1.100 APP Louise Daugherty Source Wessex and West Midlands GLH was added to APP.
Neurodegenerative disorders, adult onset v1.100 AP4S1 Louise Daugherty Source Wessex and West Midlands GLH was added to AP4S1.
Neurodegenerative disorders, adult onset v1.100 AP4M1 Louise Daugherty Source Wessex and West Midlands GLH was added to AP4M1.
Neurodegenerative disorders, adult onset v1.100 AP4E1 Louise Daugherty Source Wessex and West Midlands GLH was added to AP4E1.
Neurodegenerative disorders, adult onset v1.100 AP4B1 Louise Daugherty Source Wessex and West Midlands GLH was added to AP4B1.
Neurodegenerative disorders, adult onset v1.100 AP1S2 Louise Daugherty Source Wessex and West Midlands GLH was added to AP1S2.
Neurodegenerative disorders, adult onset v1.100 ANO3 Louise Daugherty Source Wessex and West Midlands GLH was added to ANO3.
Neurodegenerative disorders, adult onset v1.100 ANO10 Louise Daugherty Source Wessex and West Midlands GLH was added to ANO10.
Neurodegenerative disorders, adult onset v1.100 ANG Louise Daugherty Source Wessex and West Midlands GLH was added to ANG.
Neurodegenerative disorders, adult onset v1.100 AMPD2 Louise Daugherty Source Wessex and West Midlands GLH was added to AMPD2.
Neurodegenerative disorders, adult onset v1.100 ALS2 Louise Daugherty Source Wessex and West Midlands GLH was added to ALS2.
Neurodegenerative disorders, adult onset v1.100 ALDH18A1 Louise Daugherty Source Wessex and West Midlands GLH was added to ALDH18A1.
Neurodegenerative disorders, adult onset v1.100 AIMP1 Louise Daugherty Source Wessex and West Midlands GLH was added to AIMP1.
Neurodegenerative disorders, adult onset v1.100 AFG3L2 Louise Daugherty Source Wessex and West Midlands GLH was added to AFG3L2.
Neurodegenerative disorders, adult onset v1.100 ADCY5 Louise Daugherty Source Wessex and West Midlands GLH was added to ADCY5.
Neurodegenerative disorders, adult onset v1.100 ADAR Louise Daugherty Source Wessex and West Midlands GLH was added to ADAR.
Neurodegenerative disorders, adult onset v1.100 ABHD12 Louise Daugherty Source Wessex and West Midlands GLH was added to ABHD12.
Neurodegenerative disorders, adult onset v1.100 ABCB7 Louise Daugherty Source Wessex and West Midlands GLH was added to ABCB7.
Neurodegenerative disorders, adult onset v1.100 AAAS Louise Daugherty Source Wessex and West Midlands GLH was added to AAAS.
Neurodegenerative disorders, adult onset v1.99 VAMP1 Tracy Lester reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 TAF1 Tracy Lester reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250, (NB complex mutation), Dystonia-Parkinsonism, X-linked, 314250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v1.99 REEP2 Tracy Lester reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant,615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 NEFH Tracy Lester reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: susceptibility to amyotrophic lateral sclerosis (ALS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 MVK Tracy Lester reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mevalonic aciduria 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 MAG Tracy Lester reviewed gene: MAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 KDM5C Tracy Lester reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v1.99 KCNK18 Tracy Lester reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; Mode of inheritance: Unknown
Neurodegenerative disorders, adult onset v1.99 IBA57 Tracy Lester reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 GNAL Tracy Lester reviewed gene: GNAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: adult-onset cranio-cervical dystonia, Dystonia 25, 615073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 GCH1 Tracy Lester reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dopa-Responsive Dystonia (DRD), progressive spastic paraplegia, Dystonia, Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 DMXL2 Tracy Lester reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sensorineural Hearing Loss, ORPHA90636, OMIM:612186; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 DARS Tracy Lester reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 COG5 Tracy Lester reviewed gene: COG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type IIi 613612; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 CIZ1 Tracy Lester reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: 22447717; Phenotypes: Dystonia 23, 614860; Mode of inheritance: Unknown
Neurodegenerative disorders, adult onset v1.99 CHCHD2 Tracy Lester reviewed gene: CHCHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 22, autosomal dominant, 616710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 CDK16 Tracy Lester reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders, adult onset v1.99 HACE1 Tracy Lester reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ERLIN1 Tracy Lester reviewed gene: ERLIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ARG1 Tracy Lester reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ABCD1 Tracy Lester reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v1.99 ZFYVE26 Tracy Lester reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 YY1 Tracy Lester reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gabriele-de Vries syndrome 617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 WWOX Tracy Lester reviewed gene: WWOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 12, 614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 WFS1 Tracy Lester reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 1, 222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 WDR81 Tracy Lester reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 WDR73 Tracy Lester reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature, Galloway-Mowat syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 WDR45B Tracy Lester reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 WDR45 Tracy Lester reviewed gene: WDR45: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, beta-propeller protein-associated neurodegeneration; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v1.99 WASHC5 Tracy Lester reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 VRK1 Tracy Lester reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 1A (#607596); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 VPS35 Tracy Lester reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 17, 614203, Parkinson Disease, Dominant, late onset parkinson disease, PARKINSON DISEASE 17, PARK17; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 VPS13D Tracy Lester reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 4, 607317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 VPS13A Tracy Lester reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: complex parkinsonism, Complex parkinsonism, 200150, Choreoacanthocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 VLDLR Tracy Lester reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 VCP Tracy Lester reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954, familial amyotrophic lateral sclerosis (ALS14), Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 VAPB Tracy Lester reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 8, 608627, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 VAC14 Tracy Lester reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Striatonigral degeneration, childhood-onset 617054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 UBQLN2 Tracy Lester reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v1.99 TYROBP Tracy Lester reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 TWNK Tracy Lester reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar Ataxia, Recessive, Ataxia Neuropathy Spectrum Disorders, Dominant, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286, Perrault syndrome 5, 616138, Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 TUBB4A Tracy Lester reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 6 612438, ?Dystonia 4, torsion, autosomal dominant, 128101, hypomyelinating leukodystrophy 6, Implicated autosomal dominant variants in two families with ataxia, Dystonia, Torsion dystonia 4 (128101) - some individuals with ataxia, ataxia, hereditary whispering dysphonia, Complex parkinsonism, hypomyelinating leukodystrophy 6 (612438) - ataxia reported., Dystonia 4, torsion, autosomal dominant 128101; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 TTPA Tracy Lester reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 TTC19 Tracy Lester reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 TTBK2 Tracy Lester reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 11; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 TSEN54 Tracy Lester reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 TSEN2 Tracy Lester reviewed gene: TSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2B, 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 TPP1 Tracy Lester reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, 204500, Spinocerebellar ataxia, autosomal recessive 7, 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 TOR1A Tracy Lester reviewed gene: TOR1A: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: primary torsion dystonia (DYT1), early-onset isolated dystonia, Dystonia-1, torsion, 128100, Autosomal dominant or sporadic dystonia (DYT1), Early-Onset Primary Dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 TMEM240 Tracy Lester reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 21, 607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 THAP1 Tracy Lester reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Dystonia 6, torsion, 602629, DYT6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 TH Tracy Lester reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Segawa syndrome, DOPA-responsive dystonia, infantile parkinsonism, Segawa syndrome, recessive, 605407, paediatric form of dopa responsive dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 TGM6 Tracy Lester reviewed gene: TGM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 35, 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 TBK1 Tracy Lester reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: FTLD, ALS, fronto-temporal dementia, Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 TARDBP Tracy Lester reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal Dementia, Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 SYNJ1 Tracy Lester reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 20, early-onset, 615530, Early Onset Complex Disease, juvenile Parkinsonism, Parkinson disease 20, early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SYNE1 Tracy Lester reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar Ataxia, Spinocerebellar ataxia, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 STUB1 Tracy Lester reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SRD5A3 Tracy Lester reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iq, 612379, Kahrizi syndrome, 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SPTBN2 Tracy Lester reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA 5 (autosomal dominant), Spinocerebellar ataxia 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 SPR Tracy Lester reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: paediatric form of dopa responsive dystonia, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716, Dopa-Responsive Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SPG7 Tracy Lester reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia, Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SPG21 Tracy Lester reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SPG11 Tracy Lester reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, Complex parkinsonism, hereditary spastic paraparesis, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SPAST Tracy Lester reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 SPART Tracy Lester reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SOD1 Tracy Lester reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 1, 105400, amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 SNX14 Tracy Lester reviewed gene: SNX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia (#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SNCA Tracy Lester reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4), Parkinson disease 4, 605543, Parkinson disease 1, 168601, Dementia, Lewy body, 127750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 SLC9A6 Tracy Lester reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: ; 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)
Neurodegenerative disorders, adult onset v1.99 SLC6A5 Tracy Lester reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SLC6A3 Tracy Lester reviewed gene: SLC6A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinsonism-dystonia, infantile, 613135, {Nicotine dependence, protection against}, 188890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SLC52A3 Tracy Lester reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Fazio-Londe disease, Brown-Vialetto-Van Laere syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 SLC52A2 Tracy Lester reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SLC39A14 Tracy Lester reviewed gene: SLC39A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypermanganesemia with dystonia 2 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SLC30A10 Tracy Lester reviewed gene: SLC30A10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia, Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease, Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280, Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUT1 DEFICIENCY SYNDROME 1, dystonia 9, GLUT1 deficiency syndrome 1, infantile onset, severe, EPILEPSY, IDIOPATHIC GENERALIZED, Dystonia, GLUT1 deficiency syndrome 2, childhood onset, GLUT1 deficiency syndrome 1, 606777, paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia, GLUT1 deficiency syndrome 1, GLUT1 deficiency syndrome 2, spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SLC25A46 Tracy Lester reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SLC1A4 Tracy Lester reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SLC1A3 Tracy Lester reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPISODIC ATAXIA, TYPE 6, Episodic ataxia, type 6,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 SLC16A2 Tracy Lester reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders, adult onset v1.99 SIL1 Tracy Lester reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SIGMAR1 Tracy Lester reviewed gene: SIGMAR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 16, juvenile, 614373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SGCE Tracy Lester reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Myoclonus dystonia syndrome, Myoclonus-Dystonia, maternally imprinted Dystonia-11, myoclonic, 159900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Neurodegenerative disorders, adult onset v1.99 SETX Tracy Lester reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile 602433, ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia, Ataxia-ocular apraxia-2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SERAC1 Tracy Lester reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739, 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome, MEGDEL syndrome, MEGDHEL syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SEPSECS Tracy Lester reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2D (613811); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SCN8A Tracy Lester reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Cognitive impairment with or without cerebellar ataxia, 614306, paroxysmal kinesigenic dyskinesias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 SCN1A Tracy Lester reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: several epilepsy, convulsion and migraine disorders., familial hemiplegic migraine 3, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 SAR1B Tracy Lester reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Chylomicron retention disease 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 SACS Tracy Lester reviewed gene: SACS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 RTN2 Tracy Lester reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 RNF216 Tracy Lester reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 RNF170 Tracy Lester reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, sensory, 1, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 REEP1 Tracy Lester reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 RARS2 Tracy Lester reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 RAB39B Tracy Lester reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset parkinsonism and intellectual disability, ?Waisman syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v1.99 PSEN2 Tracy Lester reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 PSEN1 Tracy Lester reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Acne inversa, familial, 3, 613737, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822, Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, Dystonia, Dementia, frontotemporal, 600274, Pick disease, 172700, Clinical syndrome Alzheimer disease, Alzheimer disease, type 3, 607822, Cardiomyopathy, dilated, 1U, 613694, Alzheimer disease, type 3, with spastic paraparesis and apraxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 PRRT2 Tracy Lester reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: dystonia and occasionally hemiplegic migraine and epilepsy, episodic kinesigenic dyskinesia, EPISODIC KINESIGENIC DYSKINESIA 1, CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS, Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions, SEIZURES, BENIGN FAMILIAL INFANTILE, 2, Episodic kinesigenic dyskinesia 1, 128200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 PRNP Tracy Lester reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Creutzfeldt-Jakob disease, Autosomal Dominant Ataxia, Insomnia, fatal familial, Huntington disease-like 1, Clinical syndrome Prion disease, Dementia, Gerstmann-Straussler disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 PRKRA Tracy Lester reviewed gene: PRKRA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa, Early-Onset Generalized Dystonia-Parkinsonism, Dystonia 16, Dystonia, Dystonia 16, 612067, early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 PRKN Tracy Lester reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease, juvenile, type 2, Dystonia, Parkinson Disease 2, Autosomal Recessive Juvenile, juvenile parkinsonism/dystonia, Parkinson Disease, Juvenile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 PRKCG Tracy Lester reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 POLR3A Tracy Lester reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal Recessive Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 POLG Tracy Lester reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 PNPLA6 Tracy Lester reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470), Spastic paraplegia 39, autosomal recessive, Oliver-McFarlane syndrome (#603197), Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 PNKP Tracy Lester reviewed gene: PNKP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with oculomotor apraxia 4 (#616267); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 PNKD Tracy Lester reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Paroxysmal Nonkinesigenic Dyskinesia, PAROXYSMAL NONKINESIGENIC DYSKINESIA 1, Paroxysmal nonkinesigenic dyskinesia, 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 PMPCA Tracy Lester reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 PLP1 Tracy Lester reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders, adult onset v1.99 PLA2G6 Tracy Lester reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Infantile neuroaxonal dystrophy 1, 256600, PLA2G6-associated neurodegeneration, Neurodegeneration with brain iron accumulation 2B, 610217, Infantile neuroaxonal dystrophy 1 (#256600), Neurodegeneration with brain iron accumulation 2B (#610217), Parkinson disease 14 (#612953), Parkinson disease 14, 612953, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 PINK1 Tracy Lester reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 6, early onset, 605909, Dystonia, Parkinson Disease 6, Autosomal Recessive Early-Onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 PFN1 Tracy Lester reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 18, 614808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 PEX16 Tracy Lester reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 PDYN Tracy Lester reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 23; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 PAX6 Tracy Lester reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aniridia, Cerebellar Ataxia, And Mental Retardation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 PARK7 Tracy Lester reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 7 autosomal recessive early-onset, 606324, Parkinson disease 7, autosomal recessive early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 PANK2 Tracy Lester reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Neurodegeneration with brain iron accumulation 1, 234200, Early Onset Complex Disease, pantothenate kinase-associated neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 OPTN Tracy Lester reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Glaucoma 1, open angle, E, 137760, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 OPHN1 Tracy Lester reviewed gene: OPHN1: Rating: RED; Mode of pathogenicity: ; Publications: ; 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)
Neurodegenerative disorders, adult onset v1.99 OPA3 Tracy Lester reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Costeff syndrome, 3-methylglutaconic aciduria, type III, 258501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 NPC2 Tracy Lester reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Niemann-Pick disease type C2 (#607625); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 NPC1 Tracy Lester reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease types C1 and D (#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 NOTCH3 Tracy Lester reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 NKX6-2 Tracy Lester reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 NIPA1 Tracy Lester reviewed gene: NIPA1: 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: ; Phenotypes: Spastic paraplegia 6, autosomal dominant, Spasticparaplegia6,autosomaldominant,600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 NHLRC1 Tracy Lester reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 MTTP Tracy Lester reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Abetalipoproteinemia, 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 MT-ATP6 Tracy Lester reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, Ataxia, and Retinitis Pigmentosa; Mode of inheritance: MITOCHONDRIAL
Neurodegenerative disorders, adult onset v1.99 MRE11 Tracy Lester reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-telangiectasia-like disorder, Ataxia-Telangiectasia-Like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 MMACHC Tracy Lester reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria, cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 MECR Tracy Lester reviewed gene: MECR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 MARS2 Tracy Lester reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 MAPT Tracy Lester reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia, frontotemporal, with or without parkinsonism, 600274, Tauopathy and r, Supranuclear palsy, progressive, 601104, clinical presentation suggestive of cortico-basal/PSP syndrome, PARKINSON-DEMENTIA SYNDROME, {Parkinson disease, susceptibility to}, 168600, Pick disease, 172700, Clinical syndrome FTLD (Frontotemporal lobar degeneration), Supranuclear palsy, progressive atypical, 260540; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 LYST Tracy Lester reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chediak-Higashi syndrome 214500, peripheral neuropathy, Parkinsonism, albinism, spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 LRRK2 Tracy Lester reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson Disease 8, Autosomal Dominant, Autosomal dominant Parkinson's disease, Parkinson Disease, Dominant, PARKINSON DISEASE 8, AUTOSOMAL DOMINANT, LRRK2 G2019S mutation, Parkinson disease 8, 607060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 L1CAM Tracy Lester reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders, adult onset v1.99 KMT2B Tracy Lester reviewed gene: KMT2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 KIF5A Tracy Lester reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 10, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 KIF1C Tracy Lester reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2,autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 KIF1A Tracy Lester reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 26410750; Phenotypes: Spastic paraplegia 30, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 KIDINS220 Tracy Lester reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 KCNQ3 Tracy Lester reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, benign neonatal, type 2, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 KCNQ2 Tracy Lester reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Myokymia, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 KCNJ10 Tracy Lester reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 KCND3 Tracy Lester reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia19,607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 KCNC3 Tracy Lester reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 KCNA1 Tracy Lester reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: myokymia with periodic ataxia, Episodic ataxia/myokymia syndrome,, EPISODIC ATAXIA, TYPE 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 ITPR1 Tracy Lester reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 29, Spinocerebellar ataxia 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 ITM2B Tracy Lester reviewed gene: ITM2B: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 210391242, 10781099; Phenotypes: Dementia, familial British, 176500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 HTRA2 Tracy Lester reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: 18364387, 15961413; Phenotypes: Parkinson Disease, Dominant, Parkinson disease 13, 610297, 3-methylglutaconic aciduria, type VIII 617248; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 HSPD1 Tracy Lester reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30564185, 25326637, 17420924, 18378094 ; Phenotypes: Spastic paraplegia 13, autosomal dominant 605280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 HPCA Tracy Lester reviewed gene: HPCA: Rating: RED; Mode of pathogenicity: ; Publications: 30145809, 25799108; Phenotypes: Dystonia 2, torsion, autosomal recessive, 224500, generalized dystonia with additional neurological features, adolescence-onset segmental dystonia, childhood-onset generalized dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 HNRNPA1 Tracy Lester reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 23455423, 29033165, 27694260 ; Phenotypes: ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia type 3 615424, ALS type 20 615426; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 HEXB Tracy Lester reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: 20798201; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 HEXA Tracy Lester reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 GRN Tracy Lester reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: clinical presentation suggestive of cortico-basal/PSP syndrome, Complex parkinsonism, Frontotemporal Dementia, frontotemporal lobar degeneration with TDP43 inclusions, Clinical syndrome FTLD (Frontotemporal lobar degeneration); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 GRM1 Tracy Lester reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 GRID2 Tracy Lester reviewed gene: GRID2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18, 616204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 GPAA1 Tracy Lester reviewed gene: GPAA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 GOSR2 Tracy Lester reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 GNAO1 Tracy Lester reviewed gene: GNAO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder with involuntary movements, 617493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 GLRB Tracy Lester reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 2, 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 GLRA1 Tracy Lester reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia, hereditary 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 GJC2 Tracy Lester reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 25059390; Phenotypes: Leukodystrophy, hypomyelinating, 2, Autosomal Recessive Ataxia, Spastic paraplegia 44, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 GFAP Tracy Lester reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal Dominant Ataxia, Alexander disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 GBA2 Tracy Lester reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 GBA Tracy Lester reviewed gene: GBA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Parkinson disease, late-onset, susceptibility to}, 168600, Gaucher disease, type I, 230800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 FXN Tracy Lester reviewed gene: FXN: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 FUS Tracy Lester reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia, Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 FTL Tracy Lester reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, movement disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 FOLR1 Tracy Lester reviewed gene: FOLR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 FMR1 Tracy Lester reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI), males with a tremor phenotype, FragileXtremor/ataxiasyndrome,300623; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v1.99 FLVCR1 Tracy Lester reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Posterior Column Ataxia with Retinitis Pigmentosa, Ataxia, posterior column, with retinitis pigmentosa,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 FIG4 Tracy Lester reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4J, 611228, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 FGF14 Tracy Lester reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 27; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 FBXO7 Tracy Lester reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson Disease, Recessive, Dystonia, juvenile parkinsonism, parkinsonian-pyramidal syndrome, Parkinson disease 15, autosomal recessive, 260300, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 FARS2 Tracy Lester reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 FA2H Tracy Lester reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, fatty acid hydroxylase-associated neurodegeneration, Spastic paraplegia 35, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 EXOSC3 Tracy Lester reviewed gene: EXOSC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1B, 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ERLIN2 Tracy Lester reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23085305, 27824013; Phenotypes: neurodegeneration, hereditary spastic paraplegia, Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 EPM2A Tracy Lester reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ELOVL4 Tracy Lester reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 34 133190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 EIF2B5 Tracy Lester reviewed gene: EIF2B5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 EIF2B4 Tracy Lester reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 EIF2B3 Tracy Lester reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 EIF2B2 Tracy Lester reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 EIF2B1 Tracy Lester reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 DNMT1 Tracy Lester reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia, Deafness, and Sensory Neuropathy, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 DNAJC6 Tracy Lester reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 19b, early-onset, Parkinson disease 19, juvenile-onset, 615528, Parkinson disease 19a, juvenile-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 DNAJC5 Tracy Lester reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 DNAJC19 Tracy Lester reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type V 610198, dilated cardiomyopathy with ataxia (DCMA) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 DDHD2 Tracy Lester reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132., Spastic paraplegia 54, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 DDHD1 Tracy Lester reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 DCTN1 Tracy Lester reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28625595, 24343258; Phenotypes: Neuropathy, distal hereditary motor, type VIIB, 607641, Perry syndrome, Neuropathy, distal hereditary motor, type VIIB, Perry syndrome, 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 DCAF17 Tracy Lester reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Woodhouse-Sakati syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 DARS2 Tracy Lester reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 CYP7B1 Tracy Lester reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 CYP2U1 Tracy Lester reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients., Spastic paraplegia 56, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 CYP27A1 Tracy Lester reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 CWF19L1 Tracy Lester reviewed gene: CWF19L1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, 616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 CSTB Tracy Lester reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A, 254800, Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800, microcephaly and severe dyskinesia (26843564); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 CSF1R Tracy Lester reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy, Dementia, diffuse leukoencephalopathy with spheroids; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 CP Tracy Lester reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Aceruloplasminemia, Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 COX20 Tracy Lester reviewed gene: COX20: Rating: AMBER; Mode of pathogenicity: ; Publications: 30656193; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 COQ8A Tracy Lester reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Coenzyme Q10 deficiency, primary 4, 612016, Spinocerebellar Ataxia Type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 COASY Tracy Lester reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COASY protein-associated neurodegeneration, Neurodegeneration with brain iron accumulation 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 CLN6 Tracy Lester reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 CLCN2 Tracy Lester reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: {Epilepsy, juvenile absence, susceptibility to, 2}, 607628, {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628, {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628, Leukoencephalopathy with ataxia, 615651; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 CHMP2B Tracy Lester reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: familial frontotemporal lobar degeneration (ALS17), Dystonia, Frontotemporal Dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, Dementia, familial, nonspecific, 600795, Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696, Amyotrophic lateral sclerosis 17, 614696; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 CHMP1A Tracy Lester reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 CASK Tracy Lester reviewed gene: CASK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome 4, 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v1.99 CAPN1 Tracy Lester reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 CAMTA1 Tracy Lester reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellarataxia, nonprogressive, with mental retardation, 614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 CACNB4 Tracy Lester reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9, EPISODIC ATAXIA, TYPE 5, Episodic Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 CACNA1G Tracy Lester reviewed gene: CACNA1G: 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: 28726809; Phenotypes: Spinocerebellar ataxia 42, 61679; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 CACNA1A Tracy Lester reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: episodic ataxia type 2 (EA2),108500, familial hemiplegic migraine type 1, 141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Dystonia, Spinocerebellar ataxia 6, Episodic ataxia, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 CA8 Tracy Lester reviewed gene: CA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 C19orf12 Tracy Lester reviewed gene: C19orf12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: mitochondrial membrane protein-associated neurodegeneration, Dystonia, neurodegeneration with brain iron accumulation-4, Neurodegeneration with brain iron accumulation 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 C12orf65 Tracy Lester reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia55,autosomalrecessive,615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 BSCL2 Tracy Lester reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome,; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 B4GALNT1 Tracy Lester reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ATP7B Tracy Lester reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilson disease 277900, Dystonia, Wilson Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ATP1A3 Tracy Lester reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820, CAPOS syndrome, DYSTONIA 12, 128235, Dystonia-12, alternating hemiplegia of childhood, Dystonia-12, 128235, Rapid-Onset Dystonia-Parkinsonism, rapid-onset dystonia-parkinsonism, Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338), Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 ATP1A2 Tracy Lester reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: ; Publications: 30690204; Phenotypes: Dystonia, alternating hemiplegia of childhood 104290, familial basilar migraine 602481, migraine, familial hemiplegic migraine type 2, 602481; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 ATP13A2 Tracy Lester reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 9, 606693, Dystonia, Kufor-Rakeb syndrome, Kufor-Rakeb Syndrome, Parkinson disease, Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ATM Tracy Lester reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Ataxia-Telangiectasia, Ataxia telangiectasia, Ataxia-telangiectasia,; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ATL1 Tracy Lester reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant,, Spastic Paraplegia, Dominant, Spastic paraplegia 3A, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 ATCAY Tracy Lester reviewed gene: ATCAY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, cerebellar, Cayman type, Cerebellar Ataxia, Cayman type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ARSA Tracy Lester reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic leukodystrophy (#250100), Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 AR Tracy Lester reviewed gene: AR: 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: ; Phenotypes: Spinal and bulbar muscular atrophy of Kennedy, 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Neurodegenerative disorders, adult onset v1.99 APTX Tracy Lester reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with Oculomotor Apraxia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 APP Tracy Lester reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Clinical syndrome Alzheimer disease, Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 AP4S1 Tracy Lester reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: developmental delay, seizures, Spastic paraplegia 52, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 AP4M1 Tracy Lester reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 AP4E1 Tracy Lester reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 AP4B1 Tracy Lester reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 AP1S2 Tracy Lester reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Mental retardation, X-linked syndromic 5, 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v1.99 ANO3 Tracy Lester reviewed gene: ANO3: Rating: RED; Mode of pathogenicity: ; Publications: 30502610, 28283962; Phenotypes: Dystonia 24, 615034, familial form of cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 ANO10 Tracy Lester reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ANG Tracy Lester reviewed gene: ANG: 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: ; Phenotypes: Amyotrophic lateral sclerosis 9, 611895, Amyotrophic Lateral Sclerosis, Dominant, familial amyotrophic lateral sclerosis (ALS9); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Neurodegenerative disorders, adult onset v1.99 AMPD2 Tracy Lester reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014)., Hereditary Spastic Paraplegia?, Pontocerebellar hypoplasia 9 (#615809), Pontocerebellar hypolplasia (biallelic); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ALS2 Tracy Lester reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Primary lateral sclerosis, juvenile, 606353, Spastic paralysis, infantile onset ascending, 607225, Amyotrophic lateral sclerosis 2, juvenile, 205100, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ALDH18A1 Tracy Lester reviewed gene: ALDH18A1: 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: ; Phenotypes: Spastic paraplegia 9A, autosomal dominant, ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3, SPG9; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 AIMP1 Tracy Lester reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 3, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 AFG3L2 Tracy Lester reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive, Dystonia, Spastic ataxia 5, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ADCY5 Tracy Lester reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: dystonia, Familial dyskinesia 606703, Dyskinesia, familial, with facial myokymia, 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Neurodegenerative disorders, adult onset v1.99 ADAR Tracy Lester reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010, dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ABHD12 Tracy Lester reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC), Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.99 ABCB7 Tracy Lester reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia,, Sideroblastic Anemia and Ataxia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v1.99 AAAS Tracy Lester reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, 231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 NLRP1 Catherine Snow gene: NLRP1 was added
gene: NLRP1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: NLRP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 NLRP3 Catherine Snow gene: NLRP3 was added
gene: NLRP3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 LYST Catherine Snow gene: LYST was added
gene: LYST was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 GGCX Catherine Snow gene: GGCX was added
gene: GGCX was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ABCC6 Catherine Snow gene: ABCC6 was added
gene: ABCC6 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ABCC6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 GALNT3 Catherine Snow gene: GALNT3 was added
gene: GALNT3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 FOXC2 Catherine Snow gene: FOXC2 was added
gene: FOXC2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FOXC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 FMO3 Catherine Snow gene: FMO3 was added
gene: FMO3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 FLT4 Catherine Snow gene: FLT4 was added
gene: FLT4 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FLT4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 FGF23 Catherine Snow gene: FGF23 was added
gene: FGF23 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 FBLN5 Catherine Snow gene: FBLN5 was added
gene: FBLN5 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FBLN5 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 EFEMP2 Catherine Snow gene: EFEMP2 was added
gene: EFEMP2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ELN Catherine Snow gene: ELN was added
gene: ELN was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ELN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 EGFR Catherine Snow gene: EGFR was added
gene: EGFR was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 COL5A2 Catherine Snow gene: COL5A2 was added
gene: COL5A2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL5A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 COL5A1 Catherine Snow gene: COL5A1 was added
gene: COL5A1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 COL4A5 Catherine Snow gene: COL4A5 was added
gene: COL4A5 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL4A5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Rare genetic inflammatory skin disorders v0.13 COL4A4 Catherine Snow gene: COL4A4 was added
gene: COL4A4 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 COL4A3 Catherine Snow gene: COL4A3 was added
gene: COL4A3 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 COL3A1 Catherine Snow gene: COL3A1 was added
gene: COL3A1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 COL1A2 Catherine Snow gene: COL1A2 was added
gene: COL1A2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 COL1A1 Catherine Snow gene: COL1A1 was added
gene: COL1A1 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: COL1A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare genetic inflammatory skin disorders v0.13 ATP7B Catherine Snow gene: ATP7B was added
gene: ATP7B was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ATP7A Catherine Snow gene: ATP7A was added
gene: ATP7A was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Rare genetic inflammatory skin disorders v0.13 ATP6V0A2 Catherine Snow gene: ATP6V0A2 was added
gene: ATP6V0A2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ANTXR2 Catherine Snow gene: ANTXR2 was added
gene: ANTXR2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 AIRE Catherine Snow gene: AIRE was added
gene: AIRE was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: AIRE was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 AGPAT2 Catherine Snow gene: AGPAT2 was added
gene: AGPAT2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: AGPAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Rare genetic inflammatory skin disorders v0.13 ADAMTS2 Catherine Snow gene: ADAMTS2 was added
gene: ADAMTS2 was added to Rare genetic inflammatory skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal
Mosaic skin disorders - Deep sequencing v0.12 ATP2A2 Catherine Snow gene: ATP2A2 was added
gene: ATP2A2 was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Amber
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular skin disorders v0.12 PPOX Catherine Snow gene: PPOX was added
gene: PPOX was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular skin disorders v0.12 FECH Catherine Snow gene: FECH was added
gene: FECH was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: FECH was set to BIALLELIC, autosomal or pseudoautosomal
Vascular skin disorders v0.12 CPOX Catherine Snow gene: CPOX was added
gene: CPOX was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Vascular skin disorders v0.12 CPO Catherine Snow gene: CPO was added
gene: CPO was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: CPO was set to
Vascular skin disorders v0.12 AP3B1 Catherine Snow gene: AP3B1 was added
gene: AP3B1 was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: AP3B1 was set to BIALLELIC, autosomal or pseudoautosomal
Vascular skin disorders v0.12 ADAMTS13 Catherine Snow gene: ADAMTS13 was added
gene: ADAMTS13 was added to Vascular skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.11 MLPH Catherine Snow gene: MLPH was added
gene: MLPH was added to Pigmentary skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: MLPH was set to BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders v0.11 IL31RA Catherine Snow gene: IL31RA was added
gene: IL31RA was added to Pigmentary skin disorders. Sources: Expert Review Amber
Mode of inheritance for gene: IL31RA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermodysplasia verruciformis v0.8 IL7 Catherine Snow gene: IL7 was added
gene: IL7 was added to Epidermodysplasia verruciformis. Sources: Expert Review Amber
Mode of inheritance for gene: IL7 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermodysplasia verruciformis v0.8 CORO1A Catherine Snow gene: CORO1A was added
gene: CORO1A was added to Epidermodysplasia verruciformis. Sources: Expert Review Amber
Mode of inheritance for gene: CORO1A was set to BIALLELIC, autosomal or pseudoautosomal
Epidermodysplasia verruciformis v0.8 MST1 Catherine Snow gene: MST1 was added
gene: MST1 was added to Epidermodysplasia verruciformis. Sources: Expert Review Amber
Mode of inheritance for gene: MST1 was set to
Epidermodysplasia verruciformis v0.8 RHOH Catherine Snow gene: RHOH was added
gene: RHOH was added to Epidermodysplasia verruciformis. Sources: Expert Review Amber
Mode of inheritance for gene: RHOH was set to BIALLELIC, autosomal or pseudoautosomal
Palmoplantar keratodermas v0.8 STK11 Catherine Snow gene: STK11 was added
gene: STK11 was added to Palmoplantar keratodermas. Sources: Expert Review Amber
Mode of inheritance for gene: STK11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v0.9 SPINK5 Catherine Snow gene: SPINK5 was added
gene: SPINK5 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 PIGL Catherine Snow gene: PIGL was added
gene: PIGL was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 FLG2 Catherine Snow gene: FLG2 was added
gene: FLG2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 CLDN1 Catherine Snow gene: CLDN1 was added
gene: CLDN1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: CLDN1 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 FLG Catherine Snow gene: FLG was added
gene: FLG was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: FLG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v0.9 LOR Catherine Snow gene: LOR was added
gene: LOR was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: LOR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ichthyosis and erythrokeratoderma v0.9 MSMO1 Catherine Snow gene: MSMO1 was added
gene: MSMO1 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Ichthyosis and erythrokeratoderma v0.9 KRT2 Catherine Snow gene: KRT2 was added
gene: KRT2 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Amber
Mode of inheritance for gene: KRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v0.14 SPINK5 Catherine Snow gene: SPINK5 was added
gene: SPINK5 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 CTSB Catherine Snow gene: CTSB was added
gene: CTSB was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: CTSB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v0.14 FLG2 Catherine Snow gene: FLG2 was added
gene: FLG2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: FLG2 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 EGFR Catherine Snow gene: EGFR was added
gene: EGFR was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: EGFR was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 ATP2C1 Catherine Snow gene: ATP2C1 was added
gene: ATP2C1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: ATP2C1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v0.14 ATP2A2 Catherine Snow gene: ATP2A2 was added
gene: ATP2A2 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Epidermolysis bullosa and congenital skin fragility v0.14 DSG1 Catherine Snow gene: DSG1 was added
gene: DSG1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 SLC39A7 Catherine Snow gene: SLC39A7 was added
gene: SLC39A7 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: SLC39A7 was set to
Epidermolysis bullosa and congenital skin fragility v0.14 SLC39A4 Catherine Snow gene: SLC39A4 was added
gene: SLC39A4 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 IKBKG Catherine Snow gene: IKBKG was added
gene: IKBKG was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Epidermolysis bullosa and congenital skin fragility v0.14 KRT10 Catherine Snow Source Expert Review Amber was added to KRT10.
Mode of inheritance for gene KRT10 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.14 KRT1 Catherine Snow Source Expert Review Amber was added to KRT1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.14 PLOD3 Catherine Snow gene: PLOD3 was added
gene: PLOD3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal
Epidermolysis bullosa and congenital skin fragility v0.14 CD151 Catherine Snow Source Expert Review Amber was added to CD151.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.14 DSG3 Catherine Snow Source Expert Review Amber was added to DSG3.
Mode of inheritance for gene DSG3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Epidermolysis bullosa and congenital skin fragility v0.14 DSC3 Catherine Snow gene: DSC3 was added
gene: DSC3 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber
Mode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.15 KRT83 Catherine Snow gene: KRT83 was added
gene: KRT83 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: KRT83 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v0.15 KRT81 Catherine Snow gene: KRT81 was added
gene: KRT81 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: KRT81 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v0.15 KRT71 Catherine Snow Source Expert Review Amber was added to KRT71.
Mode of inheritance for gene KRT71 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ectodermal dysplasia v0.15 RSPO4 Catherine Snow gene: RSPO4 was added
gene: RSPO4 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: RSPO4 was set to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.15 KRT25 Catherine Snow gene: KRT25 was added
gene: KRT25 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: KRT25 was set to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.15 GRHL2 Catherine Snow gene: GRHL2 was added
gene: GRHL2 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: GRHL2 was set to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.15 GJB2 Catherine Snow Source Expert Review Amber was added to GJB2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Ectodermal dysplasia v0.15 DHX30 Catherine Snow gene: DHX30 was added
gene: DHX30 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: DHX30 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v0.15 DHX40 Catherine Snow gene: DHX40 was added
gene: DHX40 was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: DHX40 was set to
Ectodermal dysplasia v0.15 CREBBP Catherine Snow gene: CREBBP was added
gene: CREBBP was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ectodermal dysplasia v0.15 WNT7A Catherine Snow gene: WNT7A was added
gene: WNT7A was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: WNT7A was set to BIALLELIC, autosomal or pseudoautosomal
Ectodermal dysplasia v0.15 AR Catherine Snow gene: AR was added
gene: AR was added to Ectodermal dysplasia. Sources: Expert Review Amber
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Paroxysmal central nervous system disorders v0.28 ISCA-37468-Loss Rebecca Foulger changed review comment from: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Symbol submitted: ISCA-37468-Loss; Suggested initial gene rating: Red; Evidence: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.; to: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London), collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. Symbol submitted: ISCA-37468-Loss; Suggested initial gene rating: Red; Evidence: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Paroxysmal central nervous system disorders v0.28 ISCA-37468-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37468-Loss was changed from to None.
Source London North GLH was removed from Region: ISCA-37468-Loss.
Source NHS GMS was added to Region: ISCA-37468-Loss.
Model of inheritance for Region: ISCA-37468-Loss was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Paroxysmal central nervous system disorders v0.27 ISCA-37468-Loss Rebecca Foulger reviewed Region: ISCA-37468-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Paroxysmal central nervous system disorders v0.27 TBP Rebecca Foulger Source NHS GMS was added to TBP.
Paroxysmal central nervous system disorders v0.27 CSTB Rebecca Foulger Source NHS GMS was added to CSTB.
Paroxysmal central nervous system disorders v0.27 VAMP2 Rebecca Foulger Source NHS GMS was added to VAMP2.
Paroxysmal central nervous system disorders v0.27 PDE2A Rebecca Foulger Source NHS GMS was added to PDE2A.
Paroxysmal central nervous system disorders v0.27 PDE10A Rebecca Foulger Source NHS GMS was added to PDE10A.
Paroxysmal central nervous system disorders v0.27 WNK1 Rebecca Foulger Source NHS GMS was added to WNK1.
Paroxysmal central nervous system disorders v0.27 UBR4 Rebecca Foulger Source NHS GMS was added to UBR4.
Paroxysmal central nervous system disorders v0.27 TTR Rebecca Foulger Source NHS GMS was added to TTR.
Paroxysmal central nervous system disorders v0.27 TRPV4 Rebecca Foulger Source NHS GMS was added to TRPV4.
Paroxysmal central nervous system disorders v0.27 TRPA1 Rebecca Foulger Source NHS GMS was added to TRPA1.
Paroxysmal central nervous system disorders v0.27 SPTLC2 Rebecca Foulger Source NHS GMS was added to SPTLC2.
Paroxysmal central nervous system disorders v0.27 SPTLC1 Rebecca Foulger Source NHS GMS was added to SPTLC1.
Paroxysmal central nervous system disorders v0.27 SLC6A4 Rebecca Foulger Source NHS GMS was added to SLC6A4.
Paroxysmal central nervous system disorders v0.27 SEPT9 Rebecca Foulger Source NHS GMS was added to SEPT9.
Paroxysmal central nervous system disorders v0.27 SCN9A Rebecca Foulger Source NHS GMS was added to SCN9A.
Paroxysmal central nervous system disorders v0.27 SCN4A Rebecca Foulger Source NHS GMS was added to SCN4A.
Paroxysmal central nervous system disorders v0.27 SCN11A Rebecca Foulger Source NHS GMS was added to SCN11A.
Paroxysmal central nervous system disorders v0.27 SCN10A Rebecca Foulger Source NHS GMS was added to SCN10A.
Paroxysmal central nervous system disorders v0.27 RYR1 Rebecca Foulger Source NHS GMS was added to RYR1.
Paroxysmal central nervous system disorders v0.27 RETREG1 Rebecca Foulger Source NHS GMS was added to RETREG1.
Paroxysmal central nervous system disorders v0.27 RAB7A Rebecca Foulger Source NHS GMS was added to RAB7A.
Paroxysmal central nervous system disorders v0.27 PYGM Rebecca Foulger Source NHS GMS was added to PYGM.
Paroxysmal central nervous system disorders v0.27 PRNP Rebecca Foulger Source NHS GMS was added to PRNP.
Paroxysmal central nervous system disorders v0.27 PRDM12 Rebecca Foulger Source NHS GMS was added to PRDM12.
Paroxysmal central nervous system disorders v0.27 PER2 Rebecca Foulger Source NHS GMS was added to PER2.
Paroxysmal central nervous system disorders v0.27 NTRK2 Rebecca Foulger Source NHS GMS was added to NTRK2.
Paroxysmal central nervous system disorders v0.27 NTRK1 Rebecca Foulger Source NHS GMS was added to NTRK1.
Paroxysmal central nervous system disorders v0.27 NGF Rebecca Foulger Source NHS GMS was added to NGF.
Paroxysmal central nervous system disorders v0.27 NAGLU Rebecca Foulger Source NHS GMS was added to NAGLU.
Paroxysmal central nervous system disorders v0.27 MT-ATP8 Rebecca Foulger Source NHS GMS was added to MT-ATP8.
Paroxysmal central nervous system disorders v0.27 MT-ATP6 Rebecca Foulger Source NHS GMS was added to MT-ATP6.
Paroxysmal central nervous system disorders v0.27 MPV17 Rebecca Foulger Source NHS GMS was added to MPV17.
Paroxysmal central nervous system disorders v0.27 KIF1A Rebecca Foulger Source NHS GMS was added to KIF1A.
Paroxysmal central nervous system disorders v0.27 KCNJ2 Rebecca Foulger Source NHS GMS was added to KCNJ2.
Paroxysmal central nervous system disorders v0.27 KCNJ18 Rebecca Foulger Source NHS GMS was added to KCNJ18.
Paroxysmal central nervous system disorders v0.27 HTT Rebecca Foulger Source NHS GMS was added to HTT.
Paroxysmal central nervous system disorders v0.27 HSPG2 Rebecca Foulger Source NHS GMS was added to HSPG2.
Paroxysmal central nervous system disorders v0.27 HLA-DQB1 Rebecca Foulger Source NHS GMS was added to HLA-DQB1.
Paroxysmal central nervous system disorders v0.27 HCRT Rebecca Foulger Source NHS GMS was added to HCRT.
Paroxysmal central nervous system disorders v0.27 GLA Rebecca Foulger Source NHS GMS was added to GLA.
Paroxysmal central nervous system disorders v0.27 EXT1 Rebecca Foulger Source NHS GMS was added to EXT1.
Paroxysmal central nervous system disorders v0.27 ELP1 Rebecca Foulger Source NHS GMS was added to ELP1.
Paroxysmal central nervous system disorders v0.27 EIF3G Rebecca Foulger Source NHS GMS was added to EIF3G.
Paroxysmal central nervous system disorders v0.27 DMPK Rebecca Foulger Source NHS GMS was added to DMPK.
Paroxysmal central nervous system disorders v0.27 CNBP Rebecca Foulger Source NHS GMS was added to CNBP.
Paroxysmal central nervous system disorders v0.27 CLTCL1 Rebecca Foulger Source NHS GMS was added to CLTCL1.
Paroxysmal central nervous system disorders v0.27 CLCN1 Rebecca Foulger Source NHS GMS was added to CLCN1.
Paroxysmal central nervous system disorders v0.27 CCT5 Rebecca Foulger Source NHS GMS was added to CCT5.
Paroxysmal central nervous system disorders v0.27 CACNA1S Rebecca Foulger Source NHS GMS was added to CACNA1S.
Paroxysmal central nervous system disorders v0.27 ATP7B Rebecca Foulger Source NHS GMS was added to ATP7B.
Paroxysmal central nervous system disorders v0.27 ATP2A1 Rebecca Foulger Source NHS GMS was added to ATP2A1.
Paroxysmal central nervous system disorders v0.27 ATN1 Rebecca Foulger Source NHS GMS was added to ATN1.
Paroxysmal central nervous system disorders v0.27 ATL3 Rebecca Foulger Source NHS GMS was added to ATL3.
Paroxysmal central nervous system disorders v0.27 ATL1 Rebecca Foulger Source NHS GMS was added to ATL1.
Paroxysmal central nervous system disorders v0.27 AKR1C2 Rebecca Foulger Source NHS GMS was added to AKR1C2.
Paroxysmal central nervous system disorders v0.27 SPR Rebecca Foulger Source NHS GMS was added to SPR.
Paroxysmal central nervous system disorders v0.27 SLC6A5 Rebecca Foulger Source NHS GMS was added to SLC6A5.
Paroxysmal central nervous system disorders v0.27 SCN8A Rebecca Foulger Source NHS GMS was added to SCN8A.
Paroxysmal central nervous system disorders v0.27 NKX2-1 Rebecca Foulger Source NHS GMS was added to NKX2-1.
Paroxysmal central nervous system disorders v0.27 MOG Rebecca Foulger Source NHS GMS was added to MOG.
Paroxysmal central nervous system disorders v0.27 KCNQ3 Rebecca Foulger Source NHS GMS was added to KCNQ3.
Paroxysmal central nervous system disorders v0.27 KCNQ2 Rebecca Foulger Source NHS GMS was added to KCNQ2.
Paroxysmal central nervous system disorders v0.27 KCNK18 Rebecca Foulger Source NHS GMS was added to KCNK18.
Paroxysmal central nervous system disorders v0.27 KCNJ5 Rebecca Foulger Source NHS GMS was added to KCNJ5.
Paroxysmal central nervous system disorders v0.27 GLRB Rebecca Foulger Source NHS GMS was added to GLRB.
Paroxysmal central nervous system disorders v0.27 GLRA1 Rebecca Foulger Source NHS GMS was added to GLRA1.
Paroxysmal central nervous system disorders v0.27 CACNB4 Rebecca Foulger Source NHS GMS was added to CACNB4.
Paroxysmal central nervous system disorders v0.27 ATAD1 Rebecca Foulger Source NHS GMS was added to ATAD1.
Paroxysmal central nervous system disorders v0.27 SLC2A1 Rebecca Foulger Source NHS GMS was added to SLC2A1.
Paroxysmal central nervous system disorders v0.27 SLC1A3 Rebecca Foulger Source NHS GMS was added to SLC1A3.
Paroxysmal central nervous system disorders v0.27 SCN1A Rebecca Foulger Source NHS GMS was added to SCN1A.
Paroxysmal central nervous system disorders v0.27 PRRT2 Rebecca Foulger Source NHS GMS was added to PRRT2.
Paroxysmal central nervous system disorders v0.27 PNKD Rebecca Foulger Source NHS GMS was added to PNKD.
Paroxysmal central nervous system disorders v0.27 KCNMA1 Rebecca Foulger Source NHS GMS was added to KCNMA1.
Paroxysmal central nervous system disorders v0.27 KCNA1 Rebecca Foulger Source NHS GMS was added to KCNA1.
Paroxysmal central nervous system disorders v0.27 DNMT1 Rebecca Foulger Source NHS GMS was added to DNMT1.
Paroxysmal central nervous system disorders v0.27 CSNK1D Rebecca Foulger Source NHS GMS was added to CSNK1D.
Paroxysmal central nervous system disorders v0.27 CACNA1A Rebecca Foulger Source NHS GMS was added to CACNA1A.
Paroxysmal central nervous system disorders v0.27 ATP1A3 Rebecca Foulger Source NHS GMS was added to ATP1A3.
Paroxysmal central nervous system disorders v0.27 ATP1A2 Rebecca Foulger Source NHS GMS was added to ATP1A2.
Paroxysmal central nervous system disorders v0.27 ADCY5 Rebecca Foulger Source NHS GMS was added to ADCY5.
Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.92 MTOR Louise Daugherty Mode of inheritance for gene: MTOR was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Clefting v1.58 EIF4A3 Louise Daugherty Mode of inheritance for gene: EIF4A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1022 DLG4 Louise Daugherty Mode of inheritance for gene: DLG4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.26 WNK1 Rebecca Foulger commented on gene: WNK1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 TTR Rebecca Foulger commented on gene: TTR: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 TRPV4 Rebecca Foulger commented on gene: TRPV4: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 TRPA1 Rebecca Foulger commented on gene: TRPA1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 TBP Rebecca Foulger reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 SPTLC2 Rebecca Foulger commented on gene: SPTLC2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SPTLC1 Rebecca Foulger commented on gene: SPTLC1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SPR Rebecca Foulger commented on gene: SPR: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SLC6A4 Rebecca Foulger commented on gene: SLC6A4: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SEPT9 Rebecca Foulger commented on gene: SEPT9: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN9A Rebecca Foulger commented on gene: SCN9A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN8A Rebecca Foulger commented on gene: SCN8A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN4A Rebecca Foulger commented on gene: SCN4A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN11A Rebecca Foulger commented on gene: SCN11A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN10A Rebecca Foulger commented on gene: SCN10A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 RYR1 Rebecca Foulger commented on gene: RYR1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 RETREG1 Rebecca Foulger commented on gene: RETREG1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 RAB7A Rebecca Foulger commented on gene: RAB7A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PYGM Rebecca Foulger commented on gene: PYGM: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PRNP Rebecca Foulger commented on gene: PRNP: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PRDM12 Rebecca Foulger commented on gene: PRDM12: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PER2 Rebecca Foulger commented on gene: PER2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NTRK2 Rebecca Foulger commented on gene: NTRK2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NTRK1 Rebecca Foulger commented on gene: NTRK1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NKX2-1 Rebecca Foulger commented on gene: NKX2-1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NGF Rebecca Foulger commented on gene: NGF: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 NAGLU Rebecca Foulger commented on gene: NAGLU: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 MT-ATP8 Rebecca Foulger commented on gene: MT-ATP8: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 MT-ATP6 Rebecca Foulger commented on gene: MT-ATP6: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 MPV17 Rebecca Foulger commented on gene: MPV17: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KIF1A Rebecca Foulger commented on gene: KIF1A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNQ3 Rebecca Foulger commented on gene: KCNQ3: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNK18 Rebecca Foulger commented on gene: KCNK18: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNJ5 Rebecca Foulger commented on gene: KCNJ5: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNJ2 Rebecca Foulger commented on gene: KCNJ2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNJ18 Rebecca Foulger commented on gene: KCNJ18: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 HTT Rebecca Foulger commented on gene: HTT: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 HSPG2 Rebecca Foulger commented on gene: HSPG2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 HLA-DQB1 Rebecca Foulger commented on gene: HLA-DQB1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 HCRT Rebecca Foulger commented on gene: HCRT: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 GLA Rebecca Foulger commented on gene: GLA: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 EXT1 Rebecca Foulger commented on gene: EXT1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ELP1 Rebecca Foulger commented on gene: ELP1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 EIF3G Rebecca Foulger commented on gene: EIF3G: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 DMPK Rebecca Foulger commented on gene: DMPK: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CSTB Rebecca Foulger reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 CNBP Rebecca Foulger commented on gene: CNBP: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CLTCL1 Rebecca Foulger commented on gene: CLTCL1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CLCN1 Rebecca Foulger commented on gene: CLCN1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CCT5 Rebecca Foulger commented on gene: CCT5: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CACNA1S Rebecca Foulger commented on gene: CACNA1S: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATP7B Rebecca Foulger commented on gene: ATP7B: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATP2A1 Rebecca Foulger commented on gene: ATP2A1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATN1 Rebecca Foulger commented on gene: ATN1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATL3 Rebecca Foulger commented on gene: ATL3: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATL1 Rebecca Foulger commented on gene: ATL1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 AKR1C2 Rebecca Foulger commented on gene: AKR1C2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 VAMP2 Rebecca Foulger reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 SLC6A5 Rebecca Foulger commented on gene: SLC6A5: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SLC2A1 Rebecca Foulger commented on gene: SLC2A1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SLC1A3 Rebecca Foulger commented on gene: SLC1A3: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 SCN1A Rebecca Foulger commented on gene: SCN1A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PRRT2 Rebecca Foulger commented on gene: PRRT2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PNKD Rebecca Foulger commented on gene: PNKD: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 PDE2A Rebecca Foulger reviewed gene: PDE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 PDE10A Rebecca Foulger reviewed gene: PDE10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.26 MOG Rebecca Foulger commented on gene: MOG: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNQ2 Rebecca Foulger commented on gene: KCNQ2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 KCNA1 Rebecca Foulger commented on gene: KCNA1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 GLRB Rebecca Foulger commented on gene: GLRB: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 GLRA1 Rebecca Foulger commented on gene: GLRA1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 DNMT1 Rebecca Foulger commented on gene: DNMT1: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CSNK1D Rebecca Foulger commented on gene: CSNK1D: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CACNB4 Rebecca Foulger commented on gene: CACNB4: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 CACNA1A Rebecca Foulger commented on gene: CACNA1A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATP1A3 Rebecca Foulger commented on gene: ATP1A3: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ATP1A2 Rebecca Foulger commented on gene: ATP1A2: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.26 ADCY5 Rebecca Foulger commented on gene: ADCY5: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Paroxysmal central nervous system disorders v0.25 WNK1 James Polke reviewed gene: WNK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 TTR James Polke reviewed gene: TTR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 TRPV4 James Polke reviewed gene: TRPV4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 TRPA1 James Polke reviewed gene: TRPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 TBP James Polke reviewed gene: TBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SPTLC2 James Polke reviewed gene: SPTLC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SPTLC1 James Polke reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SPR James Polke reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SLC6A4 James Polke reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SEPT9 James Polke reviewed gene: SEPT9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN9A James Polke reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN8A James Polke reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN4A James Polke reviewed gene: SCN4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN11A James Polke reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN10A James Polke reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 RYR1 James Polke reviewed gene: RYR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 RETREG1 James Polke reviewed gene: RETREG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 RAB7A James Polke reviewed gene: RAB7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PYGM James Polke reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PRNP James Polke reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PRDM12 James Polke reviewed gene: PRDM12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PER2 James Polke reviewed gene: PER2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NTRK2 James Polke reviewed gene: NTRK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NTRK1 James Polke reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NKX2-1 James Polke reviewed gene: NKX2-1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NGF James Polke reviewed gene: NGF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 NAGLU James Polke reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 MT-ATP8 James Polke reviewed gene: MT-ATP8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 MT-ATP6 James Polke reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 MPV17 James Polke reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KIF1A James Polke reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNQ3 James Polke reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNK18 James Polke reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNJ5 James Polke reviewed gene: KCNJ5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNJ2 James Polke reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNJ18 James Polke reviewed gene: KCNJ18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 HTT James Polke reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 HSPG2 James Polke reviewed gene: HSPG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 HLA-DQB1 James Polke reviewed gene: HLA-DQB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 HCRT James Polke reviewed gene: HCRT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 GLA James Polke reviewed gene: GLA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 EXT1 James Polke reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ELP1 James Polke reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 EIF3G James Polke reviewed gene: EIF3G: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 DMPK James Polke reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CSTB James Polke reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CNBP James Polke reviewed gene: CNBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CLTCL1 James Polke reviewed gene: CLTCL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CLCN1 James Polke reviewed gene: CLCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CCT5 James Polke reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CACNA1S James Polke reviewed gene: CACNA1S: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATP7B James Polke reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATP2A1 James Polke reviewed gene: ATP2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATN1 James Polke reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATL3 James Polke reviewed gene: ATL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATL1 James Polke reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 AKR1C2 James Polke reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 VAMP2 James Polke reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SLC6A5 James Polke reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SLC2A1 James Polke reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SLC1A3 James Polke reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 SCN1A James Polke reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PRRT2 James Polke reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PNKD James Polke reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PDE2A James Polke reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 PDE10A James Polke reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 MOG James Polke reviewed gene: MOG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNQ2 James Polke reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 KCNA1 James Polke reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 GLRB James Polke reviewed gene: GLRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 GLRA1 James Polke reviewed gene: GLRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 DNMT1 James Polke reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CSNK1D James Polke reviewed gene: CSNK1D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CACNB4 James Polke reviewed gene: CACNB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 CACNA1A James Polke reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATP1A3 James Polke reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ATP1A2 James Polke reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.25 ADCY5 James Polke reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.24 WNK1 Rebecca Foulger Source London North GLH was added to WNK1.
Paroxysmal central nervous system disorders v0.24 TTR Rebecca Foulger Source London North GLH was added to TTR.
Paroxysmal central nervous system disorders v0.24 TRPV4 Rebecca Foulger Source London North GLH was added to TRPV4.
Paroxysmal central nervous system disorders v0.24 TRPA1 Rebecca Foulger Source London North GLH was added to TRPA1.
Paroxysmal central nervous system disorders v0.24 TBP Rebecca Foulger gene: TBP was added
gene: TBP was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red,London North GLH
Mode of inheritance for gene: TBP was set to
Paroxysmal central nervous system disorders v0.24 SPTLC2 Rebecca Foulger Source London North GLH was added to SPTLC2.
Paroxysmal central nervous system disorders v0.24 SPTLC1 Rebecca Foulger Source London North GLH was added to SPTLC1.
Paroxysmal central nervous system disorders v0.24 SPR Rebecca Foulger Source London North GLH was added to SPR.
Paroxysmal central nervous system disorders v0.24 SLC6A4 Rebecca Foulger Source London North GLH was added to SLC6A4.
Paroxysmal central nervous system disorders v0.24 SEPT9 Rebecca Foulger Source London North GLH was added to SEPT9.
Paroxysmal central nervous system disorders v0.24 SCN9A Rebecca Foulger Source London North GLH was added to SCN9A.
Paroxysmal central nervous system disorders v0.24 SCN8A Rebecca Foulger Source London North GLH was added to SCN8A.
Paroxysmal central nervous system disorders v0.24 SCN4A Rebecca Foulger Source London North GLH was added to SCN4A.
Paroxysmal central nervous system disorders v0.24 SCN11A Rebecca Foulger Source London North GLH was added to SCN11A.
Paroxysmal central nervous system disorders v0.24 SCN10A Rebecca Foulger Source London North GLH was added to SCN10A.
Paroxysmal central nervous system disorders v0.24 RYR1 Rebecca Foulger Source London North GLH was added to RYR1.
Paroxysmal central nervous system disorders v0.24 RETREG1 Rebecca Foulger Source London North GLH was added to RETREG1.
Paroxysmal central nervous system disorders v0.24 RAB7A Rebecca Foulger Source London North GLH was added to RAB7A.
Paroxysmal central nervous system disorders v0.24 PYGM Rebecca Foulger Source London North GLH was added to PYGM.
Paroxysmal central nervous system disorders v0.24 PRNP Rebecca Foulger Source London North GLH was added to PRNP.
Paroxysmal central nervous system disorders v0.24 PRDM12 Rebecca Foulger Source London North GLH was added to PRDM12.
Paroxysmal central nervous system disorders v0.24 PER2 Rebecca Foulger Source London North GLH was added to PER2.
Paroxysmal central nervous system disorders v0.24 NTRK2 Rebecca Foulger Source London North GLH was added to NTRK2.
Paroxysmal central nervous system disorders v0.24 NTRK1 Rebecca Foulger Source London North GLH was added to NTRK1.
Paroxysmal central nervous system disorders v0.24 NKX2-1 Rebecca Foulger Source London North GLH was added to NKX2-1.
Paroxysmal central nervous system disorders v0.24 NGF Rebecca Foulger Source London North GLH was added to NGF.
Paroxysmal central nervous system disorders v0.24 NAGLU Rebecca Foulger Source London North GLH was added to NAGLU.
Paroxysmal central nervous system disorders v0.24 MT-ATP8 Rebecca Foulger Source London North GLH was added to MT-ATP8.
Paroxysmal central nervous system disorders v0.24 MT-ATP6 Rebecca Foulger Source London North GLH was added to MT-ATP6.
Paroxysmal central nervous system disorders v0.24 MPV17 Rebecca Foulger Source London North GLH was added to MPV17.
Paroxysmal central nervous system disorders v0.24 KIF1A Rebecca Foulger Source London North GLH was added to KIF1A.
Paroxysmal central nervous system disorders v0.24 KCNQ3 Rebecca Foulger Source London North GLH was added to KCNQ3.
Paroxysmal central nervous system disorders v0.24 KCNK18 Rebecca Foulger Source London North GLH was added to KCNK18.
Paroxysmal central nervous system disorders v0.24 KCNJ5 Rebecca Foulger Source London North GLH was added to KCNJ5.
Paroxysmal central nervous system disorders v0.24 KCNJ2 Rebecca Foulger Source London North GLH was added to KCNJ2.
Paroxysmal central nervous system disorders v0.24 KCNJ18 Rebecca Foulger Source London North GLH was added to KCNJ18.
Paroxysmal central nervous system disorders v0.24 ISCA-37468-Loss Rebecca Foulger Source London North GLH was added to Region: ISCA-37468-Loss.
Paroxysmal central nervous system disorders v0.24 HTT Rebecca Foulger Source London North GLH was added to HTT.
Paroxysmal central nervous system disorders v0.24 HSPG2 Rebecca Foulger Source London North GLH was added to HSPG2.
Paroxysmal central nervous system disorders v0.24 HLA-DQB1 Rebecca Foulger Source London North GLH was added to HLA-DQB1.
Paroxysmal central nervous system disorders v0.24 HCRT Rebecca Foulger Source London North GLH was added to HCRT.
Paroxysmal central nervous system disorders v0.24 GLA Rebecca Foulger Source London North GLH was added to GLA.
Paroxysmal central nervous system disorders v0.24 EXT1 Rebecca Foulger Source London North GLH was added to EXT1.
Paroxysmal central nervous system disorders v0.24 ELP1 Rebecca Foulger Source London North GLH was added to ELP1.
Paroxysmal central nervous system disorders v0.24 EIF3G Rebecca Foulger Source London North GLH was added to EIF3G.
Paroxysmal central nervous system disorders v0.24 DMPK Rebecca Foulger Source London North GLH was added to DMPK.
Paroxysmal central nervous system disorders v0.24 CSTB Rebecca Foulger gene: CSTB was added
gene: CSTB was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red,London North GLH
Mode of inheritance for gene: CSTB was set to
Paroxysmal central nervous system disorders v0.24 CNBP Rebecca Foulger Source London North GLH was added to CNBP.
Paroxysmal central nervous system disorders v0.24 CLTCL1 Rebecca Foulger Source London North GLH was added to CLTCL1.
Paroxysmal central nervous system disorders v0.24 CLCN1 Rebecca Foulger Source London North GLH was added to CLCN1.
Paroxysmal central nervous system disorders v0.24 CCT5 Rebecca Foulger Source London North GLH was added to CCT5.
Paroxysmal central nervous system disorders v0.24 CACNA1S Rebecca Foulger Source London North GLH was added to CACNA1S.
Paroxysmal central nervous system disorders v0.24 ATP7B Rebecca Foulger Source London North GLH was added to ATP7B.
Paroxysmal central nervous system disorders v0.24 ATP2A1 Rebecca Foulger Source London North GLH was added to ATP2A1.
Paroxysmal central nervous system disorders v0.24 ATN1 Rebecca Foulger Source London North GLH was added to ATN1.
Paroxysmal central nervous system disorders v0.24 ATL3 Rebecca Foulger Source London North GLH was added to ATL3.
Paroxysmal central nervous system disorders v0.24 ATL1 Rebecca Foulger Source London North GLH was added to ATL1.
Paroxysmal central nervous system disorders v0.24 AKR1C2 Rebecca Foulger Source London North GLH was added to AKR1C2.
Paroxysmal central nervous system disorders v0.24 VAMP2 Rebecca Foulger gene: VAMP2 was added
gene: VAMP2 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH
Mode of inheritance for gene: VAMP2 was set to
Paroxysmal central nervous system disorders v0.24 SLC6A5 Rebecca Foulger Source London North GLH was added to SLC6A5.
Paroxysmal central nervous system disorders v0.24 SLC2A1 Rebecca Foulger Source London North GLH was added to SLC2A1.
Paroxysmal central nervous system disorders v0.24 SLC1A3 Rebecca Foulger Source London North GLH was added to SLC1A3.
Paroxysmal central nervous system disorders v0.24 SCN1A Rebecca Foulger Source London North GLH was added to SCN1A.
Paroxysmal central nervous system disorders v0.24 PRRT2 Rebecca Foulger Source London North GLH was added to PRRT2.
Paroxysmal central nervous system disorders v0.24 PNKD Rebecca Foulger Source London North GLH was added to PNKD.
Paroxysmal central nervous system disorders v0.24 PDE2A Rebecca Foulger gene: PDE2A was added
gene: PDE2A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH
Mode of inheritance for gene: PDE2A was set to
Paroxysmal central nervous system disorders v0.24 PDE10A Rebecca Foulger gene: PDE10A was added
gene: PDE10A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,London North GLH
Mode of inheritance for gene: PDE10A was set to
Paroxysmal central nervous system disorders v0.24 MOG Rebecca Foulger Source London North GLH was added to MOG.
Paroxysmal central nervous system disorders v0.24 KCNQ2 Rebecca Foulger Source London North GLH was added to KCNQ2.
Paroxysmal central nervous system disorders v0.24 KCNA1 Rebecca Foulger Source London North GLH was added to KCNA1.
Paroxysmal central nervous system disorders v0.24 GLRB Rebecca Foulger Source London North GLH was added to GLRB.
Paroxysmal central nervous system disorders v0.24 GLRA1 Rebecca Foulger Source London North GLH was added to GLRA1.
Paroxysmal central nervous system disorders v0.24 DNMT1 Rebecca Foulger Source London North GLH was added to DNMT1.
Paroxysmal central nervous system disorders v0.24 CSNK1D Rebecca Foulger Source London North GLH was added to CSNK1D.
Paroxysmal central nervous system disorders v0.24 CACNB4 Rebecca Foulger Source London North GLH was added to CACNB4.
Paroxysmal central nervous system disorders v0.24 CACNA1A Rebecca Foulger Source London North GLH was added to CACNA1A.
Paroxysmal central nervous system disorders v0.24 ATP1A3 Rebecca Foulger Source London North GLH was added to ATP1A3.
Paroxysmal central nervous system disorders v0.24 ATP1A2 Rebecca Foulger Source London North GLH was added to ATP1A2.
Paroxysmal central nervous system disorders v0.24 ADCY5 Rebecca Foulger Source London North GLH was added to ADCY5.
Renal tubulopathies v1.82 UMOD Eleanor Williams commented on gene: UMOD: Associated with Glomerulocystic kidney disease with hyperuricemia and isosthenuria #609886, Hyperuricemic nephropathy, familial juvenile 1 #162000 and Medullary cystic kidney disease 2 #603860 in OMIM.

Many cases reported in OMIM.
Renal tubulopathies v1.82 WNK1 Eleanor Williams commented on gene: WNK1: Associated with Pseudohypoaldosteronism, type IIC (#614492) in OMIM,

PMID: 11498583 - Wilson et al - 2001 - in one large family with 10 members affected by pseudohypoaldosteronism type II they identified a 41-kb deletion in intron 1 of WNK1 that segregated with the disease. In another family previously described by Disse-Nicodeme et al. (2000), they identified a 22-kb deletion within intron 1 of WNK1. Functional studies showed this deletion increased the expression of WNK1.
Paroxysmal central nervous system disorders v0.23 WNK1 Rebecca Foulger reviewed gene: WNK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 UBR4 Rebecca Foulger reviewed gene: UBR4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 TTR Rebecca Foulger reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 TRPV4 Rebecca Foulger reviewed gene: TRPV4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 TRPA1 Rebecca Foulger reviewed gene: TRPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SPTLC2 Rebecca Foulger reviewed gene: SPTLC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SPTLC1 Rebecca Foulger reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SLC6A4 Rebecca Foulger reviewed gene: SLC6A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SEPT9 Rebecca Foulger reviewed gene: SEPT9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN9A Rebecca Foulger reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN4A Rebecca Foulger reviewed gene: SCN4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN11A Rebecca Foulger reviewed gene: SCN11A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN10A Rebecca Foulger reviewed gene: SCN10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 RYR1 Rebecca Foulger reviewed gene: RYR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 RETREG1 Rebecca Foulger reviewed gene: RETREG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 RAB7A Rebecca Foulger reviewed gene: RAB7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PYGM Rebecca Foulger reviewed gene: PYGM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PRNP Rebecca Foulger reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PRDM12 Rebecca Foulger reviewed gene: PRDM12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PER2 Rebecca Foulger reviewed gene: PER2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NTRK2 Rebecca Foulger reviewed gene: NTRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NTRK1 Rebecca Foulger reviewed gene: NTRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NGF Rebecca Foulger reviewed gene: NGF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NAGLU Rebecca Foulger reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 MT-ATP8 Rebecca Foulger reviewed gene: MT-ATP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 MT-ATP6 Rebecca Foulger reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 MPV17 Rebecca Foulger reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KIF1A Rebecca Foulger reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNJ2 Rebecca Foulger reviewed gene: KCNJ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNJ18 Rebecca Foulger reviewed gene: KCNJ18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 HTT Rebecca Foulger reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 HSPG2 Rebecca Foulger reviewed gene: HSPG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 HLA-DQB1 Rebecca Foulger reviewed gene: HLA-DQB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 HCRT Rebecca Foulger reviewed gene: HCRT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 GLA Rebecca Foulger reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 EXT1 Rebecca Foulger reviewed gene: EXT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ELP1 Rebecca Foulger reviewed gene: ELP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 EIF3G Rebecca Foulger reviewed gene: EIF3G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 DMPK Rebecca Foulger reviewed gene: DMPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CNBP Rebecca Foulger reviewed gene: CNBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CLTCL1 Rebecca Foulger reviewed gene: CLTCL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CLCN1 Rebecca Foulger reviewed gene: CLCN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CCT5 Rebecca Foulger reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CACNA1S Rebecca Foulger reviewed gene: CACNA1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATP7B Rebecca Foulger reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATP2A1 Rebecca Foulger reviewed gene: ATP2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATN1 Rebecca Foulger reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATL3 Rebecca Foulger reviewed gene: ATL3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATL1 Rebecca Foulger reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 AKR1C2 Rebecca Foulger reviewed gene: AKR1C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SPR Rebecca Foulger reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SLC6A5 Rebecca Foulger reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN8A Rebecca Foulger reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 NKX2-1 Rebecca Foulger reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 MOG Rebecca Foulger reviewed gene: MOG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNQ3 Rebecca Foulger reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNQ2 Rebecca Foulger reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNK18 Rebecca Foulger reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNJ5 Rebecca Foulger reviewed gene: KCNJ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 GLRB Rebecca Foulger reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 GLRA1 Rebecca Foulger reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CACNB4 Rebecca Foulger reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATAD1 Rebecca Foulger reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SLC2A1 Rebecca Foulger reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SLC1A3 Rebecca Foulger reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 SCN1A Rebecca Foulger reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PRRT2 Rebecca Foulger reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 PNKD Rebecca Foulger reviewed gene: PNKD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNMA1 Rebecca Foulger reviewed gene: KCNMA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 KCNA1 Rebecca Foulger reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 DNMT1 Rebecca Foulger reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CSNK1D Rebecca Foulger reviewed gene: CSNK1D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 CACNA1A Rebecca Foulger reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATP1A3 Rebecca Foulger reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ATP1A2 Rebecca Foulger reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.23 ADCY5 Rebecca Foulger reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Paroxysmal central nervous system disorders v0.22 WNK1 Tracy Lester reviewed gene: WNK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type II, 201300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 UBR4 Tracy Lester reviewed gene: UBR4: Rating: RED; Mode of pathogenicity: ; Publications: 23982692; Phenotypes: Episodic ataxia, type 8, 616055; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 TTR Tracy Lester reviewed gene: TTR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Carpal tunnel syndrome, familial, 115430, Amyloidosis, hereditary, transthyretin-related, 105210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 TRPV4 Tracy Lester reviewed gene: TRPV4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary motor and sensory neuropathy, type IIc, 606071, [also many others]; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 TRPA1 Tracy Lester reviewed gene: TRPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic pain syndrome, familial, 1, 615040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SPTLC2 Tracy Lester reviewed gene: SPTLC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IC, 613640; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SPTLC1 Tracy Lester reviewed gene: SPTLC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: HSAN 1, Neuropathy, hereditary sensory and autonomic, type IA, 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SLC6A4 Tracy Lester reviewed gene: SLC6A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Anxiety-related personality traits} 607834, {Obsessive-compulsive disorder} 164230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SEPT9 Tracy Lester reviewed gene: SEPT9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Amyotrophy, hereditary neuralgic, 162100, Hereditary neuralgic amyotrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SCN9A Tracy Lester reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal extreme pain disorder, 167400, Erythermalgia, primary, AD, 133020, Small fiber neuropathy,133020, Febrile seizures, familial, 3B, 613863, Epilepsy, generalized, with febrile seizures plus, type 7, 613863, Insensitivity to pain, congenital, 243000, HSAN2D, autosomal recessive, AR, 243000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 SCN4A Tracy Lester reviewed gene: SCN4A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thyrotoxic Periodic Paralysis, Susceptibility To, 2, Hypokalemic periodic paralysis, type 2, 613, Potassium-Aggravated Myotonia, Hyperkalemic periodic paralysis, type 2, 170500, Myasthenic syndrome, acetazolamide-responsive, 614198, Hyperkalemic Periodic Paralysis, Episodic weakness, Myotonia, Hypokalemic Periodic Paralysis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SCN11A Tracy Lester reviewed gene: SCN11A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic pain syndrome, familial, 3, 615552, Neuropathy, hereditary sensory and autonomic, type VII, 615548; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 SCN10A Tracy Lester reviewed gene: SCN10A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic pain syndrome, familial, 2, 615551; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 RYR1 Tracy Lester reviewed gene: RYR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Central core disease of muscle, 117000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 RETREG1 Tracy Lester reviewed gene: RETREG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IIB, 613115; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 RAB7A Tracy Lester reviewed gene: RAB7A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2B, 600882; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 PYGM Tracy Lester reviewed gene: PYGM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: McArdle disease, 232600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 PRNP Tracy Lester reviewed gene: PRNP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral amyloid angiopathy, PRNP-related, 137440; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 PRDM12 Tracy Lester reviewed gene: PRDM12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type VIII, 616488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 PER2 Tracy Lester reviewed gene: PER2: Rating: RED; Mode of pathogenicity: ; Publications: 11232563; Phenotypes: Advanced sleep phase syndrome, familial, 1, 604348; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 NTRK2 Tracy Lester reviewed gene: NTRK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 58, 617830, Obesity, hyperphagia, and developmental delay, 613886; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 NTRK1 Tracy Lester reviewed gene: NTRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Insensitivity to pain, congenital, with anhidrosis (Hereditary sensory and autonomic neuropathy IV), 256800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 NGF Tracy Lester reviewed gene: NGF: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type V, 608654; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 NAGLU Tracy Lester reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B), AR, 252920, Charcot-Marie-Tooth disease, axonal, type 2V, 616491; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 MT-ATP8 Tracy Lester reviewed gene: MT-ATP8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL
Paroxysmal central nervous system disorders v0.22 MT-ATP6 Tracy Lester reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, ataxia, and retinitis pigmentosa, 551500; Mode of inheritance: MITOCHONDRIAL
Paroxysmal central nervous system disorders v0.22 MPV17 Tracy Lester reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 KIF1A Tracy Lester reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, type IIC, 614213, Spastic paraplegia 30, autosomal recessive, 610357; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 KCNJ2 Tracy Lester reviewed gene: KCNJ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Andersen cardiodysrhythmic periodic paralysis (Andersen syndrome), 170390; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNJ18 Tracy Lester reviewed gene: KCNJ18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Thyrotoxic periodic paralysis, susceptibility to, 2, 613239; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 HTT Tracy Lester reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease, 143100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 HSPG2 Tracy Lester reviewed gene: HSPG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Schwartz-Jampel syndrome, type 1, 255800, Dyssegmental dysplasia, Silverman-Handmaker type, 224410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 HLA-DQB1 Tracy Lester reviewed gene: HLA-DQB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Kleine-Levin hibernation syndrome, 148840; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 HCRT Tracy Lester reviewed gene: HCRT: Rating: RED; Mode of pathogenicity: ; Publications: 10973318; Phenotypes: ?Narcolepsy 1, 161400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 GLA Tracy Lester reviewed gene: GLA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fabry disease, 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Paroxysmal central nervous system disorders v0.22 EXT1 Tracy Lester reviewed gene: EXT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ELP1 Tracy Lester reviewed gene: ELP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, Hereditary Sensory and Autonomic, Type III (also known as Dysautonomia, familial), 223900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 EIF3G Tracy Lester reviewed gene: EIF3G: Rating: RED; Mode of pathogenicity: ; Publications: 25669430; Phenotypes: Narcolepsy; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 DMPK Tracy Lester reviewed gene: DMPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MYOTONIC DYSTROPHY 1 (DM1), Myotonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 CNBP Tracy Lester reviewed gene: CNBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myotonia, MYOTONIC DYSTROPHY 2 (DM2); Mode of inheritance: Other - please specifiy in evaluation comments
Paroxysmal central nervous system disorders v0.22 CLTCL1 Tracy Lester reviewed gene: CLTCL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital insensitivity to pain; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 CLCN1 Tracy Lester reviewed gene: CLCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Myotonia congenita, recessive, 255700, Myotonia congenita, dominant, 160800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 CCT5 Tracy Lester reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, 256840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 CACNA1S Tracy Lester reviewed gene: CACNA1S: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypokalemic periodic paralysis, type 1, 170400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ATP7B Tracy Lester reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wilson disease, 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 ATP2A1 Tracy Lester reviewed gene: ATP2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brody myopathy, 601003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 ATN1 Tracy Lester reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dentatorubro-pallidoluysian atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ATL3 Tracy Lester reviewed gene: ATL3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, type IF, 615632; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ATL1 Tracy Lester reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant, 182600, Neuropathy, hereditary sensory, type ID, 613708; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 AKR1C2 Tracy Lester reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Obesity, hyperphagia, and developmental delay; Mode of inheritance: Unknown
Paroxysmal central nervous system disorders v0.22 SPR Tracy Lester reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 SLC6A5 Tracy Lester reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 SCN8A Tracy Lester reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 13, 614558, Seizures, benign familial infantile, 5, 617080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 NKX2-1 Tracy Lester reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24555207, 12196653; Phenotypes: Chorea, hereditary benign, 118700, Choreoathetosis, hypothyroidism, and neonatal respiratory distress, 610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 MOG Tracy Lester reviewed gene: MOG: Rating: AMBER; Mode of pathogenicity: ; Publications: 21907016; Phenotypes: Narcolepsy 7, 614250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNQ3 Tracy Lester reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, benign neonatal, type 2, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNQ2 Tracy Lester reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Myokymia, 121200, Seizures, benign neonatal, 1, 121200, Epileptic encephalopathy, early infantile, 7, 613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNK18 Tracy Lester reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: 20871611, 22355750; Phenotypes: Migraine, with or without aura, susceptibility to, 13, 613656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNJ5 Tracy Lester reviewed gene: KCNJ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperaldosteronism, familial, type III, 613677, Long QT syndrome 13, 613485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 GLRB Tracy Lester reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 2, 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 GLRA1 Tracy Lester reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 CACNB4 Tracy Lester reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, 613855; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 ATAD1 Tracy Lester reviewed gene: ATAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 4, 618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Paroxysmal central nervous system disorders v0.22 SLC2A1 Tracy Lester reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: GLUT1 deficiency syndrome 1, infantile onset, severe, 606777, GLUT1 deficiency syndrome 2, childhood onset, 612126, Dystonia 9 (paroxysmal choreoathetosis with episodic ataxia), 601042; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 SLC1A3 Tracy Lester reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 6, 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 SCN1A Tracy Lester reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208, Epilepsy, generalized, with febrile seizures plus, type 2, 604403, Migraine, familial hemiplegic, 3, 609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 PRRT2 Tracy Lester reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066, Episodic kinesigenic dyskinesia 1, 128200, Seizures, benign familial infantile, 2, 605751; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 PNKD Tracy Lester reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNMA1 Tracy Lester reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 KCNA1 Tracy Lester reviewed gene: KCNA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic Ataxia, type 1 (Episodic ataxia/myokymia syndrome), 160120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 DNMT1 Tracy Lester reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121, Neuropathy, hereditary sensory, type IE, 614116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 CSNK1D Tracy Lester reviewed gene: CSNK1D: Rating: GREEN; Mode of pathogenicity: ; Publications: 25660813, 23636092, 15800623; Phenotypes: Advanced sleep-phase syndrome, familial, 2, 615224; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 CACNA1A Tracy Lester reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500, Migraine, familial hemiplegic, 1, 141500, Episodic Ataxia, type 2, 108500, Epileptic encephalopathy, early infantile, 42, 617106, Spinocerebellar ataxia 6, 183086; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 ATP1A3 Tracy Lester reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia-12, 128235, Alternating hemiplegia of childhood 2, 614820, CAPOS syndrome, 601338; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Paroxysmal central nervous system disorders v0.22 ATP1A2 Tracy Lester reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Migraine, familial basilar, 602481, Migraine, familial hemiplegic, 2, 602481, alternating hemiplegia of childhood 1, 104290; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.22 ADCY5 Tracy Lester reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskinesia, familial, with facial myokymia, 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Paroxysmal central nervous system disorders v0.21 WNK1 Rebecca Foulger Source Wessex and West Midlands GLH was added to WNK1.
Paroxysmal central nervous system disorders v0.21 UBR4 Rebecca Foulger gene: UBR4 was added
gene: UBR4 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Red,Wessex and West Midlands GLH
Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBR4 were set to 23982692
Phenotypes for gene: UBR4 were set to Episodic ataxia, type 8, 616055
Paroxysmal central nervous system disorders v0.21 TTR Rebecca Foulger Source Wessex and West Midlands GLH was added to TTR.
Paroxysmal central nervous system disorders v0.21 TRPV4 Rebecca Foulger Source Wessex and West Midlands GLH was added to TRPV4.
Paroxysmal central nervous system disorders v0.21 TRPA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to TRPA1.
Paroxysmal central nervous system disorders v0.21 SPTLC2 Rebecca Foulger Source Wessex and West Midlands GLH was added to SPTLC2.
Paroxysmal central nervous system disorders v0.21 SPTLC1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SPTLC1.
Paroxysmal central nervous system disorders v0.21 SLC6A4 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A4.
Paroxysmal central nervous system disorders v0.21 SEPT9 Rebecca Foulger Source Wessex and West Midlands GLH was added to SEPT9.
Paroxysmal central nervous system disorders v0.21 SCN9A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN9A.
Paroxysmal central nervous system disorders v0.21 SCN4A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN4A.
Paroxysmal central nervous system disorders v0.21 SCN11A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN11A.
Paroxysmal central nervous system disorders v0.21 SCN10A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN10A.
Paroxysmal central nervous system disorders v0.21 RYR1 Rebecca Foulger Source Wessex and West Midlands GLH was added to RYR1.
Paroxysmal central nervous system disorders v0.21 RETREG1 Rebecca Foulger Source Wessex and West Midlands GLH was added to RETREG1.
Paroxysmal central nervous system disorders v0.21 RAB7A Rebecca Foulger Source Wessex and West Midlands GLH was added to RAB7A.
Paroxysmal central nervous system disorders v0.21 PYGM Rebecca Foulger Source Wessex and West Midlands GLH was added to PYGM.
Paroxysmal central nervous system disorders v0.21 PRNP Rebecca Foulger Source Wessex and West Midlands GLH was added to PRNP.
Paroxysmal central nervous system disorders v0.21 PRDM12 Rebecca Foulger Source Wessex and West Midlands GLH was added to PRDM12.
Paroxysmal central nervous system disorders v0.21 PER2 Rebecca Foulger Source Wessex and West Midlands GLH was added to PER2.
Paroxysmal central nervous system disorders v0.21 NTRK2 Rebecca Foulger Source Wessex and West Midlands GLH was added to NTRK2.
Paroxysmal central nervous system disorders v0.21 NTRK1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NTRK1.
Paroxysmal central nervous system disorders v0.21 NGF Rebecca Foulger Source Wessex and West Midlands GLH was added to NGF.
Paroxysmal central nervous system disorders v0.21 NAGLU Rebecca Foulger Source Wessex and West Midlands GLH was added to NAGLU.
Paroxysmal central nervous system disorders v0.21 MT-ATP8 Rebecca Foulger Source Wessex and West Midlands GLH was added to MT-ATP8.
Paroxysmal central nervous system disorders v0.21 MT-ATP6 Rebecca Foulger Source Wessex and West Midlands GLH was added to MT-ATP6.
Paroxysmal central nervous system disorders v0.21 MPV17 Rebecca Foulger Source Wessex and West Midlands GLH was added to MPV17.
Paroxysmal central nervous system disorders v0.21 KIF1A Rebecca Foulger Source Wessex and West Midlands GLH was added to KIF1A.
Paroxysmal central nervous system disorders v0.21 KCNJ2 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNJ2.
Paroxysmal central nervous system disorders v0.21 KCNJ18 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNJ18.
Paroxysmal central nervous system disorders v0.21 HTT Rebecca Foulger Source Wessex and West Midlands GLH was added to HTT.
Paroxysmal central nervous system disorders v0.21 HSPG2 Rebecca Foulger Source Wessex and West Midlands GLH was added to HSPG2.
Paroxysmal central nervous system disorders v0.21 HLA-DQB1 Rebecca Foulger Source Wessex and West Midlands GLH was added to HLA-DQB1.
Paroxysmal central nervous system disorders v0.21 HCRT Rebecca Foulger Source Wessex and West Midlands GLH was added to HCRT.
Paroxysmal central nervous system disorders v0.21 GLA Rebecca Foulger Source Wessex and West Midlands GLH was added to GLA.
Paroxysmal central nervous system disorders v0.21 EXT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to EXT1.
Paroxysmal central nervous system disorders v0.21 ELP1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ELP1.
Paroxysmal central nervous system disorders v0.21 EIF3G Rebecca Foulger Source Wessex and West Midlands GLH was added to EIF3G.
Paroxysmal central nervous system disorders v0.21 DMPK Rebecca Foulger Source Wessex and West Midlands GLH was added to DMPK.
Paroxysmal central nervous system disorders v0.21 CNBP Rebecca Foulger Source Wessex and West Midlands GLH was added to CNBP.
Paroxysmal central nervous system disorders v0.21 CLTCL1 Rebecca Foulger Source Wessex and West Midlands GLH was added to CLTCL1.
Paroxysmal central nervous system disorders v0.21 CLCN1 Rebecca Foulger Source Wessex and West Midlands GLH was added to CLCN1.
Paroxysmal central nervous system disorders v0.21 CCT5 Rebecca Foulger Source Wessex and West Midlands GLH was added to CCT5.
Paroxysmal central nervous system disorders v0.21 CACNA1S Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNA1S.
Paroxysmal central nervous system disorders v0.21 ATP7B Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP7B.
Paroxysmal central nervous system disorders v0.21 ATP2A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP2A1.
Paroxysmal central nervous system disorders v0.21 ATN1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATN1.
Paroxysmal central nervous system disorders v0.21 ATL3 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATL3.
Paroxysmal central nervous system disorders v0.21 ATL1 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATL1.
Paroxysmal central nervous system disorders v0.21 AKR1C2 Rebecca Foulger Source Wessex and West Midlands GLH was added to AKR1C2.
Paroxysmal central nervous system disorders v0.21 SPR Rebecca Foulger Source Wessex and West Midlands GLH was added to SPR.
Paroxysmal central nervous system disorders v0.21 SLC6A5 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC6A5.
Paroxysmal central nervous system disorders v0.21 SCN8A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN8A.
Paroxysmal central nervous system disorders v0.21 NKX2-1 Rebecca Foulger Source Wessex and West Midlands GLH was added to NKX2-1.
Paroxysmal central nervous system disorders v0.21 MOG Rebecca Foulger Source Wessex and West Midlands GLH was added to MOG.
Paroxysmal central nervous system disorders v0.21 KCNQ3 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNQ3.
Paroxysmal central nervous system disorders v0.21 KCNQ2 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNQ2.
Paroxysmal central nervous system disorders v0.21 KCNK18 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNK18.
Paroxysmal central nervous system disorders v0.21 KCNJ5 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNJ5.
Paroxysmal central nervous system disorders v0.21 GLRB Rebecca Foulger Source Wessex and West Midlands GLH was added to GLRB.
Paroxysmal central nervous system disorders v0.21 GLRA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to GLRA1.
Paroxysmal central nervous system disorders v0.21 CACNB4 Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNB4.
Paroxysmal central nervous system disorders v0.21 ATAD1 Rebecca Foulger gene: ATAD1 was added
gene: ATAD1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Wessex and West Midlands GLH,Expert Review Amber
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, 618011
Paroxysmal central nervous system disorders v0.21 SLC2A1 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC2A1.
Paroxysmal central nervous system disorders v0.21 SLC1A3 Rebecca Foulger Source Wessex and West Midlands GLH was added to SLC1A3.
Paroxysmal central nervous system disorders v0.21 SCN1A Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN1A.
Paroxysmal central nervous system disorders v0.21 PRRT2 Rebecca Foulger Source Wessex and West Midlands GLH was added to PRRT2.
Paroxysmal central nervous system disorders v0.21 PNKD Rebecca Foulger Source Wessex and West Midlands GLH was added to PNKD.
Paroxysmal central nervous system disorders v0.21 KCNMA1 Rebecca Foulger gene: KCNMA1 was added
gene: KCNMA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green,Wessex and West Midlands GLH
Mode of inheritance for gene: KCNMA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNMA1 were set to Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446
Paroxysmal central nervous system disorders v0.21 KCNA1 Rebecca Foulger Source Wessex and West Midlands GLH was added to KCNA1.
Paroxysmal central nervous system disorders v0.21 DNMT1 Rebecca Foulger Source Wessex and West Midlands GLH was added to DNMT1.
Paroxysmal central nervous system disorders v0.21 CSNK1D Rebecca Foulger Source Wessex and West Midlands GLH was added to CSNK1D.
Paroxysmal central nervous system disorders v0.21 CACNA1A Rebecca Foulger Source Wessex and West Midlands GLH was added to CACNA1A.
Paroxysmal central nervous system disorders v0.21 ATP1A3 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP1A3.
Paroxysmal central nervous system disorders v0.21 ATP1A2 Rebecca Foulger Source Wessex and West Midlands GLH was added to ATP1A2.
Paroxysmal central nervous system disorders v0.21 ADCY5 Rebecca Foulger Source Wessex and West Midlands GLH was added to ADCY5.
Renal tubulopathies v1.82 WNK4 Eleanor Williams commented on gene: WNK4: Associated with Pseudohypoaldosteronism, type IIB #614491 in OMIM.

PMID: 11498583 - Wilson et al. 2001 - Examination of WNK4 in PHAII kindreds identified four missense mutations, all of
which cosegregated with the disease.Three of these are charge-changing substitutions that cluster in a span of four amino acids within a negatively charged 10-amino acid segment that is highly conserved among all members of the WNK family in human as well as orthologs in mouse and rat
Intellectual disability v2.1021 MED25 Konstantinos Varvagiannis changed review comment from: Please consider the 2 additional articles by Nair et al. (2019 - DOI: 10.1159/000494465 - PMID: 30800049 & DOI: 10.1159/000501114 - PMID: NA) reporting on 3 individuals from 2 consanguineous Lebanese families. All affected individuals were homozygous for a MED25 missense variant [NM_030973.3:c.518T>C / p.Ile173Thr], possibly a founder mutation in the Lebanese population. The phenotype presented some similarities with the previously described patients. The variant has a very low AF in gnomAD (0.00003470) and was also absent from the Saudi Variant Database. In silico predictions from PolyPhen2, PROVEAN, MutationTaster were suggestive of a probably damaging effect. The individual from the first report (PMID: 30800049) had an additional homozygous COQ8A variant, with some features fitting with the phenotype of AR primary CoQ10 deficiency type 4 and others negating this diagnosis.

MED25 is included in gene panels for ID offered by several diagnostic laboratories (incl. Radboudumc, Victorian Clinical Genetics and many others). It is not however included in the DD panel of G2P.; to: Please consider the 2 additional articles by Nair et al. (2019 - DOI: 10.1159/000494465 - PMID: 30800049 & DOI: 10.1159/000501114 - PMID: NA) reporting on 3 individuals from 2 consanguineous Lebanese families. All affected individuals were homozygous for a MED25 missense variant [NM_030973.3:c.518T>C / p.Ile173Thr], possibly a founder mutation in the Lebanese population. The phenotype presented some similarities with the previously described patients. The variant has a very low AF in gnomAD (0.00003470) and was also absent from the Saudi Variant Database. In silico predictions from PolyPhen2, PROVEAN, MutationTaster were suggestive of a probably damaging effect. The individual from the first report (PMID: 30800049) had an additional homozygous COQ8A variant, with some features fitting with the phenotype of AR primary CoQ10 deficiency type 4 and others negating this (possibly concurrent) diagnosis.

MED25 is included in gene panels for ID offered by several diagnostic laboratories (incl. Radboudumc, Victorian Clinical Genetics and many others). It is not however included in the DD panel of G2P.
Intellectual disability v2.1021 MED25 Konstantinos Varvagiannis reviewed gene: MED25: Rating: AMBER; Mode of pathogenicity: None; Publications: 30800049, DOI:10.1159/000501114, 25527630, 25792360; Phenotypes: Basel-Vanagait-Smirin-Yosef syndrome (MIM 616449); Mode of inheritance: None; Current diagnostic: yes
Renal tubulopathies v1.82 REN Eleanor Williams changed review comment from: Associated with Hyperuricemic nephropathy, familial juvenile 2 #613092 (AD) and Renal tubular dysgenesis #267430 (AR) in OMIM.

PMID: 16116425 - Gribouval et al 2005 - abstract only accessed. They studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1. From the abstract cannot tell how many families had mutations in renin but the review of Gribouval et al 2012 (PMID: 22095942) - lists 12 different variants in REN as causing Renal Tublular Dysgenesis, including those reported in the Gribouval et al 2005 paper and the 2012 report, and other publications Michaud et al. [2011](PMID: 21036942), Bacchetta et al. [2007](PMID: 17555949).

PMID: 19664745 - Zivna et al 2009 - identified three unrelated families with the autosomal-dominant inheritance of early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure, and mutations resulting either in the deletion (p.Leu16del) or the amino acid exchange (p.Leu16Arg) of a single leucine residue in the signal sequence of renin.; to: Associated with Hyperuricemic nephropathy, familial juvenile 2 #613092 (AD) and Renal tubular dysgenesis #267430 (AR) in OMIM.

Gribouval et al 2012 (PMID: 22095942) - lists 12 different variants in REN as causing Renal Tublular Dysgenesis, including those reported in this study and Gribouval et al 2005 (PMID: 16116425), Michaud et al. [2011](PMID: 21036942) and Bacchetta et al. [2007](PMID: 17555949).

PMID: 19664745 - Zivna et al 2009 - identified three unrelated families with the autosomal-dominant inheritance of early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure, and mutations resulting either in the deletion (p.Leu16del) or the amino acid exchange (p.Leu16Arg) of a single leucine residue in the signal sequence of renin.
Renal tubulopathies v1.82 REN Eleanor Williams commented on gene: REN: Associated with Hyperuricemic nephropathy, familial juvenile 2 #613092 (AD) and Renal tubular dysgenesis #267430 (AR) in OMIM.

PMID: 16116425 - Gribouval et al 2005 - abstract only accessed. They studied 11 individuals with renal tubular dysgenesis, belonging to nine families, and found that they had homozygous or compound heterozygous mutations in the genes encoding renin, angiotensinogen, angiotensin converting enzyme or angiotensin II receptor type 1. From the abstract cannot tell how many families had mutations in renin but the review of Gribouval et al 2012 (PMID: 22095942) - lists 12 different variants in REN as causing Renal Tublular Dysgenesis, including those reported in the Gribouval et al 2005 paper and the 2012 report, and other publications Michaud et al. [2011](PMID: 21036942), Bacchetta et al. [2007](PMID: 17555949).

PMID: 19664745 - Zivna et al 2009 - identified three unrelated families with the autosomal-dominant inheritance of early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure, and mutations resulting either in the deletion (p.Leu16del) or the amino acid exchange (p.Leu16Arg) of a single leucine residue in the signal sequence of renin.
Renal tubulopathies v1.82 OCRL Eleanor Williams commented on gene: OCRL: Associated with Dent disease 2 #300555 and Lowe syndrome #309000 in OMIM both with reported renal clinical features.

Many cases of association between variants in OCRL and these diseases reported in OMIM.
e.g. PMID: 10364518 (Satre et al 1999) reports on 8 famlies with Lowe Syndrome. Five of these eight pedigrees had a family history of at least two male patients carrying a clinical diagnosis of Lowe syndrome on the basis of the classic triad of defects affecting lens, brain and kidney. Seven new mutations and one recurrent mutation were identified in the OCRL1 gene in one carrier mother and in seven affected patients. They identified a germ-line mosaicism in one family.
Renal tubulopathies v1.82 NR3C2 Eleanor Williams commented on gene: NR3C2: Associated with Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy #605115 and
Pseudohypoaldosteronism type I, autosomal dominant #177735 in OMIM.

The gene is also known as MCR.
Many cases of Pseudohypoaldosteronism associated with variants in NR3C2 reported in OMIM.
Renal tubulopathies v1.82 MAGED2 Eleanor Williams commented on gene: MAGED2: Associated with Bartter syndrome, type 5, antenatal, transient #300971 in OMIM.

Laghmani et al. (2016) - identified variants in MAGED2 in 13 infants from 9 families who had transient antenatal Bartter's syndrome. All affected infants were male. They observed prominent tubular expression of MAGE-D2 in the human fetal renal cortex. In total, seven truncating mutations (two nonsense, two frameshift, and three splice-site mutations) and two nontruncating mutations (one missense and one in-frame deletion) were identified.
Renal tubulopathies v1.82 KLHL3 Eleanor Williams commented on gene: KLHL3: Associated with Pseudohypoaldosteronism, type IID 614495 in OMIM.
Many reports of cases in OMIM. Both monoallelic and biallelic.
Early onset or syndromic epilepsy v1.260 KATNB1 Konstantinos Varvagiannis gene: KATNB1 was added
gene: KATNB1 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly (MIM 616212)
Review for gene: KATNB1 was set to GREEN
Added comment: Biallelic pathogenic KATNB1 variants cause Lissencephaly 6, with microcephaly (MIM 616212). At least 13 affected individuals from 9 (mostly consanguineous) families have probably been reported in the following articles:

- Mishra-Gorur et al. (2014 - PMID: 25521378) [7 individuals from 5 unrelated families]
- Hu et al. (2014 - PMID: 25521379) [5 individuals from 3 families]
- Yigit el al. (2016 - PMID: 26640080) [1 subject born to consanguineous parents]

Seizures can be part of the phenotype (although not universal / reported in all 3 studies in several families). Several different variants have been reported to date. Extensive studies as for the impact of mutations at the cellular level as well as animal models (zebrafish, mouse, drosophila) support involvement of KATNB1. These arguments, provided mainly by the first two studies, are summarized in the respective OMIM entry for the disorder : https://omim.org/entry/616212 (variants and their effect are discussed in the entry for KATNB1 - https://omim.org/entry/602703).

The individual reported by Yigit el al. was a 5 year-old girl with - among others - severely delayed psychomotor development and seizures. The child was found to harbor a homozygous splice site variant (removing the acceptor AG signature). Confirmation of the variant and segregation studies were performed with Sanger sequencing. cDNA studies were carried out and demonstrated aberrant splicing.

KATNB1 is not associated with any disorder in G2P.
The gene is included in panels for ID offered by several diagnostic laboratories (incl. Radboudumc).

As a result, this gene can be considered for inclusion in the current panel probably as green (or amber).
Sources: Literature
Intellectual disability v2.1021 KATNB1 Konstantinos Varvagiannis gene: KATNB1 was added
gene: KATNB1 was added to Intellectual disability. Sources: Literature,Radboud University Medical Center, Nijmegen
Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KATNB1 were set to 25521378; 25521379; 26640080
Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly (MIM 616212)
Penetrance for gene: KATNB1 were set to Complete
Review for gene: KATNB1 was set to GREEN
gene: KATNB1 was marked as current diagnostic
Added comment: Biallelic pathogenic KATNB1 variants cause Lissencephaly 6, with microcephaly (MIM 616212). At least 13 affected individuals from 9 (mostly consanguineous) families have probably been reported in the following articles:

- Mishra-Gorur et al. (2014 - PMID: 25521378) [7 individuals from 5 unrelated families]
- Hu et al. (2014 - PMID: 25521379) [5 individuals from 3 families]
- Yigit el al. (2016 - PMID: 26640080) [1 subject born to consanguineous parents]

The phenotype appears to be relevant to the current panel. Several different variants have been reported to date. Extensive studies as for the impact of mutations at the cellular level as well as animal models (zebrafish, mouse, drosophila) support involvement of KATNB1. These arguments, provided mainly by the first two studies, are summarized in the respective OMIM entry for the disorder : https://omim.org/entry/616212 (variants and their effect are discussed in the entry for KATNB1 - https://omim.org/entry/602703).

The individual reported by Yigit el al. was a 5 year-old girl with - among others - severely delayed psychomotor development. The child was found to harbor a homozygous splice site variant (removing the acceptor AG signature). Confirmation of the variant and segregation studies were performed with Sanger sequencing. cDNA studies were carried out and demonstrated aberrant splicing.

KATNB1 is not associated with any disorder in G2P.
The gene is included in panels for ID offered by several diagnostic laboratories (incl. Radboudumc).

As a result, this gene can be considered for inclusion in the current panel probably as green (or amber).
Sources: Literature, Radboud University Medical Center, Nijmegen
Intellectual disability v2.1021 MED13 Konstantinos Varvagiannis changed review comment from: Snijders Blok et al. (2018 - PMID: 29740699) report on 13 individuals with MED13 mutations.

Features included DD with speech difficulties (both universal) and motor delay in some. ID was observed in at least 9/13 and in most cases was in the borderline/mild range (moderate ID reported for 1 individual). Other features were ASD (5/13), ADHD, eye/vision abnormalities and in few individuals obstipation or congenital heart anomalies. Some possibly overlapping facial characteristics were also noted.

MED13 and MED13L are mutually exclusive components of the CDK8 kinase module that regulates the activity of the Mediator complex. The Mediator transmits signals from various transcription factors to RNA polymerase II (Pol II). Reversible binding of the CDK8 kinase controls Mediator - Pol II interaction (prevents Pol II recruitment) and thus acts as a molecular switch in Pol II - mediated transcription. DD and ID are features of the MED13L- and CDK8- related disorders.

3 stopgain, 2 frameshift, 6 missense variants and 1 in-frame deletion were reported. In 11 cases, the variants had occurred as de novo events, while 1 individual had inherited a nonsense variant from a similarly affected mother (unknown inheritance in her case).

Effect of a stopgain variant was studied with similar (total) transcript levels between the affected patient and his parents/controls upon qPCR. Sanger sequencing of cDNA amplicons was suggestive of the presence of an aberrant transcript at ~70% levels relative to the normal transcript. Truncated protein was undetectable by Western Blot in mononuclear blood cells from affected subjects. Total MED13 protein levels were not clearly different when comparing an affected individual with his unaffected parent (?).

Missense variants and the inframe deletion clustered either in the N- or the C-terminal domain, with the N-terminal ones all (T326I, T326del, P327S, P327Q / NM_005121.2 - NP_005112.2) affecting positions of a known phosphodegron sequence, important for the protein's ubiquitination and degradation. Another previously studied variant (T326A) had been shown to prevent degradation. As a result, the variants affecting aa 326-327 might lead to altered (increased) levels of MED13.

The remaining missense variants affected the C-terminal portion (Q2060L, A2064V).

As a result the impact of the different subcategories of variants remains unclear/inconclusive.

MED13 is not associated with any phenotype in OMIM. This gene is part of the DD panel of G2P, associated with "MED13 - Neurodevelopment disorder" (dis. confidence : probable / mutation consequence : LoF / GDD, speech/language delay, ID, autistic behavior among the assigned phenotypes).

MED13 is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc).

ID is part of the phenotype of MED13-related disorder, however as the severity in most individuals - when present - was in the borderline/mild range (not relevant for the present panel) and/or the underlying effect of mutations remains unclear, amber rating can probably be considered for this gene.
Sources: Radboud University Medical Center, Nijmegen, Literature; to: Snijders Blok et al. (2018 - PMID: 29740699) report on 13 individuals with MED13 mutations.

Features included DD with speech difficulties (both universal) and motor delay in some. ID was observed in at least 9/13 and in most cases was in the borderline/mild range (moderate ID reported for 1 individual). Other features were ASD (5/13), ADHD, eye/vision abnormalities and in few individuals obstipation or congenital heart anomalies. Some possibly overlapping facial characteristics were also noted.

MED13 and MED13L are mutually exclusive components of the CDK8 kinase module that regulates the activity of the Mediator complex. The Mediator transmits signals from various transcription factors to RNA polymerase II (Pol II). Reversible binding of the CDK8 kinase controls Mediator - Pol II interaction (prevents Pol II recruitment) and thus acts as a molecular switch in Pol II - mediated transcription. DD and ID are features of the MED13L- and CDK8- related disorders.

3 stopgain, 2 frameshift, 6 missense variants and 1 in-frame deletion were reported. In 11 cases, the variants had occurred as de novo events, while 1 individual had inherited a nonsense variant from a similarly affected mother (unknown inheritance in her case).

Effect of a stopgain variant was studied with similar (total) transcript levels between the affected patient and his parents/controls upon qPCR. Sanger sequencing of cDNA amplicons was suggestive of the presence of an aberrant transcript at ~70% levels relative to the normal transcript. Truncated protein was undetectable by Western Blot in mononuclear blood cells from affected subjects. Total MED13 protein levels were not clearly different when comparing an affected individual with his unaffected parent (?).

Missense variants and the inframe deletion clustered either in the N- or the C-terminal domain, with the N-terminal ones all (T326I, T326del, P327S, P327Q / NM_005121.2 - NP_005112.2) affecting positions of a known phosphodegron sequence, important for the protein's ubiquitination and degradation. Another previously studied variant (T326A) had been shown to prevent degradation. As a result, the variants affecting aa 326-327 might lead to altered (increased) levels of MED13.

The remaining missense variants affected the C-terminal portion (Q2060L, A2064V).

As a result the impact of the different subcategories of variants remains unclear/inconclusive.

MED13 is not associated with any phenotype in OMIM. This gene is part of the DD panel of G2P, associated with "MED13 - Neurodevelopment disorder" (dis. confidence : probable / mutation consequence : LoF / GDD, speech/language delay, ID, autistic behavior among the assigned phenotypes).

MED13 is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc).

ID is part of the phenotype of MED13-related disorder. However as the severity in most individuals - when present - was in the borderline/mild range (not relevant for the present panel) and/or the underlying effect of mutations remains unclear, amber rating seems more appropriate.
Sources: Radboud University Medical Center, Nijmegen, Literature
Intellectual disability v2.1021 MED13 Konstantinos Varvagiannis gene: MED13 was added
gene: MED13 was added to Intellectual disability. Sources: Radboud University Medical Center, Nijmegen,Literature
Mode of inheritance for gene: MED13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MED13 were set to 29740699
Phenotypes for gene: MED13 were set to Delayed speech and language development; Motor delay; Intellectual disability; Autistic behavior; Attention deficit hyperactivity disorder; Abnormality of the eye; Constipation
Penetrance for gene: MED13 were set to unknown
Review for gene: MED13 was set to AMBER
gene: MED13 was marked as current diagnostic
Added comment: Snijders Blok et al. (2018 - PMID: 29740699) report on 13 individuals with MED13 mutations.

Features included DD with speech difficulties (both universal) and motor delay in some. ID was observed in at least 9/13 and in most cases was in the borderline/mild range (moderate ID reported for 1 individual). Other features were ASD (5/13), ADHD, eye/vision abnormalities and in few individuals obstipation or congenital heart anomalies. Some possibly overlapping facial characteristics were also noted.

MED13 and MED13L are mutually exclusive components of the CDK8 kinase module that regulates the activity of the Mediator complex. The Mediator transmits signals from various transcription factors to RNA polymerase II (Pol II). Reversible binding of the CDK8 kinase controls Mediator - Pol II interaction (prevents Pol II recruitment) and thus acts as a molecular switch in Pol II - mediated transcription. DD and ID are features of the MED13L- and CDK8- related disorders.

3 stopgain, 2 frameshift, 6 missense variants and 1 in-frame deletion were reported. In 11 cases, the variants had occurred as de novo events, while 1 individual had inherited a nonsense variant from a similarly affected mother (unknown inheritance in her case).

Effect of a stopgain variant was studied with similar (total) transcript levels between the affected patient and his parents/controls upon qPCR. Sanger sequencing of cDNA amplicons was suggestive of the presence of an aberrant transcript at ~70% levels relative to the normal transcript. Truncated protein was undetectable by Western Blot in mononuclear blood cells from affected subjects. Total MED13 protein levels were not clearly different when comparing an affected individual with his unaffected parent (?).

Missense variants and the inframe deletion clustered either in the N- or the C-terminal domain, with the N-terminal ones all (T326I, T326del, P327S, P327Q / NM_005121.2 - NP_005112.2) affecting positions of a known phosphodegron sequence, important for the protein's ubiquitination and degradation. Another previously studied variant (T326A) had been shown to prevent degradation. As a result, the variants affecting aa 326-327 might lead to altered (increased) levels of MED13.

The remaining missense variants affected the C-terminal portion (Q2060L, A2064V).

As a result the impact of the different subcategories of variants remains unclear/inconclusive.

MED13 is not associated with any phenotype in OMIM. This gene is part of the DD panel of G2P, associated with "MED13 - Neurodevelopment disorder" (dis. confidence : probable / mutation consequence : LoF / GDD, speech/language delay, ID, autistic behavior among the assigned phenotypes).

MED13 is included in gene panels for ID offered by some diagnostic laboratories (incl. Radboudumc).

ID is part of the phenotype of MED13-related disorder, however as the severity in most individuals - when present - was in the borderline/mild range (not relevant for the present panel) and/or the underlying effect of mutations remains unclear, amber rating can probably be considered for this gene.
Sources: Radboud University Medical Center, Nijmegen, Literature
Early onset or syndromic epilepsy v1.260 PAK1 Konstantinos Varvagiannis edited their review of gene: PAK1: Added comment: Based on a further recent study, PAK1 can probably be upgraded to green in both ID and epilepsy gene panels:

Horn et al. (2019 - doi.org/10.1093/brain/awz264) report on 4 additional individuals with de novo missense PAK1 pathogenic variants. ID, seizures and macrocephaly and walking difficulties were observed in all (4/4). ASD was reported in 3 (but was not among the features in the study by Harms et al).

PAK1 encodes p21 protein-activated kinase 1. The protein has 2 major domains, an autoregulatory and a protein kinase domain. Homodimerization masks the active site of the kinase, leading to autoinhibition (inactive form). PAK1 is activated by dissociation into monomers upon binding of the GTP-bound forms of the Rho GTPases CDC42 and RAC1. TRIO and HACE1 are indirect regulators of PAK1, via RAC1. PAK1 in turn, activates LIMK1 which plays a critical role in dendritic spine morphogenesis and brain function.

CDC42, RAC1, TRIO, HACE1 are all associated with neurodevelopmental disorders. Activation of RAC-PAK1-LIMK1 pathway has been demonstrated for Fragile-X syndrome (sharing ID, macrocephaly and seizures).

Mutations in PAK3, another member of the group I PAK subfamily with similar activation mechanism to PAK1 (by CDC42 / RAC1), cause Mental retardation, X-linked 30/47 (MIM 300558) (Green rating in the current panel).

4 additional missense variants - further to the 2 previously described ones - were found, all as de novo events:
c.397T>C (p.Ser133Pro) / c.361C>T p.(Pro121Ser) / c.328T>A p.(Ser110Thr) / c.1409T>G (p.Leu470Arg) [For the specific variants, cDNA and aa change are the same for both NM_001128620.1 and NM_002576].

The 3 former variants located within the autoinhibitory domain while the latter in the protein kinase domain though - again - close to the autoinhibitory one (in tertiary structure). A gain of function effect by reduced ability of autoinhibition (leading to autophosphorylation) and activation of PAK1 is the suggested mechanism. Gain of function is also supported by the fact that Pak1-/- do not exhibit neurodevelopmental anomalies / abnormal head size. PAK1 is not particularly intolerant to LoF variants as suggested by its pLI of 0.67.

The corresponding phenotype in OMIM is Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158). The gene is part of the DD panel of G2P, associated with "Neurodevelopmental Disorder" (monoallelic, activating / disease confidence : probable).

PAK1 is included in the gene panel for ID offered by Radboudumc.

(Previous review below); Changed rating: GREEN; Changed publications: 30290153, doi.org/10.1093/brain/awz264
Intellectual disability v2.1021 PAK1 Konstantinos Varvagiannis changed review comment from: Horn et al. (2019 - doi.org/10.1093/brain/awz264) report on 4 additional individuals with de novo missense PAK1 pathogenic variants. ID, seizures and macrocephaly and walking difficulties were observed in all (4/4). ASD was reported in 3 (but was not among the features in the study by Harms et al).

PAK1 encodes p21 protein-activated kinase 1. The protein has 2 major domains, an autoregulatory and a protein kinase domain. Homodimerization masks the active site of the kinase, leading to autoinhibition (inactive form). PAK1 is activated by dissociation into monomers upon binding of the GTP-bound forms of the Rho GTPases CDC42 and RAC1. TRIO and HACE1 are indirect regulators of PAK1, via RAC1. PAK1 in turn, activates LIMK1 which plays a critical role in dendritic spine morphogenesis and brain function.

CDC42, RAC1, TRIO, HACE1 are all associated with neurodevelopmental disorders. Activation of RAC-PAK1-LIMK1 pathway has been demonstrated for Fragile-X syndrome (sharing ID, macrocephaly and seizures).

Mutations in PAK3, another member of the group I PAK subfamily with similar activation mechanism to PAK1 (by CDC42 / RAC1), cause Mental retardation, X-linked 30/47 (MIM 300558) (Green rating in the current panel).

4 additional missense variants - further to the 2 previously described ones - were found, all as de novo events:
c.397T>C (p.Ser133Pro) / c.361C>T p.(Pro121Ser) / c.328T>A p.(Ser110Thr) / c.1409T>G (p.Leu470Arg) [For the specific variants, cDNA and aa change are the same for both NM_001128620.1 and NM_002576].

The 3 former variants located within the autoinhibitory domain while the latter in the protein kinase domain though - again - close to the autoinhibitory one (in tertiary structure). A gain of function effect by reduced ability of autoinhibition (leading to autophosphorylation) and activation of PAK1 is the suggested mechanism. Gain of function is also supported by the fact that Pak1-/- do not exhibit neurodevelopmental anomalies / abnormal head size. PAK1 is not particularly intolerant to LoF variants as suggested by its pLI of 0.67.

The corresponding phenotype in OMIM is Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158). The gene is part of the DD panel of G2P, associated with "Neurodevelopmental Disorder" (monoallelic, activating / disease confidence : probable).

PAK1 is included in the gene panel for ID offered by Radboudumc.; to: Based on a further recent study, PAK1 can probably be upgraded to green in both ID and epilepsy gene panels:

Horn et al. (2019 - doi.org/10.1093/brain/awz264) report on 4 additional individuals with de novo missense PAK1 pathogenic variants. ID, seizures and macrocephaly and walking difficulties were observed in all (4/4). ASD was reported in 3 (but was not among the features in the study by Harms et al).

PAK1 encodes p21 protein-activated kinase 1. The protein has 2 major domains, an autoregulatory and a protein kinase domain. Homodimerization masks the active site of the kinase, leading to autoinhibition (inactive form). PAK1 is activated by dissociation into monomers upon binding of the GTP-bound forms of the Rho GTPases CDC42 and RAC1. TRIO and HACE1 are indirect regulators of PAK1, via RAC1. PAK1 in turn, activates LIMK1 which plays a critical role in dendritic spine morphogenesis and brain function.

CDC42, RAC1, TRIO, HACE1 are all associated with neurodevelopmental disorders. Activation of RAC-PAK1-LIMK1 pathway has been demonstrated for Fragile-X syndrome (sharing ID, macrocephaly and seizures).

Mutations in PAK3, another member of the group I PAK subfamily with similar activation mechanism to PAK1 (by CDC42 / RAC1), cause Mental retardation, X-linked 30/47 (MIM 300558) (Green rating in the current panel).

4 additional missense variants - further to the 2 previously described ones - were found, all as de novo events:
c.397T>C (p.Ser133Pro) / c.361C>T p.(Pro121Ser) / c.328T>A p.(Ser110Thr) / c.1409T>G (p.Leu470Arg) [For the specific variants, cDNA and aa change are the same for both NM_001128620.1 and NM_002576].

The 3 former variants located within the autoinhibitory domain while the latter in the protein kinase domain though - again - close to the autoinhibitory one (in tertiary structure). A gain of function effect by reduced ability of autoinhibition (leading to autophosphorylation) and activation of PAK1 is the suggested mechanism. Gain of function is also supported by the fact that Pak1-/- do not exhibit neurodevelopmental anomalies / abnormal head size. PAK1 is not particularly intolerant to LoF variants as suggested by its pLI of 0.67.

The corresponding phenotype in OMIM is Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158). The gene is part of the DD panel of G2P, associated with "Neurodevelopmental Disorder" (monoallelic, activating / disease confidence : probable).

PAK1 is included in the gene panel for ID offered by Radboudumc.

(Previous review below)
Intellectual disability v2.1021 PAK1 Konstantinos Varvagiannis edited their review of gene: PAK1: Added comment: Horn et al. (2019 - doi.org/10.1093/brain/awz264) report on 4 additional individuals with de novo missense PAK1 pathogenic variants. ID, seizures and macrocephaly and walking difficulties were observed in all (4/4). ASD was reported in 3 (but was not among the features in the study by Harms et al).

PAK1 encodes p21 protein-activated kinase 1. The protein has 2 major domains, an autoregulatory and a protein kinase domain. Homodimerization masks the active site of the kinase, leading to autoinhibition (inactive form). PAK1 is activated by dissociation into monomers upon binding of the GTP-bound forms of the Rho GTPases CDC42 and RAC1. TRIO and HACE1 are indirect regulators of PAK1, via RAC1. PAK1 in turn, activates LIMK1 which plays a critical role in dendritic spine morphogenesis and brain function.

CDC42, RAC1, TRIO, HACE1 are all associated with neurodevelopmental disorders. Activation of RAC-PAK1-LIMK1 pathway has been demonstrated for Fragile-X syndrome (sharing ID, macrocephaly and seizures).

Mutations in PAK3, another member of the group I PAK subfamily with similar activation mechanism to PAK1 (by CDC42 / RAC1), cause Mental retardation, X-linked 30/47 (MIM 300558) (Green rating in the current panel).

4 additional missense variants - further to the 2 previously described ones - were found, all as de novo events:
c.397T>C (p.Ser133Pro) / c.361C>T p.(Pro121Ser) / c.328T>A p.(Ser110Thr) / c.1409T>G (p.Leu470Arg) [For the specific variants, cDNA and aa change are the same for both NM_001128620.1 and NM_002576].

The 3 former variants located within the autoinhibitory domain while the latter in the protein kinase domain though - again - close to the autoinhibitory one (in tertiary structure). A gain of function effect by reduced ability of autoinhibition (leading to autophosphorylation) and activation of PAK1 is the suggested mechanism. Gain of function is also supported by the fact that Pak1-/- do not exhibit neurodevelopmental anomalies / abnormal head size. PAK1 is not particularly intolerant to LoF variants as suggested by its pLI of 0.67.

The corresponding phenotype in OMIM is Intellectual developmental disorder with macrocephaly, seizures, and speech delay (MIM 618158). The gene is part of the DD panel of G2P, associated with "Neurodevelopmental Disorder" (monoallelic, activating / disease confidence : probable).

PAK1 is included in the gene panel for ID offered by Radboudumc.; Changed rating: GREEN; Changed publications: 30290153, doi.org/10.1093/brain/awz264; Set current diagnostic: yes
Renal tubulopathies v1.82 KCNJ10 Eleanor Williams commented on gene: KCNJ10: Associated with SESAME syndrome #612780 in OMIM which includes a renal phenotype.

Many cases (> 3) reported in OMIM.
Renal tubulopathies v1.82 HNF1B Eleanor Williams commented on gene: HNF1B: Associated with Renal cysts and diabetes syndrome #137920 in OMIM.

Many cases reported in OMIM of cases with variants in HNF1B and Renal cysts and diabetes syndrome.
Renal tubulopathies v1.82 GNAS Eleanor Williams commented on gene: GNAS: Linked to several disease phenotypes in OMIM but they don't appear relevant to a renal disease.

PMID: 30312418 Biebermann et al 2018 - two unrelated boys presenting with a new combination of clinical findings that suggest both gain and loss of Gαs function. Both unrelated patients presented severe asymptomatic infantile hyponatremia, skeletal and growth plate abnormalities, early onset pubertal development, and apparent PTH resistance in the proximal but not in the distal renal tubules. An identical heterozygous de novo variant (c.1136T>G; p.F376V) was found on the maternal GNAS allele in both patients.
Renal tubulopathies v1.82 GNA11 Eleanor Williams commented on gene: GNA11: Associated with Hypocalcemia, autosomal dominant 2 #615361 and Hypocalciuric hypercalcemia, type II #145981 in OMIM.

PMID: 23802536 - Mannstadt et al 2013 - in 2 unrelated 4-generation families with segregating autosomal dominant hypocalcemia they identified heterozygous missense mutations (c.178C-T, R60C and c.632C-G , S211W) that segregated with disease in each family. **However, none of the affected members in either family had a history of renal abnormalities.**

PMID: 24823460 - Li et al 2014 - ina large 4-generation family segregating autosomal dominant hypocalcemia/autosomal dominant hypoparathyroidism and short stature, they identified a heterozygous missense mutation in the GNA11 gene (R60L) that segregated with disease in the family. The initial proband identified had nephrogenic diabetes insipidus along with short stature.The basis for this episode of transient diabetes insipidus remains unknown, and no other member of the extended family has ever manifested symptoms of diabetes insipidus.
Renal tubulopathies v1.82 GATM Eleanor Williams commented on gene: GATM: PMID: 29654216 (Reichold et al 2018) reports 5 families with with a novel form of autosomal dominant kidney disease characterized by renal tubular Fanconi syndrome early in life followed by progression to renal glomerular failure in mid-adulthood. All patients show monoallelic mutations in the gene GATM. 4 heterozygous missense mutations of evolutionary conserved amino acid residues in GATM were found (c.958C>T, p.P320S; c.1006A>G, p.T336A; c.1007C>T, p.T336I;
c.1022C>T, p.P341L). In each family, one variant segregated with the disorder and was fully penetrant. In silico analysis showed that the particular GATM mutations create an additional interaction interface within the GATM protein and likely cause the linear aggregation of GATM observed in patient biopsy specimens and cultured proximal tubule cells.
Renal tubulopathies v1.82 FXYD2 Eleanor Williams commented on gene: FXYD2: Associated with Hypomagnesemia 2, renal #154020 in OMIM.


PMID: 11062458 - Meij et al 2000 - Identified a heterozygous mutation, 123G→A in FXYD2 in a large Dutch family with dominant hypomagnesaemia which cosegregated with the disorder. The mutation causes the substitution of the conserved glycine 41 within the putative transmembrane domain by arginine.

PMID: 2576584 - de Baaij et al 2015 - two families (Dutch and Belgian) with hypomagnesaemia and hypocalciuria were screened for mutations in the FXYD2 gene. The same mutation as reported before was found in these families, c.115G>A, p.Gly41Arg, and haplotype analysis revealed an overlapping haplotype in all families, suggesting a founder effect.

3 cases but likely linked by common ancestor as same variant found in all three.
Retinal disorders v1.161 OPN1MW Ivone Leong Classified gene: OPN1MW as Green List (high evidence)
Retinal disorders v1.161 OPN1MW Ivone Leong Added comment: Comment on list classification: Promoted to green based on expert review by Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Retinal disorders v1.161 OPN1MW Ivone Leong Gene: opn1mw has been classified as Green List (High Evidence).
Retinal disorders v1.160 TYRP1 Ivone Leong reviewed gene: TYRP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 TYR Ivone Leong reviewed gene: TYR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 TMEM126A Ivone Leong reviewed gene: TMEM126A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 SLC45A2 Ivone Leong reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 SLC24A5 Ivone Leong reviewed gene: SLC24A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 OPA3 Ivone Leong reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 OPA1 Ivone Leong reviewed gene: OPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 OCA2 Ivone Leong reviewed gene: OCA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 NR2F1 Ivone Leong reviewed gene: NR2F1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 LRMDA Ivone Leong reviewed gene: LRMDA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL9A2 Ivone Leong reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL9A1 Ivone Leong reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL2A1 Ivone Leong reviewed gene: COL2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 COL11A1 Ivone Leong reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 SEMA4A Ivone Leong reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 RGR Ivone Leong reviewed gene: RGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.160 CA4 Ivone Leong reviewed gene: CA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PAX6 Ivone Leong reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v1.159 GNPTAB Simon Ramsden reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AIRE Robert Henderson reviewed gene: AIRE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IKBKG Robert Henderson reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ZNF513 Gavin Arno reviewed gene: ZNF513: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WT1 Gavin Arno reviewed gene: WT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WFS1 Gavin Arno reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WASF3 Gavin Arno reviewed gene: WASF3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VSX2 Gavin Arno reviewed gene: VSX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VAX1 Gavin Arno reviewed gene: VAX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 UNC119 Gavin Arno reviewed gene: UNC119: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 UBAP1L Gavin Arno reviewed gene: UBAP1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TYRP1 Gavin Arno reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TYR Gavin Arno reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TTC21B Gavin Arno reviewed gene: TTC21B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TPP1 Gavin Arno reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM67 Gavin Arno reviewed gene: TMEM67: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM216 Gavin Arno reviewed gene: TMEM216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM126A Gavin Arno reviewed gene: TMEM126A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TIMM8A Gavin Arno reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TEX28 Gavin Arno reviewed gene: TEX28: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TEAD1 Gavin Arno reviewed gene: TEAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TCTN3 Gavin Arno reviewed gene: TCTN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TCTN2 Gavin Arno reviewed gene: TCTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TCTN1 Gavin Arno reviewed gene: TCTN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 STRA6 Gavin Arno reviewed gene: STRA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SPG7 Gavin Arno reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SOX2 Gavin Arno reviewed gene: SOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SMOC1 Gavin Arno reviewed gene: SMOC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC7A14 Gavin Arno reviewed gene: SLC7A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC45A2 Gavin Arno reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC37A3 Gavin Arno reviewed gene: SLC37A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC24A5 Gavin Arno reviewed gene: SLC24A5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ROM1 Gavin Arno reviewed gene: ROM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RIMS1 Gavin Arno reviewed gene: RIMS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RGS9BP Gavin Arno reviewed gene: RGS9BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RB1 Gavin Arno reviewed gene: RB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRTFDC1 Gavin Arno reviewed gene: PRTFDC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PPT1 Gavin Arno reviewed gene: PPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 POMZP3 Gavin Arno reviewed gene: POMZP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PODNL1 Gavin Arno reviewed gene: PODNL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PLD4 Gavin Arno reviewed gene: PLD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PITX3 Gavin Arno reviewed gene: PITX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PITX2 Gavin Arno reviewed gene: PITX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PITPNM3 Gavin Arno reviewed gene: PITPNM3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDZD7 Gavin Arno reviewed gene: PDZD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6H Gavin Arno reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDAP1 Gavin Arno reviewed gene: PDAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PAX6 Gavin Arno reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 P3H2 Gavin Arno reviewed gene: P3H2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OR2M7 Gavin Arno reviewed gene: OR2M7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPN1MW Gavin Arno reviewed gene: OPN1MW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPN1LW Gavin Arno reviewed gene: OPN1LW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPA3 Gavin Arno reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OPA1 Gavin Arno reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OCA2 Gavin Arno reviewed gene: OCA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NUMB Gavin Arno reviewed gene: NUMB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NR2F1 Gavin Arno reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NEK2 Gavin Arno reviewed gene: NEK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NAALADL1 Gavin Arno reviewed gene: NAALADL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MYOC Gavin Arno reviewed gene: MYOC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MVK Gavin Arno reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MTTP Gavin Arno reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-TL1 Gavin Arno reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ND6 Gavin Arno reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ND4 Gavin Arno reviewed gene: MT-ND4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ND1 Gavin Arno reviewed gene: MT-ND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MT-ATP6 Gavin Arno reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MFN2 Gavin Arno reviewed gene: MFN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRMDA Gavin Arno reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIZ Gavin Arno reviewed gene: KIZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIF7 Gavin Arno reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KCTD7 Gavin Arno reviewed gene: KCTD7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ITM2B Gavin Arno reviewed gene: ITM2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ITIH2 Gavin Arno reviewed gene: ITIH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IRX5 Gavin Arno reviewed gene: IRX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 INVS Gavin Arno reviewed gene: INVS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HTRA1 Gavin Arno reviewed gene: HTRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HMCN1 Gavin Arno reviewed gene: HMCN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HCCS Gavin Arno reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRN Gavin Arno reviewed gene: GRN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRIP1 Gavin Arno reviewed gene: GRIP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GP1BA Gavin Arno reviewed gene: GP1BA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GDF6 Gavin Arno reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FUT5 Gavin Arno reviewed gene: FUT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FSCN2 Gavin Arno reviewed gene: FSCN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FREM2 Gavin Arno reviewed gene: FREM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FREM1 Gavin Arno reviewed gene: FREM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FRAS1 Gavin Arno reviewed gene: FRAS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FOXI2 Gavin Arno reviewed gene: FOXI2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FOXE3 Gavin Arno reviewed gene: FOXE3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FOXC1 Gavin Arno reviewed gene: FOXC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FBLN5 Gavin Arno reviewed gene: FBLN5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FAM71A Gavin Arno reviewed gene: FAM71A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FAM57B Gavin Arno reviewed gene: FAM57B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 EMC1 Gavin Arno reviewed gene: EMC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 DTHD1 Gavin Arno reviewed gene: DTHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 DHX38 Gavin Arno reviewed gene: DHX38: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP27A1 Gavin Arno reviewed gene: CYP27A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP1B1 Gavin Arno reviewed gene: CYP1B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CUBN Gavin Arno reviewed gene: CUBN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CTSD Gavin Arno reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CROCC Gavin Arno reviewed gene: CROCC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL9A2 Gavin Arno reviewed gene: COL9A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL9A1 Gavin Arno reviewed gene: COL9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL2A1 Gavin Arno reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL18A1 Gavin Arno reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL11A2 Gavin Arno reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL11A1 Gavin Arno reviewed gene: COL11A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN8 Gavin Arno reviewed gene: CLN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN6 Gavin Arno reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN5 Gavin Arno reviewed gene: CLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CFB Gavin Arno reviewed gene: CFB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP41 Gavin Arno reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CCZ1B Gavin Arno reviewed gene: CCZ1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C5orf42 Gavin Arno reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C3 Gavin Arno reviewed gene: C3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C2 Gavin Arno reviewed gene: C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BMP4 Gavin Arno reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BCOR Gavin Arno reviewed gene: BCOR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBIP1 Gavin Arno reviewed gene: BBIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 B3GLCT Gavin Arno reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ATP13A2 Gavin Arno reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARMS2 Gavin Arno reviewed gene: ARMS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARL13B Gavin Arno reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AMN Gavin Arno reviewed gene: AMN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADGRA3 Gavin Arno reviewed gene: ADGRA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ACBD5 Gavin Arno reviewed gene: ACBD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HK1 Gavin Arno reviewed gene: HK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP2R1 Gavin Arno reviewed gene: CYP2R1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SEMA4A Gavin Arno commented on gene: SEMA4A: p.Arg713Gln is too common to cause adCORD. The other missense vriants reported in the paper are rare, although the gene has never been convincingly validated - remove?
Retinal disorders v1.159 RP1L1 Gavin Arno reviewed gene: RP1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 RGR Gavin Arno reviewed gene: RGR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ABCA4 Gavin Arno reviewed gene: ABCA4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.159 CA4 Gavin Arno reviewed gene: CA4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SRD5A3 Robert Henderson reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CWC27 Simon Ramsden reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TTLL5 Gavin Arno reviewed gene: TTLL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RCBTB1 Gavin Arno reviewed gene: RCBTB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 POC1B Gavin Arno reviewed gene: POC1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MFSD8 Gavin Arno reviewed gene: MFSD8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRP2 Gavin Arno reviewed gene: LRP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIAA1549 Gavin Arno reviewed gene: KIAA1549: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CACNA2D4 Gavin Arno reviewed gene: CACNA2D4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CFH Gavin Arno reviewed gene: CFH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ZNF423 Gavin Arno reviewed gene: ZNF423: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ZNF408 Gavin Arno reviewed gene: ZNF408: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WDR19 Gavin Arno reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WDPCP Gavin Arno reviewed gene: WDPCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VPS13B Gavin Arno reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 VCAN Gavin Arno reviewed gene: VCAN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 USH2A Gavin Arno reviewed gene: USH2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 USH1G Gavin Arno reviewed gene: USH1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 USH1C Gavin Arno reviewed gene: USH1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TULP1 Gavin Arno reviewed gene: TULP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TUB Gavin Arno reviewed gene: TUB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TTC8 Gavin Arno reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TSPAN12 Gavin Arno reviewed gene: TSPAN12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TRPM1 Gavin Arno reviewed gene: TRPM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TRIM32 Gavin Arno reviewed gene: TRIM32: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TOPORS Gavin Arno reviewed gene: TOPORS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TMEM237 Gavin Arno reviewed gene: TMEM237: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 TIMP3 Gavin Arno reviewed gene: TIMP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SPATA7 Gavin Arno reviewed gene: SPATA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SNRNP200 Gavin Arno reviewed gene: SNRNP200: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC38A8 Gavin Arno reviewed gene: SLC38A8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SLC24A1 Gavin Arno reviewed gene: SLC24A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SDCCAG8 Gavin Arno reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SCAPER Gavin Arno reviewed gene: SCAPER: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 SAG Gavin Arno reviewed gene: SAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RS1 Gavin Arno reviewed gene: RS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RPGRIP1L Gavin Arno reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RPGRIP1 Gavin Arno reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RPGR Gavin Arno reviewed gene: RPGR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RPE65 Gavin Arno reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RP9 Gavin Arno reviewed gene: RP9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RP2 Gavin Arno reviewed gene: RP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RP1 Gavin Arno reviewed gene: RP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RLBP1 Gavin Arno reviewed gene: RLBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RHO Gavin Arno reviewed gene: RHO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RGS9 Gavin Arno reviewed gene: RGS9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RDH5 Gavin Arno reviewed gene: RDH5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RDH12 Gavin Arno reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RD3 Gavin Arno reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RBP4 Gavin Arno reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RBP3 Gavin Arno reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RAX2 Gavin Arno reviewed gene: RAX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 RAB28 Gavin Arno reviewed gene: RAB28: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPS1 Gavin Arno reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPH2 Gavin Arno reviewed gene: PRPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF8 Gavin Arno reviewed gene: PRPF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF6 Gavin Arno reviewed gene: PRPF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF4 Gavin Arno reviewed gene: PRPF4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF31 Gavin Arno reviewed gene: PRPF31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRPF3 Gavin Arno reviewed gene: PRPF3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PROM1 Gavin Arno reviewed gene: PROM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PRCD Gavin Arno reviewed gene: PRCD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PLA2G5 Gavin Arno reviewed gene: PLA2G5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PHYH Gavin Arno reviewed gene: PHYH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PEX7 Gavin Arno reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PEX2 Gavin Arno reviewed gene: PEX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PEX1 Gavin Arno reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6G Gavin Arno reviewed gene: PDE6G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6C Gavin Arno reviewed gene: PDE6C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6B Gavin Arno reviewed gene: PDE6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PDE6A Gavin Arno reviewed gene: PDE6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PCYT1A Gavin Arno reviewed gene: PCYT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PCDH15 Gavin Arno reviewed gene: PCDH15: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 PANK2 Gavin Arno reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OTX2 Gavin Arno reviewed gene: OTX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OFD1 Gavin Arno reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 OAT Gavin Arno reviewed gene: OAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NYX Gavin Arno reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NRL Gavin Arno reviewed gene: NRL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NR2E3 Gavin Arno reviewed gene: NR2E3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NPHP4 Gavin Arno reviewed gene: NPHP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NPHP3 Gavin Arno reviewed gene: NPHP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NPHP1 Gavin Arno reviewed gene: NPHP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NMNAT1 Gavin Arno reviewed gene: NMNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 NDP Gavin Arno reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MYO7A Gavin Arno reviewed gene: MYO7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MKS1 Gavin Arno reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MKKS Gavin Arno reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MFRP Gavin Arno reviewed gene: MFRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MERTK Gavin Arno reviewed gene: MERTK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 MAK Gavin Arno reviewed gene: MAK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LZTFL1 Gavin Arno reviewed gene: LZTFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRP5 Gavin Arno reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRIT3 Gavin Arno reviewed gene: LRIT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LRAT Gavin Arno reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 LCA5 Gavin Arno reviewed gene: LCA5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KLHL7 Gavin Arno reviewed gene: KLHL7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KIF11 Gavin Arno reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KCNV2 Gavin Arno reviewed gene: KCNV2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 KCNJ13 Gavin Arno reviewed gene: KCNJ13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IQCB1 Gavin Arno reviewed gene: IQCB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 INPP5E Gavin Arno reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IMPG2 Gavin Arno reviewed gene: IMPG2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IMPG1 Gavin Arno reviewed gene: IMPG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IMPDH1 Gavin Arno reviewed gene: IMPDH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IFT140 Gavin Arno reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 IDH3B Gavin Arno reviewed gene: IDH3B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HMX1 Gavin Arno reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HGSNAT Gavin Arno reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 HARS Gavin Arno reviewed gene: HARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GUCY2D Gavin Arno reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GUCA1B Gavin Arno reviewed gene: GUCA1B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GUCA1A Gavin Arno reviewed gene: GUCA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRM6 Gavin Arno reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GRK1 Gavin Arno reviewed gene: GRK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GPR179 Gavin Arno reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GPR143 Gavin Arno reviewed gene: GPR143: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GNPTG Gavin Arno reviewed gene: GNPTG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GNAT2 Gavin Arno reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 GNAT1 Gavin Arno reviewed gene: GNAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FZD4 Gavin Arno reviewed gene: FZD4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FLVCR1 Gavin Arno reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 FAM161A Gavin Arno reviewed gene: FAM161A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 EYS Gavin Arno reviewed gene: EYS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ERCC8 Gavin Arno reviewed gene: ERCC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ERCC6 Gavin Arno reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ELOVL4 Gavin Arno reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 EFEMP1 Gavin Arno reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 DHDDS Gavin Arno reviewed gene: DHDDS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CYP4V2 Gavin Arno reviewed gene: CYP4V2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CTNNB1 Gavin Arno reviewed gene: CTNNB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CSPP1 Gavin Arno reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CRX Gavin Arno reviewed gene: CRX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CRB1 Gavin Arno reviewed gene: CRB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 COL4A1 Gavin Arno reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNNM4 Gavin Arno reviewed gene: CNNM4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNGB3 Gavin Arno reviewed gene: CNGB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNGB1 Gavin Arno reviewed gene: CNGB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNGA3 Gavin Arno reviewed gene: CNGA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CNGA1 Gavin Arno reviewed gene: CNGA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLRN1 Gavin Arno reviewed gene: CLRN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CLN3 Gavin Arno reviewed gene: CLN3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CIB2 Gavin Arno reviewed gene: CIB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CHM Gavin Arno reviewed gene: CHM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CERKL Gavin Arno reviewed gene: CERKL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP78 Gavin Arno reviewed gene: CEP78: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP290 Gavin Arno reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CEP164 Gavin Arno reviewed gene: CEP164: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CDHR1 Gavin Arno reviewed gene: CDHR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CDH3 Gavin Arno reviewed gene: CDH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CDH23 Gavin Arno reviewed gene: CDH23: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CC2D2A Gavin Arno reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CAPN5 Gavin Arno reviewed gene: CAPN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CACNA1F Gavin Arno reviewed gene: CACNA1F: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 CABP4 Gavin Arno reviewed gene: CABP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C8orf37 Gavin Arno reviewed gene: C8orf37: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C2orf71 Gavin Arno reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C21orf2 Gavin Arno reviewed gene: C21orf2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 C1QTNF5 Gavin Arno reviewed gene: C1QTNF5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BEST1 Gavin Arno reviewed gene: BEST1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS9 Gavin Arno reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS7 Gavin Arno reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS5 Gavin Arno reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS4 Gavin Arno reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS2 Gavin Arno reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS12 Gavin Arno reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS10 Gavin Arno reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 BBS1 Gavin Arno reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ATOH7 Gavin Arno reviewed gene: ATOH7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ATF6 Gavin Arno reviewed gene: ATF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARL6 Gavin Arno reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARL2BP Gavin Arno reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ARHGEF18 Gavin Arno reviewed gene: ARHGEF18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ALMS1 Gavin Arno reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AIPL1 Gavin Arno reviewed gene: AIPL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AHI1 Gavin Arno reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 AGBL5 Gavin Arno reviewed gene: AGBL5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADGRV1 Gavin Arno reviewed gene: ADGRV1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADAMTS18 Gavin Arno reviewed gene: ADAMTS18: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ADAM9 Gavin Arno reviewed gene: ADAM9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ACO2 Gavin Arno reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 ABHD12 Gavin Arno reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.159 WHRN Gavin Arno reviewed gene: WHRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.158 GNPTAB Ivone Leong gene: GNPTAB was added
gene: GNPTAB was added to Retinal disorders. Sources: NHS GMS
Mode of inheritance for gene: GNPTAB was set to
Retinal disorders v1.158 AIRE Ivone Leong gene: AIRE was added
gene: AIRE was added to Retinal disorders. Sources: NHS GMS
Mode of inheritance for gene: AIRE was set to
Retinal disorders v1.158 IKBKG Ivone Leong gene: IKBKG was added
gene: IKBKG was added to Retinal disorders. Sources: NHS GMS
Mode of inheritance for gene: IKBKG was set to
Retinal disorders v1.158 SEMA4A Ivone Leong Source Expert Review Amber was added to SEMA4A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Retinal disorders v1.158 RGR Ivone Leong Source Expert Review Amber was added to RGR.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Retinal disorders v1.158 CA4 Ivone Leong Source Expert Review Amber was added to CA4.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Renal tubulopathies v1.82 CYP24A1 Eleanor Williams commented on gene: CYP24A1: Associated with Hypercalcemia, infantile, 1 143880 in OMIM.

PMID: 21675912 - Schlingmann et al 2011 - from OMIM - In 7 patients from 8 unrelated families with infantile hypercalcemia-1 they identified homozygosity or compound heterozygosity for mutations in the CYP24A1 gene. In 1 patient, a heterozygous complex deletion in CYP24A1 was identified, but no other mutation was detected by sequence analysis.

PMID: 22047572 - Streeten et al 2011 - from OMIM- 47-year-old man who had an episode of nephrolithiasis at 19 years of age and was subsequently asymptomatic until hypercalcemia was discovered on routine testing at 39 years of age, Streeten et al. identified homozygosity for a 3-bp deletion in the CYP24A1 gene.
Renal tubulopathies v1.82 CUL3 Eleanor Williams commented on gene: CUL3: Associated with Pseudohypoaldosteronism, type IIE 614496 in OMIM

PMID: 22266938 - Boyden et al 2012 - used exome sequencing to study a cohort of 52 PHAII kindreds, including 126 affected subjects with renal hyperkalemia. They identified seventeen with novel heterozygous mutations, all in cases without KLHL3, WNK1 or WNK4 mutations. Eight of these mutations were documented to be de novo.
Renal tubulopathies v1.82 CLDN19 Eleanor Williams commented on gene: CLDN19: Associated with Hypomagnesemia 5, renal, with ocular involvement 248190 in OMIM.

Many cases reported in OMIM.
Renal tubulopathies v1.82 CLDN16 Eleanor Williams commented on gene: CLDN16: Associated with Hypomagnesemia 3, renal 248250 in OMIM.
Previous gene symbol of PCLN1.

Many cases reported in OMIM.
Renal tubulopathies v1.82 CLDN10 Eleanor Williams changed review comment from: Associated with HELIX syndrome 617671 in OMIM. This disorder is characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis.

PMID: 28674042 - Bongers et al 2017 - characterized CLDN10 mutations in two unrelated patients with a hypokalemic-alkalotic salt-losing nephropathy. In both compound heterozygous variants were found [c.446C>G (p.Pro149Arg) and c.465-1G>A (p.Glu157_Tyr192del)] and [c.446C>G (p.(Pro149Arg) and c.217G>A (p.Asp73Asn)]. Variants segregated with the disorder in both families. The identified CLDN10 sequence variants were not reported in the Exome Aggregation Consortium database.

PMID: 19307729 - paper unrelated to CLDN10; to: Associated with HELIX syndrome 617671 in OMIM. This disorder is characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis. 3 cases reported in OMIM.

PMID: 28674042 - Bongers et al 2017 - characterized CLDN10 mutations in two unrelated patients with a hypokalemic-alkalotic salt-losing nephropathy. In both compound heterozygous variants were found [c.446C>G (p.Pro149Arg) and c.465-1G>A (p.Glu157_Tyr192del)] and [c.446C>G (p.(Pro149Arg) and c.217G>A (p.Asp73Asn)]. Variants segregated with the disorder in both families. The identified CLDN10 sequence variants were not reported in the Exome Aggregation Consortium database.

PMID: 19307729 - paper unrelated to CLDN10
Renal tubulopathies v1.82 CLDN10 Eleanor Williams edited their review of gene: CLDN10: Added comment: Associated with HELIX syndrome 617671 in OMIM. This disorder is characterized by congenital heat intolerance, generalized anhidrosis, inability to produce tears, dry mouth, electrolyte imbalance, and ichthyosis.

PMID: 28674042 - Bongers et al 2017 - characterized CLDN10 mutations in two unrelated patients with a hypokalemic-alkalotic salt-losing nephropathy. In both compound heterozygous variants were found [c.446C>G (p.Pro149Arg) and c.465-1G>A (p.Glu157_Tyr192del)] and [c.446C>G (p.(Pro149Arg) and c.217G>A (p.Asp73Asn)]. Variants segregated with the disorder in both families. The identified CLDN10 sequence variants were not reported in the Exome Aggregation Consortium database.

PMID: 19307729 - paper unrelated to CLDN10; Changed phenotypes: Hypokalemic-alkalotic salt-losing tubulopathy (no OMIM number), HELIX syndrome, MIM 617671
Thoracic aortic aneurysm or dissection (GMS) v0.10 PLOD1 Ellen McDonagh Marked gene: PLOD1 as ready
Thoracic aortic aneurysm or dissection (GMS) v0.10 PLOD1 Ellen McDonagh Gene: plod1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.10 PLOD1 Ellen McDonagh Classified gene: PLOD1 as Red List (low evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.10 PLOD1 Ellen McDonagh Added comment: Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).
Thoracic aortic aneurysm or dissection (GMS) v0.10 PLOD1 Ellen McDonagh Gene: plod1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.9 COL1A1 Ellen McDonagh Marked gene: COL1A1 as ready
Thoracic aortic aneurysm or dissection (GMS) v0.9 COL1A1 Ellen McDonagh Gene: col1a1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.9 COL1A1 Ellen McDonagh Classified gene: COL1A1 as Red List (low evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.9 COL1A1 Ellen McDonagh Added comment: Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).
Thoracic aortic aneurysm or dissection (GMS) v0.9 COL1A1 Ellen McDonagh Gene: col1a1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.8 COL5A2 Ellen McDonagh Marked gene: COL5A2 as ready
Thoracic aortic aneurysm or dissection (GMS) v0.8 COL5A2 Ellen McDonagh Gene: col5a2 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.8 COL5A2 Ellen McDonagh Classified gene: COL5A2 as Red List (low evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.8 COL5A2 Ellen McDonagh Added comment: Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).
Thoracic aortic aneurysm or dissection (GMS) v0.8 COL5A2 Ellen McDonagh Gene: col5a2 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.7 COL5A1 Ellen McDonagh Marked gene: COL5A1 as ready
Thoracic aortic aneurysm or dissection (GMS) v0.7 COL5A1 Ellen McDonagh Gene: col5a1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.7 COL5A1 Ellen McDonagh Classified gene: COL5A1 as Red List (low evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.7 COL5A1 Ellen McDonagh Added comment: Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).
Thoracic aortic aneurysm or dissection (GMS) v0.7 COL5A1 Ellen McDonagh Gene: col5a1 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.6 COL1A2 Ellen McDonagh Marked gene: COL1A2 as ready
Thoracic aortic aneurysm or dissection (GMS) v0.6 COL1A2 Ellen McDonagh Gene: col1a2 has been classified as Red List (Low Evidence).
Thoracic aortic aneurysm or dissection (GMS) v0.6 COL1A2 Ellen McDonagh Classified gene: COL1A2 as Red List (low evidence)
Thoracic aortic aneurysm or dissection (GMS) v0.6 COL1A2 Ellen McDonagh Added comment: Comment on list classification: Demoted from Amber to Red, after confirmation with the GMS Cardiology specialist disease group in a meeting in July 2019 that EDS genes should not be included, except vascular EDS (the COL3A1 should remain Green).
Thoracic aortic aneurysm or dissection (GMS) v0.6 COL1A2 Ellen McDonagh Gene: col1a2 has been classified as Red List (Low Evidence).
Primary lymphoedema v1.113 DCHS1 Ellen McDonagh Marked gene: DCHS1 as ready
Primary lymphoedema v1.113 DCHS1 Ellen McDonagh Gene: dchs1 has been classified as Amber List (Moderate Evidence).
Renal tubulopathies v1.82 CLCNKA Eleanor Williams commented on gene: CLCNKA: Associated with Bartter syndrome, type 4b, digenic (#613090) in OMIM.

PMID: 15044642 - Schlingmann et al 2004 - in a child with a child with renal salt wasting and deafness, they identified both a homozygous deletion of the CLCNKB gene and a homozygous trp80-to-cys mutation in the CLCNKA gene (W80C).

Nozu et al 2008 - 2-year-old Japanese girl with a severe form of Bartter syndrome with sensorineural deafness. Parents were nonconsanguineous. They found 2 heterozygous mutations in the CLCNKA and CLCNKB genes on the paternal allele, and a 12-kb deletion involving portions of the CLCNKA and CLCNKB genes on the maternal allele. Neither parent was clinically affected.
Renal tubulopathies v1.82 CLCN5 Eleanor Williams commented on gene: CLCN5: Associated with Dent disease (#300009), Hypophosphatemic rickets (#300554), Nephrolithiasis, type I (#310468) and Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis (#308990) in OMIM.

Many cases reported in OMIM.
Renal tubulopathies v1.82 CASR Eleanor Williams commented on gene: CASR: Associated with Hyperparathyroidism, neonatal (#239200), Hypocalcemia, autosomal dominant (#601198), Hypocalcemia, autosomal dominant, with Bartter syndrome (#601198) and Hypocalciuric hypercalcemia, type I (#145980) in OMIM.

Many cases reported in OMIM.
Renal tubulopathies v1.82 ATP1A1 Eleanor Williams commented on gene: ATP1A1: Associated with Hypomagnesemia, seizures, and mental retardation 2 (#618314) in OMIM.

PMID: 30388404 - Schlingmann et al 2018 - describe 3 unrelated infants who are from non-consanguineous families and who presented with a disease phenotype consisting of generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Whole-exome sequencing and conventional Sanger sequencing identified heterozygous de novo mutations in ATP1A1 (p.Leu302Arg, p.Gly303Arg, p.Met859Arg). Functional studies show the critical role of the α1 subunit of Na+, K+-ATPase for the maintenance of ionic gradients, the generation of resting membrane potential, and the termination of neuronal activity in the central nervous system
Renal tubulopathies v1.82 AP2S1 Eleanor Williams commented on gene: AP2S1: Associated with Hypocalciuric hypercalcemia, type III (#600740) in OMIM.

PMID: 23222959 - Nesbit et al 2013 - in 2 unrelated 3-generation families segregating autosomal dominant hypocalciuric hypercalcemia they identified a heterozygous missense mutation in the AP2S1 gene (R15C). DNA sequence analysis of the 5 exons and 8 intron-exon boundaries of AP2S1 of a further 50 unrelated patients in whom CaSR mutations had been excluded, found a further 11 probands from 10 families, with missense heterozygous mutations, consistent with autosomal dominant inheritance of familial hypocalciuric hypercalcemia type 3, that all affected Arg15.
Retinal disorders v1.157 RP1L1 Ivone Leong Added comment: Comment on mode of inheritance: Changed from monoallelic to biallelic as monoallelic is associated with Occult macular dystrophy and biallelic is associated with retinitis pigmentosa.
Retinal disorders v1.157 RP1L1 Ivone Leong Mode of inheritance for gene: RP1L1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Thoracic aortic aneurysm or dissection (GMS) v0.5 COL3A1 Alison Callaway reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 FBN1 Alison Callaway reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, Ectopia lentis; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 ACTA2 Alison Callaway reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 MYH11 Alison Callaway reviewed gene: MYH11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 4; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 SMAD3 Alison Callaway reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 SMAD3 Alison Callaway Deleted their review
Thoracic aortic aneurysm or dissection (GMS) v0.5 SMAD3 Alison Callaway Deleted their comment
Thoracic aortic aneurysm or dissection (GMS) v0.5 SMAD3 Alison Callaway reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thoracic aortic aneurysm or dissection (GMS) v0.5 TGFBR2 Alison Callaway reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 TGFBR1 Alison Callaway reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 TGFB2 Alison Callaway reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 COL1A2 Alison Callaway changed review comment from: On Wessex aortopathy panel; to date, no pathogenic or likely pathogenic variants have been detected in cases referred for this panel.
Associated with EDS (arthrochalasia type) OMIM #130060 and OI (OMIM #166200,166210, 259420, 166220).; to: On Wessex aortopathy panel; to date, no pathogenic or likely pathogenic variants have been detected in cases referred for this panel.
Associated with EDS (arthrochalasia type) OMIM #617821 and OI (OMIM #166210, 259420, 166220) and recessive EDS (cardiac valvular type)
Thoracic aortic aneurysm or dissection (GMS) v0.5 COL1A1 Alison Callaway changed review comment from: Associated with EDS and OI, which overlap with TAAD.
Present on Wessex aortopathy panel, pathogenic variants have been detected in patients referred with OI, but no pathogenic or likely pathogenic variants have been detected in patients referred specifically for aortopathy (without other COL1A1 specific syndromic features e.g. OI).; to: Present on Wessex aortopathy panel, pathogenic variants have been detected in patients referred with OI, but no pathogenic or likely pathogenic variants have been detected in patients referred specifically for aortopathy (without other COL1A1 specific syndromic features e.g. OI). Associated with EDS (arthrochalasia type) OMIM #130060 and OI (OMIM #166200,166210, 259420, 166220).
Thoracic aortic aneurysm or dissection (GMS) v0.5 COL1A1 Alison Callaway reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 COL1A2 Alison Callaway reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 COL5A1 Alison Callaway reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic Ehlers-Danlos syndrome type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 COL5A2 Alison Callaway reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic Ehlers-Danlos syndrome type 2; Mode of inheritance: None; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 FBN2 Alison Callaway reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital contractural arachnodactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 SLC2A10 Alison Callaway reviewed gene: SLC2A10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Thoracic aortic aneurysm or dissection (GMS) v0.5 SMAD4 Alison Callaway reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24424121, 25931195; Phenotypes: Myhre syndrome; Mode of inheritance: None
Thoracic aortic aneurysm or dissection (GMS) v0.5 TGFB3 Alison Callaway reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: LOEYS-DIETZ SYNDROME; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Retinal disorders v1.156 OPN1MW Ivone Leong Phenotypes for gene: OPN1MW were changed from to Blue cone monochromacy, 303700
Retinal disorders v1.155 OPN1MW Ivone Leong Mode of inheritance for gene: OPN1MW was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Retinal disorders v1.154 OPN1LW Ivone Leong Publications for gene: OPN1LW were set to
Retinal disorders v1.153 OPN1LW Ivone Leong Classified gene: OPN1LW as Green List (high evidence)
Retinal disorders v1.153 OPN1LW Ivone Leong Added comment: Comment on list classification: Promoted from red to green. This gene is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases reported on OMIM; therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.153 OPN1LW Ivone Leong Gene: opn1lw has been classified as Green List (High Evidence).
Retinal disorders v1.152 OPN1LW Ivone Leong Phenotypes for gene: OPN1LW were changed from to Blue cone monochromacy, 303700
Retinal disorders v1.151 OPN1LW Ivone Leong Mode of inheritance for gene: OPN1LW was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Early onset or syndromic epilepsy v1.260 GABBR2 Rebecca Foulger Phenotypes for gene: GABBR2 were changed from EPILEPTIC ENCEPHALOPATHY; Rett syndrome to EPILEPTIC ENCEPHALOPATHY; Rett syndrome; Epileptic encephalopathy, early infantile, 59, 617904
Intellectual disability v2.1021 GABBR2 Rebecca Foulger commented on gene: GABBR2: Added missense tag: only missense variants (A707T and A567T) reported so far in the literature.
Intellectual disability v2.1021 GABBR2 Rebecca Foulger Tag missense tag was added to gene: GABBR2.
Intellectual disability v2.1021 GABBR2 Rebecca Foulger Classified gene: GABBR2 as Green List (high evidence)
Intellectual disability v2.1021 GABBR2 Rebecca Foulger Added comment: Comment on list classification: Updated gene from Amber to Green: As noted by Konstantinos Varvagiannis, an additional 2018 study has been published associating a new GABBR2 variant (A707T) with a RETT-like phenotype including intellectual impairment (PMID:29369404). This adds to the previous papers documenting the recurring p.Ala567Thr variant in RETT-like patients from Portugal (PMID:26740508) and Korea (PMID:28856709). Plus OMIM has been updated since the Dec 2017 curation to include neurodevelopmental disorder MIM:617904. Thirdly, email correspondence from J. Evans notes a patient with a relevant phenotype and a previously-published pathogenic variant in GABBR2. Therefore sufficient unrelated cases to support a Green rating.
Intellectual disability v2.1021 GABBR2 Rebecca Foulger Gene: gabbr2 has been classified as Green List (High Evidence).
Intellectual disability v2.1020 GABBR2 Rebecca Foulger commented on gene: GABBR2
Intellectual disability v2.1020 GABBR2 Rebecca Foulger Phenotypes for gene: GABBR2 were changed from EPILEPTIC ENCEPHALOPATHY; Rett syndrome to EPILEPTIC ENCEPHALOPATHY; Rett syndrome; Neurodevelopmental disorder with poor language and loss of hand skills, 617903
Intellectual disability v2.1019 GABBR2 Rebecca Foulger Publications for gene: GABBR2 were set to 29100083; 28061363; 28135719; 28856709
Retinal disorders v1.150 PDE6H Ivone Leong Publications for gene: PDE6H were set to 15629837
Retinal disorders v1.149 PDE6H Ivone Leong edited their review of gene: PDE6H: Added comment: PMID: 22901948 reported on 3 patients from 2 unrelated families (Dutch and Belgium) who have incomplete achromatopsia who also have the same variant in PDE6H (missense variant the causes a premature termination). Haplotype analysis for this region suggested that the variant may be from a founder effect.

PMID: 25739440 reported on a Pde6h knockout mouse model. However, the model failed to replicate the human phenotype as it appears that the mouse showed normal retinal tissue. The authors suggest "species-to-species differences in the vulnerability of biochemical and neurosensory pathways of the visual signal transduction system".

Taken together with my previous review, there is still currently not enough evidence to promote this gene to green status.; Changed rating: AMBER; Changed publications: 22901948, 25739440; Changed phenotypes: Achromatopsia 6, 610024
Thoracic aortic aneurysm or dissection (GMS) v0.5 CBS Alison Callaway reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Bilateral congenital or childhood onset cataracts v1.32 RIC1 Ivone Leong Tag founder-effect tag was added to gene: RIC1.
Monogenic hearing loss v2.1 Eleanor Williams Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
Intellectual disability v2.1018 GOT2 Catherine Snow Tag treatable tag was added to gene: GOT2.
Tag watchlist tag was added to gene: GOT2.
Intellectual disability v2.1018 GOT2 Catherine Snow Classified gene: GOT2 as Amber List (moderate evidence)
Intellectual disability v2.1018 GOT2 Catherine Snow Gene: got2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.1017 GOT2 Catherine Snow reviewed gene: GOT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31422819; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.259 GOT2 Catherine Snow Tag treatable tag was added to gene: GOT2.
Tag watchlist tag was added to gene: GOT2.
Early onset or syndromic epilepsy v1.259 GOT2 Catherine Snow Classified gene: GOT2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.259 GOT2 Catherine Snow Gene: got2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.258 GOT2 Catherine Snow reviewed gene: GOT2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31422819; Phenotypes: Global developmental delay, Intellectual disability, Seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Bilateral congenital or childhood onset cataracts v1.32 TAPT1 Ivone Leong changed review comment from: TAPT1 is associated with a phenotype on OMIM and Gene2Phenotype; however this phenotype is not associated with any eye phenotype. It is a green gene on the Fetal anomalies panel (code 478, version 0.339) PMID: 27878435 reported a consanguineous family with a splice site variant that caused a frameshift mutation. The same paper also performed mouse studies and found that the gene is down regulated in key gene knockout mice with lens defects. Therefore, there is currently not enough evidence for this gene to be promoted to green status.; to: TAPT1 is associated with a phenotype on OMIM and Gene2Phenotype; however this phenotype is not associated with the eyes. It is a green gene on the Fetal anomalies panel (code 478, version 0.339). PMID: 27878435 reported a consanguineous family with a splice site variant that caused a frameshift mutation. The same paper also performed mouse studies and found that the gene is down regulated in key gene knockout mice with lens defects. Therefore, there is currently not enough evidence for this gene to be promoted to green status.
Bilateral congenital or childhood onset cataracts v1.32 EIF2B2 Ivone Leong changed review comment from: EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71). There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.; to: EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71).
There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.
Bilateral congenital or childhood onset cataracts v1.32 WFS1 Ivone Leong changed review comment from: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.; to: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants in this gene. There is enough evidence for this gene to be green.
Bilateral congenital or childhood onset cataracts v1.32 WFS1 Ivone Leong changed review comment from: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.; to: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.
Bilateral congenital or childhood onset cataracts v1.32 RIC1 Ivone Leong reviewed gene: RIC1: Rating: RED; Mode of pathogenicity: ; Publications: 27878435; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.32 LONP1 Ivone Leong reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27878435, 25808063, 26622071, 28148925, 29408517, 25574826; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.32 TAF1A Ivone Leong reviewed gene: TAF1A: Rating: RED; Mode of pathogenicity: ; Publications: 27878435; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.32 TAPT1 Ivone Leong reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27878435; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.32 GEMIN4 Ivone Leong reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 25558065, 27878435; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.32 DYRK1A Ivone Leong edited their review of gene: DYRK1A: Added comment: DYRK1A is associated with a phenotype on OMIM and Gene2Phenotype. It is also a green gene on the ID (code: 285, version 2.1015), Fetal anomalies panel (code: 478, version 0.339), Severe microcephaly (code: 162, version 1.72) and GES (code: 402, version 1.256). PMID: 28053047 analysed approx 4,200 family trios from the DDD study and found 19 patients who have likely pathogenic de novo variants in DYRK1A. All patients have ID and 14 have some sort of eye malformation. However, only 1 of the 14 have bilateral cataracts (missense DYRK1A variant). PMID: 25944381 investigated 14 unrelated individuals with de novo variants in DYRK1A (microdeletions, small indels or SNVs). All individuals have congenital microcephaly at birth, intellectual disability, developmental delay, severe speech impairment, short stature, and distinct facial features. Only 1 patient had cataracts (21q22.13-q22.2 deletion, this region encompasses 30 genes one of which is DYRK1A). Therefore, not enough evidence to be green and rated amber until further evidence is available.; Changed rating: AMBER; Changed publications: 28053047, 25944381
Bilateral congenital or childhood onset cataracts v1.32 KIAA1109 Ivone Leong edited their review of gene: KIAA1109: Added comment: KIAA1109 is associated with a phenotype on OMIM and Gene2Phenotype. It is also a green gene on the Structural eye disease panel (code: 509, version 0.84), ID (code: 285, version 2.1015), Fetal anomalies panel (code: 478, version 0.339) and GES (code: 402, version 1.256). PMID: 29290337 reported on 10 unrelated families who have Alkuraya-Ku?inskas syndrome with biallelic variants in KIAA1109. 2 of 10 families (Chinese and Algerian) with affected members also having congenital cataracts. The same paper also produced a zebrafish model but there was no mention of any eye defects. PMID: 30906834 reported on a non-consanguineous African American family where two siblings had congenital neurological malformation disorder that variably presents with arthrogryposis, craniofacial and/or cardiac abnormalities. The two siblings also had congenital cataracts and were compound heterozygous for variants in this gene. There is enough evidence for this gene to be green on this panel.; Changed publications: 29290337, 30906834
Bilateral congenital or childhood onset cataracts v1.32 AP4B1 Ivone Leong edited their review of gene: AP4B1: Added comment: AP4B1 is associated with an unrelated phenotype on OMIM and Gene2Phenotype. There is only 1 case (PMID: 29430868) so currently there is not enough evidence to promote this gene to green status.; Changed rating: RED; Changed publications: 29430868
Bilateral congenital or childhood onset cataracts v1.32 XYLT2 Ivone Leong edited their review of gene: XYLT2: Added comment: XYLT2 is associated with a phenotype on OMIM and probably associated with a phenotype on Gene2Phenotype. There are >3 unrelated cases of patients with Spondyloocular Syndrome who have cataracts who have different variants in the XYLT2 gene. Therfore, there is enough evidence for this gene to be green.; Changed publications: 26027496, 26987875, 28884924, 30496831, 29136277
Bilateral congenital or childhood onset cataracts v1.32 GLS Ivone Leong edited their review of gene: GLS: Added comment: GLS is associated with a phenotype on OMIM but not on Gene2Phenotype. There is only one published case (PMID: 30239721) who had infantile cataracts who had a heterozygote variant in this gene. The same paper also created a zebrafish model of this variant and it caused cataracts in the fish. However, until more evidence is available this gene will be rated amber.; Changed rating: AMBER; Changed publications: 30239721
Bilateral congenital or childhood onset cataracts v1.32 GTF2H5 Ivone Leong edited their review of gene: GTF2H5: Added comment: GTF2H5 is associated with a phenotype on OMIM and Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and Xeroderma pigmentosum, Trichothiodystrophy or Cockayne syndrome (code: 77, version 1.8). There are 3 unrelated cases (PMID: 24986372; 15220921) of patients with Trichothiodystrophy 3, photosensitive who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.; Changed publications: 24986372, 15220921
Bilateral congenital or childhood onset cataracts v1.32 EIF2B2 Ivone Leong edited their review of gene: EIF2B2: Added comment: EIF2B2 is associated with a phenotype on OMIM but not on Gene2Phenotype. It is also a green gene on the Fetal anomalies panel (code: 478, version 0.339) and inherited white matter disorders (code: 42, version 1.71). There are 3 unrelated cases (PMID: 21484434; 14566705; 28041799) of patients with leukodystrophy vanishing white matter who also have congenital cataracts with different homozygous or compound heterozygous variants in this gene. There is enough evidence for this gene to be green.; Changed publications: 21484434, 14566705, 28041799
Bilateral congenital or childhood onset cataracts v1.32 DNMBP Ivone Leong edited their review of gene: DNMBP: Added comment: DNMBP is associated with a phenotype on OMIM but not on Gene2Phenotype. PMID: 30290152 reported on 3 unrelated consanguineous families from Pakistan where affected family members have congenital cataracts. All three families have different variants. The authors also created a Drosophila knockdown model and showed the mechanism by which DNMBP causes cataracts. There is enough evidence for this gene to be green.; Changed publications: 30290152
Bilateral congenital or childhood onset cataracts v1.32 WFS1 Ivone Leong edited their review of gene: WFS1: Added comment: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.; Changed publications: 28468959, 21067485, 23531866, 21623599, 27217304, 23373429, 27468121, 28271591, 16151413
Bilateral congenital or childhood onset cataracts v1.32 LSS Ivone Leong edited their review of gene: LSS: Added comment: LSS is associated with a phenotype on OMIM but not Gene2Phenotype. There are 3 unrelated cases of children with cataracts who have variants in this gene (PMID: 26200641; 29016354; 16440058). Therefore there is enough evidence for this gene to be green.; Changed publications: 26200641, 29016354, 16440058
Bilateral congenital or childhood onset cataracts v1.31 DYRK1A Ivone Leong reviewed gene: DYRK1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 KIAA1109 Ivone Leong reviewed gene: KIAA1109: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 AP4B1 Ivone Leong reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 XYLT2 Ivone Leong reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 GLS Ivone Leong reviewed gene: GLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 GTF2H5 Ivone Leong reviewed gene: GTF2H5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 EIF2B2 Ivone Leong reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 DNMBP Ivone Leong reviewed gene: DNMBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 WFS1 Ivone Leong reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.31 LSS Ivone Leong reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Bilateral congenital or childhood onset cataracts v1.30 RIC1 Ivone Leong gene: RIC1 was added
gene: RIC1 was added to Cataracts. Sources: Literature,Expert Review Red
Mode of inheritance for gene: RIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIC1 were set to 27878435
Phenotypes for gene: RIC1 were set to Pediatric posterior lenticonus cataract and global developmental delay
Bilateral congenital or childhood onset cataracts v1.30 LONP1 Ivone Leong gene: LONP1 was added
gene: LONP1 was added to Cataracts. Sources: Literature,Expert Review Red
Mode of inheritance for gene: LONP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LONP1 were set to 25574826; 26622071; 27878435; 29408517; 25808063; 28148925
Phenotypes for gene: LONP1 were set to CODAS syndrome, 600373
Bilateral congenital or childhood onset cataracts v1.30 TAF1A Ivone Leong gene: TAF1A was added
gene: TAF1A was added to Cataracts. Sources: Literature,Expert Review Red
Mode of inheritance for gene: TAF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF1A were set to 27878435
Phenotypes for gene: TAF1A were set to Congenital cataract and global developmental delay
Bilateral congenital or childhood onset cataracts v1.30 TAPT1 Ivone Leong gene: TAPT1 was added
gene: TAPT1 was added to Cataracts. Sources: Literature,Expert Review Red
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAPT1 were set to 27878435
Phenotypes for gene: TAPT1 were set to Pediatric posterior lenticonus cataract
Bilateral congenital or childhood onset cataracts v1.30 GEMIN4 Ivone Leong gene: GEMIN4 was added
gene: GEMIN4 was added to Cataracts. Sources: Literature,Expert Review Red
Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN4 were set to 27878435; 25558065
Phenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913
Bilateral congenital or childhood onset cataracts v1.30 DYRK1A Ivone Leong gene: DYRK1A was added
gene: DYRK1A was added to Cataracts. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: DYRK1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DYRK1A were set to 28053047; 25944381
Phenotypes for gene: DYRK1A were set to Mental retardation, autosomal dominant 7, 614104
Bilateral congenital or childhood onset cataracts v1.30 KIAA1109 Ivone Leong gene: KIAA1109 was added
gene: KIAA1109 was added to Cataracts. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA1109 were set to 29290337; 30906834
Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, 617822; Brain atrophy, Dandy Walker and Contractures
Bilateral congenital or childhood onset cataracts v1.30 AP4B1 Ivone Leong gene: AP4B1 was added
gene: AP4B1 was added to Cataracts. Sources: Expert list,Expert Review Red
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to 29430868
Phenotypes for gene: AP4B1 were set to AP-4 deficiency syndrome and ocular anomalies
Bilateral congenital or childhood onset cataracts v1.30 XYLT2 Ivone Leong gene: XYLT2 was added
gene: XYLT2 was added to Cataracts. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XYLT2 were set to 26987875; 26027496; 28884924; 30496831; 29136277
Phenotypes for gene: XYLT2 were set to Spondyloocular syndrome, 605822
Bilateral congenital or childhood onset cataracts v1.30 GLS Ivone Leong gene: GLS was added
gene: GLS was added to Cataracts. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: GLS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GLS were set to 30239721
Phenotypes for gene: GLS were set to ?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, 618339
Bilateral congenital or childhood onset cataracts v1.30 GTF2H5 Ivone Leong gene: GTF2H5 was added
gene: GTF2H5 was added to Cataracts. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTF2H5 were set to 24986372; 15220921
Phenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395
Bilateral congenital or childhood onset cataracts v1.30 EIF2B2 Ivone Leong gene: EIF2B2 was added
gene: EIF2B2 was added to Cataracts. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B2 were set to 28041799; 21484434; 14566705
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896
Bilateral congenital or childhood onset cataracts v1.30 DNMBP Ivone Leong gene: DNMBP was added
gene: DNMBP was added to Cataracts. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: DNMBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNMBP were set to 30290152
Phenotypes for gene: DNMBP were set to Cataract 48, 618415
Bilateral congenital or childhood onset cataracts v1.30 WFS1 Ivone Leong gene: WFS1 was added
gene: WFS1 was added to Cataracts. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: WFS1 were set to 27217304; 21067485; 28468959; 23531866; 21623599; 23373429; 28271591; 16151413; 27468121
Phenotypes for gene: WFS1 were set to ?Cataract 41, 116400
Bilateral congenital or childhood onset cataracts v1.30 LSS Ivone Leong gene: LSS was added
gene: LSS was added to Cataracts. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 16440058; 29016354; 26200641
Phenotypes for gene: LSS were set to Cataract 44, 616509
Bilateral congenital or childhood onset cataracts v1.29 RNLS Ivone Leong Publications for gene: RNLS were set to Aldahmesh (2012) Genet Med 14(12):955-962
Clefting v1.57 FBXO11 Catherine Snow Publications for gene: FBXO11 were set to 30057029; 30679813; 17035249
Clefting v1.57 FBXO11 Catherine Snow Publications for gene: FBXO11 were set to 30057029; 30679813
Clefting v1.56 FBXO11 Catherine Snow edited their review of gene: FBXO11: Added comment: PMID:30057029 reports on 20 individuals with a variable neurodevelopmental disorder all with de novo variants in FBXO11. Three of the individuals had clefting phenotypes. One had a cleft lip (c.1825_ 1829del (p.Glu609*), one had a cleft palate (c.2729A>G (p.Asp910Gly) and one had a bifid uvula (c.1868C>G (p.Thr623Arg)). All individuals had developmental delay.

PMID:30679813 reports on 24 individuals with de novo variants in FBXO11, one individual had a submucosal cleft palate, although the authors feel that this was not related to the phenotype of DD/ID that was found in all the individuals.

PMID:17035249 - A mutation in the F-box gene, Fbxo11 causes otitis media in the Jeff mouse found that homozygous Fbxo11 mutants all have clefting of the hard or soft palate as well as facial clefting. Hetrozygous mouse had no clefting phenotypes.; Changed publications: 30057029, 30679813, 17035249
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.127 ESCO2 Eleanor Williams edited their review of gene: ESCO2: Added comment: Review from Helen Lord:
PMID: 31192177 - Colombo et al 2019 - 2 unrelated children – one Turkish and one Iranian, both patients had craniosynostosis as part of their phenotype. WES on these two trios identified two different homozygous inactivating variants (one splicing and 1 frameshift) in the ESCO2 gene.

Personal communication from Professor Wilkie – seen a case personally (unpublished evidence)

Also
PMID: 19574259 - Vega et al 2010 - provide clinical data for 31 patients from 26 families with proven ESCO2 mutations and combine this series with previously reported clinical and mutation data on 18 cases. Craniosynostosis is NOT mentioned directly in this paper.; Changed publications: 31192177
Intellectual disability v2.1017 GEMIN4 Ivone Leong Classified gene: GEMIN4 as Amber List (moderate evidence)
Intellectual disability v2.1017 GEMIN4 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber based on new evidence. PMID: 27878435 reported on different variant found in a patient with cataracts, global developmental delay and ataxia.
Intellectual disability v2.1017 GEMIN4 Ivone Leong Gene: gemin4 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.1016 GEMIN4 Ivone Leong Publications for gene: GEMIN4 were set to 25558065
Clefting v1.56 FBXO11 Catherine Snow gene: FBXO11 was added
gene: FBXO11 was added to Clefting. Sources: Expert list
Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXO11 were set to 30057029; 30679813
Phenotypes for gene: FBXO11 were set to cleft lip; Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, 618089
Review for gene: FBXO11 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Early onset or syndromic epilepsy v1.258 ALPL Rebecca Foulger changed review comment from: PMID:30979546: Whyte et al., 2019 report Vitamin B6-dependent seizures in 10/38 (26%) of patients: 7 patients had documented seizures and 3 patients had a family hisotry of seizures based upon medical records.; to: PMID:30979546: Whyte et al., 2019 report Vitamin B6-dependent seizures in 10/38 (26%) of patients: 7 patients had documented seizures and 3 patients had a family history of seizures based upon medical records.
Early onset or syndromic epilepsy v1.258 TRRAP Rebecca Foulger Publications for gene: TRRAP were set to 30827496
Early onset or syndromic epilepsy v1.257 TRRAP Rebecca Foulger Added comment: Comment on phenotypes: MIM:603015 is the gene identifier. Therefore updated OMIM phenotype to the disorder identifier (618454) as per Alison Callaway's review.
Early onset or syndromic epilepsy v1.257 TRRAP Rebecca Foulger Phenotypes for gene: TRRAP were changed from Microcephaly; Seizures; Abnormal heart morphology; Autism; Developmental delay with or without dysmorphic facies and autism, 603015; Intellectual disability; Abnormality of the urinary system; Global developmental delay to Microcephaly; Seizures; Abnormal heart morphology; Autism; Developmental delay with or without dysmorphic facies and autism, 618454; Intellectual disability; Abnormality of the urinary system; Global developmental delay
Clefting v1.55 EIF4A3 Catherine Snow Phenotypes for gene: EIF4A3 were changed from Cleft palate to Cleft palate; Robin sequence with cleft mandible and limb anomalies, 268305; Richieri-Costa-Pereira syndrome
Clefting v1.54 EIF4A3 Catherine Snow Publications for gene: EIF4A3 were set to
Clefting v1.53 EIF4A3 Catherine Snow Classified gene: EIF4A3 as Green List (high evidence)
Clefting v1.53 EIF4A3 Catherine Snow Gene: eif4a3 has been classified as Green List (High Evidence).
Clefting v1.52 POLR1A Catherine Snow Phenotypes for gene: POLR1A were changed from cleft lip to cleft palte
Clefting v1.51 POLR1A Catherine Snow Classified gene: POLR1A as Amber List (moderate evidence)
Clefting v1.51 POLR1A Catherine Snow Gene: polr1a has been classified as Amber List (Moderate Evidence).
Clefting v1.50 POLR1A Catherine Snow commented on gene: POLR1A: PMID: 25913037 : Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies identified POLR1A in three unrelated individuals. One individual had a cleft palate, the other individuals had craniofacial features but not specifically a cleft palate.
POLR1A is associated with cleft palate in OMIM based on this paper and is in Gene2Phenotype as a DD Gene, associated with Disease: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE.
As insufficient number of cases, classifying as Amber.
Clefting v1.50 POLR1A Catherine Snow gene: POLR1A was added
gene: POLR1A was added to Clefting. Sources: Expert list
Mode of inheritance for gene: POLR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: POLR1A were set to 25913037
Phenotypes for gene: POLR1A were set to cleft lip
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
Early onset or syndromic epilepsy v1.256 KCNMA1 Konstantinos Varvagiannis changed review comment from: In a recent extensive review of the literature, Bailey et al. (2019 - PMID: 31427379) summarize the phenotype of KCNMA1-related channelopathy. Overall the features of 37 subjects with 16 KCNMA1 pathogenic variants are discussed in detail. [An also relevant report by Liang et al. published in 6/2019 - PMID: 31152168 - was also considered for this review].

KCNMA1 encodes the pore-forming α subunit of large-conductance voltage- and Ca(2+)-activated K+ channel (also called BK channel). BK channels have highest expression levels in brain (acting as regulators of neuronal exciatbility) and muscle.

Variants in the review are distinguished in GoF, LoF and VUS (the latter used for variants of unknown/uncharacterized effect on BK channel activity) [NM_002247.3 mentioned as RefSeq]:
- GoF variants included D434G (a variant reported in 13 individuals) and N995S (also reported as N999S or N1053S).
- LoF variants included S351Y, G356R, G375R, N449fs*, I663V, C413Y, P805L, D984N, G354S.
- Uncharacterized variants included R458Ter, Y676Lfs*7 (both presumed to result to LoF), K518N, E656A, N1195S, E884K.

The disorder exhibited in most cases aut. dominant inheritance (either as de novo occurrence of a variant or identification in successive generations), with autosomal recessive inheritance reported in one pedigree (sibs with Y676Lfs*fs) (Tabarki et al. 2016 - PMID: 27567911).

As the authors comment, the hallmark of KCNMA1-related channelopathy is neurological dysfunction incl. seizures, movement disorders, DD and ID.

Epilepsy was a feature in approx. half individuals (18/37) irrespective of mutation type (eg. 9/20 in the case of GoF, 6/13 in LoF variants). Seizure characteristics were highly variable as for the onset, type, EEG pattern, frequency/duration and response to medication. Overlapping types were noted for GoF and LoF mutations incl. myoclonic, GTCS, absence seizures with few being more frequent or specific in certain mutation types.

Individuals with the same variant may present or not certain features eg. 6/13 members of a large family with D434G or 3/7 (all unrelated) individuals with N1053S developed epilepsy.

Animal studies support a role for both LoF and GoF alterations in BK channel activity as for the seizures, with more solid evidence/correlation with GoF mutations. (Other phenotypes eg. movement disorders are also supported by animal models).

Similarly developmental delay has been reported in 21/37 individuals and intellectual disability in 12/37 (both GoF and LoF) with severe presentation in certain cases (eg. in 3 individuals with G375R) while on several occasions severity (or presence of this feature(?)) has probably not been commented on.

The KCNMA1-related disorders in OMIM are the following:
?Cerebellar atrophy, developmental delay, and seizures, 617643 (AR)
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (AD)

KCNMA1 is part of the DD panel of G2P associated with Generalized epilepsy and paroxysmal dyskinesia (monoallelic, activating mutations / disease confidence : possible).

KCNMA1 is included in several gene panels for epilepsy incl. those of Radboudumc and Victorian Clinical Genetics and several other panels summarized in the supplement of the review. The gene is included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx).

As a result upgrade to green rating can be considered for the epilepsy panel. The gene could possibly be upgraded to amber (or green) in the ID panel, too.; to: In a recent extensive review of the literature, Bailey et al. (2019 - PMID: 31427379) summarize the phenotype of KCNMA1-related channelopathy. Overall the features of 37 subjects with 16 KCNMA1 pathogenic variants are discussed in detail. [An also relevant report by Liang et al. published in 6/2019 - PMID: 31152168 - was also considered for this review].

KCNMA1 encodes the pore-forming α subunit of large-conductance voltage- and Ca(2+)-activated K+ channel (also called BK channel). BK channels have highest expression levels in brain (acting as regulators of neuronal exciatbility) and muscle.

Variants in the review are distinguished in GoF, LoF and VUS (the latter used for variants of unknown/uncharacterized effect on BK channel activity) [NM_002247.3 mentioned as RefSeq]:
- GoF variants included D434G (a variant reported in 13 individuals) and N995S (also reported as N999S or N1053S).
- LoF variants included S351Y, G356R, G375R, N449fs*, I663V, C413Y, P805L, D984N, G354S.
- Uncharacterized variants included R458Ter, Y676Lfs*7 (both presumed to result to LoF), K518N, E656A, N1195S, E884K.

The disorder exhibited in most cases aut. dominant inheritance (either as de novo occurrence of a variant or identification in successive generations), with autosomal recessive inheritance reported in one pedigree (sibs with Y676Lfs*fs) (Tabarki et al. 2016 - PMID: 27567911).

As the authors comment, the hallmark of KCNMA1-related channelopathy is neurological dysfunction incl. seizures, movement disorders, DD and ID.

Epilepsy was a feature in approx. half individuals (18/37) irrespective of mutation type (eg. 9/20 in the case of GoF, 6/13 in LoF variants). Seizure characteristics were highly variable as for the onset, type, EEG pattern, frequency/duration and response to medication. Overlapping types were noted for GoF and LoF mutations incl. myoclonic, GTCS, absence seizures with few being more frequent or specific in certain mutation types.

Individuals with the same variant may present or not certain features eg. 6/13 members of a large family with D434G or 3/7 (all unrelated) individuals with N1053S developed epilepsy.

Animal studies support a role for both LoF and GoF alterations in BK channel activity as for the seizures, with more solid evidence/correlation with GoF mutations. (Other phenotypes eg. movement disorders are also supported by animal models).

Similarly developmental delay has been reported in 21/37 individuals and intellectual disability in 12/37 (both GoF and LoF) with severe presentation in certain cases (eg. in 3 individuals with G375R) while on several occasions severity (or presence of this feature(?)) has probably not been commented on.

The KCNMA1-related disorders in OMIM are the following :
?Cerebellar atrophy, developmental delay, and seizures, 617643 (AR)
Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (AD)

KCNMA1 is part of the DD panel of G2P associated with Generalized epilepsy and paroxysmal dyskinesia (monoallelic, activating mutations / disease confidence : possible).

KCNMA1 is included in several gene panels for epilepsy incl. those of Radboudumc and Victorian Clinical Genetics and several other panels summarized in the supplement of the review. The gene is included in gene panels for ID offered by some diagnostic laboratories (eg. GeneDx).

As a result upgrade to green rating can be considered for the epilepsy panel. The gene could possibly be upgraded to amber (or green) in the ID panel, too.
Early onset or syndromic epilepsy v1.256 HNRNPR Konstantinos Varvagiannis gene: HNRNPR was added
gene: HNRNPR was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNRNPR were set to 31079900; 26795593
Phenotypes for gene: HNRNPR were set to Global developmental delay; Intellectual disability; Seizures; Postnatal microcephaly; Short digit
Penetrance for gene: HNRNPR were set to unknown
Review for gene: HNRNPR was set to AMBER
Added comment: Duijkers et al. (2019 - PMID: 31079900) report on the phenotype of 4 individuals with de novo HNRNPR variants and provide additional information on a previously published case (Helbig et al, 2016 - PMID: 26795593). All 5 were unrelated.

The phenotype consisted of DD (5/5 - moderate to severe in 4 for which this has been commented on), postnatal microcephaly, seizures (4/5), brachydactyly, with additional (cardiac, urogenital, etc) anomalies observed in few. Some partially overlapping facial features were also noted.

3 truncating variants as well as a missense one, all localizing within the last exon of the gene (NM_001102398.2 used as ref. although this exon is shared by all transcripts).

HNRNPR encodes heterogeneous nuclear ribonucleoprotein R, which is part of the spliceosome C. The latter functions in the nucleus to process and transport mRNA. Apart from splicing hnRNPs are also involved in other levels of gene regulation (PMID: 27215579). Some hnRNPs have been found in the cytoplasm in stress granules, aggregations of protein, RNAs and stalled initiation complexes that are formed as stress response upon oxidative insult and dissipate upon cessation of this insult.

Western blot in LCLs from affected individuals demonstrated the presence of the truncated protein as well as the full-length and short isoform (as expected by the variant localization).
As the C-terminal part has features of a "prion-like domain" (PrLD), critical for the formation of stress granules in the case of hnRNP-related disorders, comparison of fibroblasts from affected and healthy individuals revealed abnormal persistence of these granules in affected individuals following a recovery period, despite similar formation either at basal levels or under conditions of stress.

In line with a role of hnRNPs in splicing and gene regulation, RNA-Sequencing in fibroblasts from 2 affected individuals revealed abnormal splicing of some genes (eg. HOXA5, HOXB3, LHX9) and significant dysregulation of genes important for the development (upregulation of FOXG1, TBX1, several members of the HOX family and downregulation of LHX9, IRX3, etc) possibly contributing to the patient features.

Helbig et al. provide details on animal studies incl.expression in neural tissues (cerebrum and cerebellum), higher levels of expression early in the development (of both R1/R2 isoforms), etc (extensive discussion in the supplement with several articles cited).

HNRNPR is not associated with any phenotype in OMIM/G2P.

As a result this gene can be considered for inclusion as amber (seizures in 4/5) or green.
Sources: Literature
Intellectual disability v2.1015 HNRNPR Konstantinos Varvagiannis changed review comment from: Duijkers et al. (2019 - PMID: 31079900) report on the phenotype of 4 individuals with de novo HNRNPR variants and provide additional information on a previously published case (Helbig et al, 2016 - PMID: 26795593). All 5 were unrelated.

The phenotype consisted of DD (5/5 - moderate to severe in 4 for which this has been commented on), postnatal microcephaly, seizures, brachydactyly, with additional (cardiac, urogenital, etc) anomalies observed in few. Some partially overlapping facial features were also noted.

3 truncating variants as well as a missense one, all localizing within the last exon of the gene (NM_001102398.2 used as ref. although this exon is shared by all transcripts).

HNRNPR encodes heterogeneous nuclear ribonucleoprotein R, which is part of the spliceosome C. The latter functions in the nucleus to process and transport mRNA. Apart from splicing hnRNPs are also involved in other levels of gene regulation (PMID: 27215579). Some hnRNPs have been found in the cytoplasm in stress granules, aggregations of protein, RNAs and stalled initiation complexes that are formed as stress response upon oxidative insult and dissipate upon cessation of this insult.

Western blot in LCLs from affected individuals demonstrated the presence of the truncated protein as well as the full-length and short isoform (as expected by the variant localization).
As the C-terminal part has features of a "prion-like domain" (PrLD), critical for the formation of stress granules in the case of hnRNP-related disorders, comparison of fibroblasts from affected and healthy individuals revealed abnormal persistence of these granules in affected individuals following a recovery period, despite similar formation either at basal levels or under conditions of stress.

In line with a role of hnRNPs in splicing and gene regulation, RNA-Sequencing in fibroblasts from 2 affected individuals revealed abnormal splicing of some genes (eg. HOXA5, HOXB3, LHX9) and significant dysregulation of genes important for the development (upregulation of FOXG1, TBX1, several members of the HOX family and downregulation of LHX9, IRX3, etc) possibly contributing to the patient features.

Helbig et al. provide details on animal studies incl.expression in neural tissues (cerebrum and cerebellum), higher levels of expression early in the development (of both R1/R2 isoforms), etc (extensive discussion in the supplement with several articles cited).

HNRNPR is not associated with any phenotype in OMIM/G2P.

As a result this gene can be considered for inclusion as amber (developmental outcome not commented on sufficiently despite moderate/severe DD in most).
Sources: Literature; to: Duijkers et al. (2019 - PMID: 31079900) report on the phenotype of 4 individuals with de novo HNRNPR variants and provide additional information on a previously published case (Helbig et al, 2016 - PMID: 26795593). All 5 were unrelated.

The phenotype consisted of DD (5/5 - moderate to severe in 4 for which this has been commented on), postnatal microcephaly, seizures, brachydactyly, with additional (cardiac, urogenital, etc) anomalies observed in few. Some partially overlapping facial features were also noted.

3 truncating variants as well as a missense one, all localizing within the last exon of the gene (NM_001102398.2 used as ref. although this exon is shared by all transcripts).

HNRNPR encodes heterogeneous nuclear ribonucleoprotein R, which is part of the spliceosome C. The latter functions in the nucleus to process and transport mRNA. Apart from splicing hnRNPs are also involved in other levels of gene regulation (PMID: 27215579). Some hnRNPs have been found in the cytoplasm in stress granules, aggregations of protein, RNAs and stalled initiation complexes that are formed as stress response upon oxidative insult and dissipate upon cessation of this insult.

Western blot in LCLs from affected individuals demonstrated the presence of the truncated protein as well as the full-length and short isoform (as expected by the variant localization).
As the C-terminal part has features of a "prion-like domain" (PrLD), critical for the formation of stress granules in the case of hnRNP-related disorders, comparison of fibroblasts from affected and healthy individuals revealed abnormal persistence of these granules in affected individuals following a recovery period, despite similar formation either at basal levels or under conditions of stress.

In line with a role of hnRNPs in splicing and gene regulation, RNA-Sequencing in fibroblasts from 2 affected individuals revealed abnormal splicing of some genes (eg. HOXA5, HOXB3, LHX9) and significant dysregulation of genes important for the development (upregulation of FOXG1, TBX1, several members of the HOX family and downregulation of LHX9, IRX3, etc) possibly contributing to the patient features.

Helbig et al. provide details on animal studies incl.expression in neural tissues (cerebrum and cerebellum), higher levels of expression early in the development (of both R1/R2 isoforms), etc (extensive discussion in the supplement with several articles cited).

HNRNPR is not associated with any phenotype in OMIM/G2P.

As a result this gene can be considered for inclusion as amber (developmental outcome not commented on sufficiently despite moderate/severe DD in most) or green.
Sources: Literature
Intellectual disability v2.1015 HNRNPR Konstantinos Varvagiannis gene: HNRNPR was added
gene: HNRNPR was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: HNRNPR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HNRNPR were set to 31079900; 26795593
Phenotypes for gene: HNRNPR were set to Global developmental delay; Intellectual disability; Seizures; Postnatal microcephaly; Short digit
Penetrance for gene: HNRNPR were set to unknown
Review for gene: HNRNPR was set to GREEN
Added comment: Duijkers et al. (2019 - PMID: 31079900) report on the phenotype of 4 individuals with de novo HNRNPR variants and provide additional information on a previously published case (Helbig et al, 2016 - PMID: 26795593). All 5 were unrelated.

The phenotype consisted of DD (5/5 - moderate to severe in 4 for which this has been commented on), postnatal microcephaly, seizures, brachydactyly, with additional (cardiac, urogenital, etc) anomalies observed in few. Some partially overlapping facial features were also noted.

3 truncating variants as well as a missense one, all localizing within the last exon of the gene (NM_001102398.2 used as ref. although this exon is shared by all transcripts).

HNRNPR encodes heterogeneous nuclear ribonucleoprotein R, which is part of the spliceosome C. The latter functions in the nucleus to process and transport mRNA. Apart from splicing hnRNPs are also involved in other levels of gene regulation (PMID: 27215579). Some hnRNPs have been found in the cytoplasm in stress granules, aggregations of protein, RNAs and stalled initiation complexes that are formed as stress response upon oxidative insult and dissipate upon cessation of this insult.

Western blot in LCLs from affected individuals demonstrated the presence of the truncated protein as well as the full-length and short isoform (as expected by the variant localization).
As the C-terminal part has features of a "prion-like domain" (PrLD), critical for the formation of stress granules in the case of hnRNP-related disorders, comparison of fibroblasts from affected and healthy individuals revealed abnormal persistence of these granules in affected individuals following a recovery period, despite similar formation either at basal levels or under conditions of stress.

In line with a role of hnRNPs in splicing and gene regulation, RNA-Sequencing in fibroblasts from 2 affected individuals revealed abnormal splicing of some genes (eg. HOXA5, HOXB3, LHX9) and significant dysregulation of genes important for the development (upregulation of FOXG1, TBX1, several members of the HOX family and downregulation of LHX9, IRX3, etc) possibly contributing to the patient features.

Helbig et al. provide details on animal studies incl.expression in neural tissues (cerebrum and cerebellum), higher levels of expression early in the development (of both R1/R2 isoforms), etc (extensive discussion in the supplement with several articles cited).

HNRNPR is not associated with any phenotype in OMIM/G2P.

As a result this gene can be considered for inclusion as amber (developmental outcome not commented on sufficiently despite moderate/severe DD in most).
Sources: Literature
Intellectual disability v2.1015 FBXW11 Konstantinos Varvagiannis gene: FBXW11 was added
gene: FBXW11 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FBXW11 were set to 31402090
Phenotypes for gene: FBXW11 were set to Global developmental delay; Intellectual disability; Abnormality of the eye; Abnormality of the head; Abnormality of digit
Penetrance for gene: FBXW11 were set to unknown
Review for gene: FBXW11 was set to GREEN
Added comment: Holt et al. (2019 - PMID: 31402090) report on 7 unrelated individuals with de novo FBXW11 variants.

Features included DD (6/7), ID (6/7 - severity relevant to the current panel in most cases), eye, digital, jaw anomalies, etc. There was some overlap with the phenotype of a 1.24-Mb 5q35.1 microduplication spanning FBXW11 and 6 additional genes (Koolen et al, 2006 - PMID: 16865294).

FBXW11 encodes an F-box protein part of the Skp1-cullin-F-box (SCF) ubiquitin ligase complex, involved in ubiquitination and proteasomal degratation. The SCF complex functions as a regulator of Wnt/β-catenin, Hh (and possibly RAS) signalling pathways.

Each individual harbored a private missense variant as a de novo event. Alternative diagnoses (eg. Noonan syndrome in the case of a suggestive phenotype) were ruled out to the extent possible.

All 7 variants localized in regions depleted for nonsynonymous variation (constrained coding regions) at the tips of loops of the WD repeat domains and were presumed to lead to destabilization of the protein and/or its interactions. Given the clustering a gain-of-function or dominant-negative effect of these variants might be suggested. [In gnomAD FBXW11 has a Z score = 3.96 for missense variants / pLI = 0.98].

In situ hybridization on human embryo sections demonstrated expression in the developping eye, hand, brain and mandibular process.

Relevant expression patterns were also observed for the 2 zebrafish orthologs of FBXW11, fbxw11a/b. Generated zebrafish homozygous for a frameshift fbxw11b frameshift variant demonstrated relevant phenotypes upon additional injection of a fbxw11a morpholino (abnormal pectoral fins, heart edema, smaller eyes, abnormal jaw development).

FBXW11 is not associated with any phenotype in OMIM/G2P.

As a result, this gene can be considered for inclusion in the ID panel as green (sufficient cases, expression, phenotype in zebrafish model, etc.) or amber.
Sources: Literature
Early onset or syndromic epilepsy v1.256 GOT2 Konstantinos Varvagiannis gene: GOT2 was added
gene: GOT2 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Global developmental delay; Intellectual disability; Seizures; Increased serum lactate; Hyperammonemia; Microcephaly; Failure to thrive; Feeding difficulties; Abnormality of nervous system morphology
Penetrance for gene: GOT2 were set to Complete
Review for gene: GOT2 was set to GREEN
Added comment: van Karnebeek et al. (2019 - PMID: 31422819) report on 4 individuals from 3 families, with biallelic GOT2 pathogenic variants (3 missense SNVs and 1 in-frame deletion).

The phenotype corresponded to a metabolic encephalopathy with onset of epilepsy in the first year of life (4/4) with DD and ID (4/4). Additional features included postnatal microcephaly, failure to thrive/feeding difficulties and cerebral anomalies (atrophy and white matter). All subjects had high blood lactate and hyperammonemia. Plasma serine was low in one case (alternative causes were ruled out).

Administration of serine and pyridoxine led to clinical improvement (cessation / better control of seizures) in 2 subjects suggesting that GOT2 deficiency may be amenable to therapeutic intervention. [Treatment could not be started in the 2 further affected individuals].

GOT2 encodes the mitochondrial glutamate oxaloacetate transaminase, a component of the malate-aspartate shuttle (MAS). The latter is important for intracellular NAD(H) redox homeostasis.

The authors provide several lines of evidence that GOT2 deficiency explains the patients' phenotype and metabolic defects incl. :
- Reduced GOT2 protein levels (due to lower expression/impaired stability) and diminished activity in patient fibroblasts (lower activity was also shown for carriers). Rescue of the GOT enzymatic activity was observed upon transduction of patient fibroblasts using lentiviral particles with wt GOT2.
- Impairment of de novo serine biosynthesis in patient (and to a lesser extent in carrier) fibroblasts compared to controls. This was similar in GOT2-knockout HEK293 cells. Serine biosynthesis in these cells was restored by pyruvate supplementation.
- CRISPR/Cas9 Got2-knockout mice resulted in early lethality (during pregnancy). Heterozygous mice were viable and healthy.
- Morpholino knockdown of got2a in zebrafish was shown to perturb embryonic development (smaller head, slow circulation, bend body, brain developmental defects, etc). Pyridoxine and serine in embryo water resulted in milder phenotypes/improved morphant survival. Zebrafish got2a morphants had seizure-like spikes upon EEG that were rescued by treatment with pyridoxine.

GOT2 is not associated with any phenotype in OMIM/G2P.

As a result, this gene can be considered for inclusion in both epilepsy and ID gene panels probably as green (3 families, relevant phenotypes and severity, evidence from cell and animal studies) or amber.

[Please consider inclusion in other relevant panels eg. mitochondrial disorders, metabolic disorders and/or addition of the 'treatable' tag].
Sources: Literature
Intellectual disability v2.1015 GOT2 Konstantinos Varvagiannis gene: GOT2 was added
gene: GOT2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: GOT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOT2 were set to 31422819
Phenotypes for gene: GOT2 were set to Global developmental delay; Intellectual disability; Seizures; Increased serum lactate; Hyperammonemia; Microcephaly; Failure to thrive; Feeding difficulties; Abnormality of nervous system morphology
Penetrance for gene: GOT2 were set to Complete
Review for gene: GOT2 was set to GREEN
Added comment: van Karnebeek et al. (2019 - PMID: 31422819) report on 4 individuals from 3 families, with biallelic GOT2 pathogenic variants (3 missense SNVs and 1 in-frame deletion).

The phenotype corresponded to a metabolic encephalopathy with onset of epilepsy in the first year of life (4/4) with DD and ID (4/4). Additional features included postnatal microcephaly, failure to thrive/feeding difficulties and cerebral anomalies (atrophy and white matter). All subjects had high blood lactate and hyperammonemia. Plasma serine was low in one case (alternative causes were ruled out).

Administration of serine and pyridoxine led to clinical improvement (cessation / better control of seizures) in 2 subjects suggesting that GOT2 deficiency may be amenable to therapeutic intervention. [Treatment could not be started in the 2 further affected individuals].

GOT2 encodes the mitochondrial glutamate oxaloacetate transaminase, a component of the malate-aspartate shuttle (MAS). The latter is important for intracellular NAD(H) redox homeostasis.

The authors provide several lines of evidence that GOT2 deficiency explains the patients' phenotype and metabolic defects incl. :
- Reduced GOT2 protein levels (due to lower expression/impaired stability) and diminished activity in patient fibroblasts (lower activity was also shown for carriers). Rescue of the GOT enzymatic activity was observed upon transduction of patient fibroblasts using lentiviral particles with wt GOT2.
- Impairment of de novo serine biosynthesis in patient (and to a lesser extent in carrier) fibroblasts compared to controls. This was similar in GOT2-knockout HEK293 cells. Serine biosynthesis in these cells was restored by pyruvate supplementation.
- CRISPR/Cas9 Got2-knockout mice resulted in early lethality (during pregnancy). Heterozygous mice were viable and healthy.
- Morpholino knockdown of got2a in zebrafish was shown to perturb embryonic development (smaller head, slow circulation, bend body, brain developmental defects, etc). Pyridoxine and serine in embryo water resulted in milder phenotypes/improved morphant survival. Zebrafish got2a morphants had seizure-like spikes upon EEG that were rescued by treatment with pyridoxine.

GOT2 is not associated with any phenotype in OMIM/G2P.

As a result, this gene can be considered for inclusion in both epilepsy and ID gene panels probably as green (3 families, relevant phenotypes and severity, evidence from cell and animal studies) or amber.

[Please consider inclusion in other relevant panels eg. mitochondrial disorders, metabolic disorders and/or addition of the 'treatable' tag].
Sources: Literature
Intellectual disability v2.1015 DDX6 Konstantinos Varvagiannis gene: DDX6 was added
gene: DDX6 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: DDX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DDX6 were set to 31422817
Phenotypes for gene: DDX6 were set to Generalized hypotonia; Global developmental delay; Intellectual disability; Unsteady gait; Abnormality of the cardiovascular system; Abnormality of the genitourinary system; Abnormality of limbs
Penetrance for gene: DDX6 were set to unknown
Review for gene: DDX6 was set to GREEN
Added comment: Balak et al. (2019 - PMID: 31422817) report on 5 individuals with de novo likely pathogenic DDX6 variants.

Clinical details are provided for 4. Frequent features included hypotonia, DD, ID (4/4), gait instability, cardiac, genitourinary as well anomalies of the extremities.

DDX6 belongs to the DEAD box family of RNA helicases. This helicase is an essential component of processing bodies (P-bodies / PBs), which are mebrane-less organelles involved in storage of mRNAs and proteins related to mRNA decay thus playing an important role in translational repression/post-transcriptional regulation (PMID: 29381060).

All 5 variants had occurred as de novo events, clustered in exon 11 (NM_004397.5) and affected residues 372-373 of the QxxR motif (c.1115A>G or p.His372Arg / c.1118G>A or p.Arg373Gln) or 390-391 of the V motif (c.1168T>C or p.Cys390Arg / c.1171A>C or p.Thr391Pro / c.1172C>T or p.Thr391Ile). The specific motifs (and RecA-2 domain) are involved in RNA binding, helicase activity and protein-partner binding.

Fibroblasts from 2 individuals were studied. Patient cells contained fewer PBs compared to cells from relatives/control-subjects, despite similar amounts of DDX6 protein upon immunobloting. Additional studies suggested that DDX6 variants caused impaired binding of other DDX6 protein partners involved in PB formation / translation repression (eg. LSM14A, 4E-T, etc) thus resulting in defective PB assembly.

Transcriptome analysis in fibroblasts from one affected individual revealed (significant) differential expression of >1000 genes, enriched for genes related to protein translation, ribosome and RNA processing.

As the authors discuss, given the residual PB assembly, haploinsufficiency is favored over a dominant-negative effect which would result in complete suppression of PBs (as sugested by a previous study of a dominant-negative DDX6 variant - PMID cited: 19297524). [In gnomAD, DDX6 has a Z-score for missense variants of 3.78 and a pLI of 1].

DDX6 is not associated with any phenotype in OMIM.
In G2P it is associated with ID (disease confidence : probable / mutations : all missense/in frame).

As a result, this gene can be considered for inclusion in the ID panel as green (sufficient cases, relevant phenotype, functional studies) or amber.
Sources: Literature
Early onset or syndromic epilepsy v1.256 TRAPPC6B Konstantinos Varvagiannis reviewed gene: TRAPPC6B: Rating: AMBER; Mode of pathogenicity: None; Publications: 28626029, 28397838, DOI 10.1055/s-0039-1693664; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1015 TRAPPC6B Konstantinos Varvagiannis reviewed gene: TRAPPC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 28626029, 28397838, DOI 10.1055/s-0039-1693664; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Intellectual disability v2.1015 KCNMA1 Konstantinos Varvagiannis reviewed gene: KCNMA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 31427379, 31152168, 27567911; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Early onset or syndromic epilepsy v1.256 KCNMA1 Konstantinos Varvagiannis reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31427379, 31152168, 27567911; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Primary lymphoedema v1.113 TSC2 Sarah Leigh Classified gene: TSC2 as Amber List (moderate evidence)
Primary lymphoedema v1.113 TSC2 Sarah Leigh Added comment: Comment on list classification: Based on recommendation from Prof Sahar Mansour (St George's Hospital, London) lymphoedema has been reported with tuberous sclerosis once or twice in the literature and we have a couple of patients but it is rare and there are usually other clues to the diagnosis.
Primary lymphoedema v1.113 TSC2 Sarah Leigh Gene: tsc2 has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v1.112 TSC1 Sarah Leigh Classified gene: TSC1 as Amber List (moderate evidence)
Primary lymphoedema v1.112 TSC1 Sarah Leigh Added comment: Comment on list classification: Based on recommendation from Prof Sahar Mansour (St George's Hospital, London) lymphoedema has been reported with tuberous sclerosis once or twice in the literature and we have a couple of patients but it is rare and there are usually other clues to the diagnosis.
Primary lymphoedema v1.112 TSC1 Sarah Leigh Gene: tsc1 has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v1.111 NSD1 Sarah Leigh Classified gene: NSD1 as Amber List (moderate evidence)
Primary lymphoedema v1.111 NSD1 Sarah Leigh Added comment: Comment on list classification: According to Prof Sahar Mansour (St Georges Hospital, London), lymphoedema has been reported in some cases of Sotos syndrome 1 117550.
Primary lymphoedema v1.111 NSD1 Sarah Leigh Gene: nsd1 has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v1.110 NSD1 Sarah Leigh Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1 117550
Primary lymphoedema v1.109 NSD1 Sarah Leigh Publications for gene: NSD1 were set to 9781911
Primary lymphoedema v1.108 RASA1 Sarah Leigh changed review comment from: Comment on list classification: From Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK52764/) "Lymphatic malformations have been reported in several individuals [de Wijn et al 2012, Burrows et al 2013, Macmurdo et al 2016], including one individual with RASA1-related Parkes Weber syndrome. Lymphangiography and near-infrared fluorescence lymphatic imaging showed abnormally dilated collecting lymphatics with sluggish flow in the unaffected limb, and tortuous lymphatics of the affected limb with lymphocele-like vesicles on the groin [Burrows et al 2013]. Whether these lymphatic abnormalities are progressive is not yet known."; to: Comment on list classification: From Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK52764/) "Lymphatic malformations have been reported in several individuals [PMIDs 26969842, 23650393, 22342634], including one individual with RASA1-related Parkes Weber syndrome. Lymphangiography and near-infrared fluorescence lymphatic imaging showed abnormally dilated collecting lymphatics with sluggish flow in the unaffected limb, and tortuous lymphatics of the affected limb with lymphocele-like vesicles on the groin [PMID 23650393]. Whether these lymphatic abnormalities are progressive is not yet known."
Primary lymphoedema v1.108 RASA1 Sarah Leigh Classified gene: RASA1 as Amber List (moderate evidence)
Primary lymphoedema v1.108 RASA1 Sarah Leigh Added comment: Comment on list classification: From Gene Reviews (https://www.ncbi.nlm.nih.gov/books/NBK52764/) "Lymphatic malformations have been reported in several individuals [de Wijn et al 2012, Burrows et al 2013, Macmurdo et al 2016], including one individual with RASA1-related Parkes Weber syndrome. Lymphangiography and near-infrared fluorescence lymphatic imaging showed abnormally dilated collecting lymphatics with sluggish flow in the unaffected limb, and tortuous lymphatics of the affected limb with lymphocele-like vesicles on the groin [Burrows et al 2013]. Whether these lymphatic abnormalities are progressive is not yet known."
Primary lymphoedema v1.108 RASA1 Sarah Leigh Gene: rasa1 has been classified as Amber List (Moderate Evidence).
Primary lymphoedema v1.107 RASA1 Sarah Leigh Publications for gene: RASA1 were set to
Primary lymphoedema v1.106 RASA1 Sarah Leigh Phenotypes for gene: RASA1 were changed from to Capillary malformation-arteriovenous malformation 1 608354
Early onset or syndromic epilepsy v1.256 KCND2 Alison Callaway reviewed gene: KCND2: Rating: RED; Mode of pathogenicity: None; Publications: 16934482; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.256 CSNK2A1 Alison Callaway reviewed gene: CSNK2A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27048600; Phenotypes: Neurodevelopmental abnormalities and dysmorphic features; Mode of inheritance: None
Early onset or syndromic epilepsy v1.256 ZNF142 Alison Callaway reviewed gene: ZNF142: Rating: AMBER; Mode of pathogenicity: None; Publications: 31036918; Phenotypes: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS; Mode of inheritance: None
Early onset or syndromic epilepsy v1.256 USP7 Alison Callaway reviewed gene: USP7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.256 TRRAP Alison Callaway reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28628100, 30827496; Phenotypes: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.256 TRPM3 Alison Callaway reviewed gene: TRPM3: Rating: AMBER; Mode of pathogenicity: None; Publications: 29156220; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.256 CLCN6 Alison Callaway reviewed gene: CLCN6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.256 AIMP2 Alison Callaway reviewed gene: AIMP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26795593; Phenotypes: Epileptic Encephalopathy, Infantile Spasms; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.256 AFF3 Alison Callaway reviewed gene: AFF3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.256 ALPL Alison Callaway changed review comment from: Epilepsy can be associated with hypophosphasia; no further literature identified. From reviews below, appears to have sufficient evidence for a green gene.; to: Epilepsy can be associated with hypophosphatasia; no further literature identified. From reviews below, appears to have sufficient evidence for a green gene.
Early onset or syndromic epilepsy v1.256 ALPL Alison Callaway reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.256 EMX2 Alison Callaway reviewed gene: EMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.256 NPRL2 Alison Callaway reviewed gene: NPRL2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.256 KCNMA1 Alison Callaway reviewed gene: KCNMA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29933521; Phenotypes: Generalised epilepsy and paroxysmal dyskinesia; Mode of inheritance: None
Arrhythmogenic right ventricular cardiomyopathy v1.25 FLNC Matthew Edwards reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 26666891; Phenotypes: Arrhythmogenic cardiomyopathy, Cardiomyopathy, familial restrictive 5 (OMIM:617047), Myopathy, distal, 4 (OMIM: 614065), Myopathy, myofibrillar, 5 (OMIM:609524; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Early onset or syndromic epilepsy v1.256 TUBB2A Alison Callaway reviewed gene: TUBB2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 24702957; Phenotypes: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Early onset or syndromic epilepsy v1.256 SLC25A12 Alison Callaway reviewed gene: SLC25A12: Rating: GREEN; Mode of pathogenicity: None; Publications: 19641205, 24515575, 27290639, 26633542; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.256 HCN2 Alison Callaway reviewed gene: HCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29064616, 22131395; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.256 HCN2 Alison Callaway Deleted their review
Early onset or syndromic epilepsy v1.256 HCN2 Alison Callaway reviewed gene: HCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29064616, 22131395; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Clefting v1.49 PLEKHA7 Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr11:g.16838582C>T;p.Gly544Asp) was identified in one family. Further analysis of 497 individuals identified a further likely pathogenic variant and another variant of unknown significance both variants were found in the same family (chr11:g.16838676G>A;p.Arg513Trp and chr11:g.16834682T>C;p.Asp662Gly), a further variant of unknown significance was identified in another family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr11:g.16838582C>T;p.Gly544Asp) was identified in one family. Further analysis of 497 individuals identified a likely pathogenic variant and another variant of unknown significance both variants were found in the same family (chr11:g.16838676G>A;p.Arg513Trp and chr11:g.16834682T>C;p.Asp662Gly), a further variant of unknown significance was identified in another family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.
Clefting v1.49 PLEKHA7 Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant (chr11:g.16838582C>T;p.Gly544Asp) was identified in one family. Further analysis of 497 individuals identified a further pathogenic variant and another variant of unknown significance both variants were found in the same family (chr11:g.16838676G>A;p.Arg513Trp and chr11:g.16834682T>C;p.Asp662Gly), a further variant of unknown significance was identified in another family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr11:g.16838582C>T;p.Gly544Asp) was identified in one family. Further analysis of 497 individuals identified a further likely pathogenic variant and another variant of unknown significance both variants were found in the same family (chr11:g.16838676G>A;p.Arg513Trp and chr11:g.16834682T>C;p.Asp662Gly), a further variant of unknown significance was identified in another family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.
Clefting v1.49 PLEKHA5 Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic de novo variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic de novo variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.
Clefting v1.49 PLEKHA5 Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic de novo variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.
Undiagnosed metabolic disorders v1.264 ALDH3A2 Sarah Leigh Classified gene: ALDH3A2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.264 ALDH3A2 Sarah Leigh Gene: aldh3a2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.263 ALDH3A2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.263 ALDH3A2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.263 ALDH3A2 Sarah Leigh Deleted their comment
Clefting v1.49 ESRP2 Catherine Snow Classified gene: ESRP2 as Amber List (moderate evidence)
Clefting v1.49 ESRP2 Catherine Snow Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.263 ALAS2 Sarah Leigh Classified gene: ALAS2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.263 ALAS2 Sarah Leigh Gene: alas2 has been classified as Green List (High Evidence).
Clefting v1.49 ESRP2 Catherine Snow Classified gene: ESRP2 as Amber List (moderate evidence)
Clefting v1.49 ESRP2 Catherine Snow Gene: esrp2 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.262 ALAS2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.262 ADSL Sarah Leigh Classified gene: ADSL as Green List (high evidence)
Undiagnosed metabolic disorders v1.262 ADSL Sarah Leigh Gene: adsl has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.261 ADSL Sarah Leigh Deleted their comment
Clefting v1.48 ESRP2 Catherine Snow edited their review of gene: ESRP2: Changed rating: AMBER
Undiagnosed metabolic disorders v1.261 ADSL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.261 ADSL Sarah Leigh Deleted their comment
Clefting v1.48 ESRP2 Catherine Snow edited their review of gene: ESRP2: Added comment: PMID: 29805042 Cox et al. Identified ESRP2 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 likely pathogenic variant (chr16:g.68266284C>T;p.Arg315) was identified in one family. Further analysis of 497 individuals identified a further likely pathogenic variant (chr16:g.68265234G>A;p.Arg520*) in another family. ESRP2 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; Changed rating: RED
Undiagnosed metabolic disorders v1.261 ADA Sarah Leigh Classified gene: ADA as Green List (high evidence)
Undiagnosed metabolic disorders v1.261 ADA Sarah Leigh Gene: ada has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ADA Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.260 ACY1 Sarah Leigh Classified gene: ACY1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.260 ACY1 Sarah Leigh Gene: acy1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.259 ACY1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.259 ACY1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.259 ABHD12 Sarah Leigh Classified gene: ABHD12 as Green List (high evidence)
Undiagnosed metabolic disorders v1.259 ABHD12 Sarah Leigh Gene: abhd12 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.258 ABHD12 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.258 ABHD12 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.258 ABHD12 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.258 ABHD12 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.258 ABHD12 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.258 ABHD12 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.258 ABCG8 Sarah Leigh Classified gene: ABCG8 as Green List (high evidence)
Undiagnosed metabolic disorders v1.258 ABCG8 Sarah Leigh Gene: abcg8 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.257 ABCG8 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.257 ABCG8 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.257 ABCG5 Sarah Leigh Classified gene: ABCG5 as Green List (high evidence)
Undiagnosed metabolic disorders v1.257 ABCG5 Sarah Leigh Gene: abcg5 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.256 ABCG5 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.256 ALDH3A2 Sarah Leigh edited their review of gene: ALDH3A2: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported.; Changed rating: GREEN; Changed publications: 27604308, 10792573, 10577908; Changed phenotypes: Sjogren-Larsson syndrome 270200
Undiagnosed metabolic disorders v1.256 ALAS2 Sarah Leigh edited their review of gene: ALAS2: Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 18 variants identified in Anemia, sideroblastic, 1 300751 and two variants in Protoporphyria, erythropoietic, X-linked 300752 in six unrelated families, together with functional studies.; Changed rating: GREEN; Changed publications: 27604308, 1570328, 7560104, 12663458, 18760763; Changed phenotypes: Anemia, sideroblastic, 1 300751, Protoporphyria, erythropoietic, X-linked 300752
Undiagnosed metabolic disorders v1.256 ADSL Sarah Leigh edited their review of gene: ADSL: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported associated with adenylosuccinase deficiency in at least 10 unrelated cases.; Changed rating: GREEN; Changed publications: 27604308, 18830228, 12016589, 10090474; Changed phenotypes: Adenylosuccinase deficiency 103050, Intellectual disability, Epileptic encephalopathy
Undiagnosed metabolic disorders v1.256 ADA Sarah Leigh edited their review of gene: ADA: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 30 variants reported associated with Adenosine deaminase deficiency.; Changed rating: GREEN; Changed publications: 27604308, 3684597, 2783588, 1680289; Changed phenotypes: Adenosine deaminase deficiency, partial 102700, Severe combined immunodeficiency due to ADA deficiency 102700, Combined B and T cell defect, SCID, Infantile enterocolitis & monogenic inflammatory bowel disease
Undiagnosed metabolic disorders v1.256 ACY1 Sarah Leigh edited their review of gene: ACY1: Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 9 unrelated cases.; Changed rating: GREEN; Changed publications: 27604308, 24117009, 17562838, 16465618; Changed phenotypes: Aminoacylase 1 deficiency 609924, Intellectual disability
Undiagnosed metabolic disorders v1.256 ABHD12 Sarah Leigh edited their review of gene: ABHD12: Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in at least 6 unrelated cases; Changed rating: GREEN; Changed publications: 27604308, 20797687, 24697911 ; Changed phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674, Hereditary ataxia, Posterior segment abnormalities, Congenital hearing impairment (profound/severe), PHARC syndrome (Disorders of complex lipid synthesis)
Undiagnosed metabolic disorders v1.256 ABCG8 Sarah Leigh edited their review of gene: ABCG8: Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in numberous unrelated cases; Changed rating: GREEN; Changed publications: 27604308, 11452359, 15996216, 11099417, 22981120; Changed phenotypes: Sitosterolemia 210250, Familial hypercholesterolaemia
Undiagnosed metabolic disorders v1.256 ABCG5 Sarah Leigh edited their review of gene: ABCG5: Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in unrelated cases; Changed rating: GREEN; Changed publications: 27604308, 11099417, 11138003, 20719861, 17976197; Changed phenotypes: Sitosterolemia 210250, Familial hypercholesterolaemia
Clefting v1.48 ESRP2 Catherine Snow gene: ESRP2 was added
gene: ESRP2 was added to Clefting. Sources: Expert list
Mode of inheritance for gene: ESRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ESRP2 were set to 29805042
Phenotypes for gene: ESRP2 were set to cleft lip
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Clefting v1.47 PLEKHA7 Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family. Further analysis of 497 individuals identified a further pathogenic variant and another variant of unknown significance both variants were found in the same family, a further variant of unknown significance was identified in a family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant (chr11:g.16838582C>T;p.Gly544Asp) was identified in one family. Further analysis of 497 individuals identified a further pathogenic variant and another variant of unknown significance both variants were found in the same family (chr11:g.16838676G>A;p.Arg513Trp and chr11:g.16834682T>C;p.Asp662Gly), a further variant of unknown significance was identified in another family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.
Likely inborn error of metabolism v1.262 ALAS2 Sarah Leigh Classified gene: ALAS2 as Green List (high evidence)
Likely inborn error of metabolism v1.262 ALAS2 Sarah Leigh Gene: alas2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.261 ADSL Sarah Leigh Classified gene: ADSL as Green List (high evidence)
Likely inborn error of metabolism v1.261 ADSL Sarah Leigh Gene: adsl has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.260 ALAS2 Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.260 ADSL Sarah Leigh Deleted their comment
Clefting v1.47 PLEKHA5 Catherine Snow edited their review of gene: PLEKHA5: Added comment: PMID: 29805042 Cox et al. Identified PLEKHA5 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family (chr12:g.19440414A>G;p.Tyr590Cys). Further analysis of 497 individuals identified 5 variants of unknown significance. PLEKHA5 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; Changed rating: RED
Likely inborn error of metabolism v1.260 ABHD12 Sarah Leigh Classified gene: ABHD12 as Green List (high evidence)
Likely inborn error of metabolism v1.260 ABHD12 Sarah Leigh Gene: abhd12 has been classified as Green List (High Evidence).
Clefting v1.47 PLEKHA7 Catherine Snow changed review comment from: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family. Further analysis of 497 individuals identified a further pathogenic variant and another variant of unknown significance both variants were found in the same family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.; to: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family. Further analysis of 497 individuals identified a further pathogenic variant and another variant of unknown significance both variants were found in the same family, a further variant of unknown significance was identified in a family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.
Likely inborn error of metabolism v1.259 ADA Sarah Leigh Classified gene: ADA as Green List (high evidence)
Likely inborn error of metabolism v1.259 ADA Sarah Leigh Gene: ada has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.259 ACY1 Sarah Leigh Classified gene: ACY1 as Green List (high evidence)
Likely inborn error of metabolism v1.259 ACY1 Sarah Leigh Gene: acy1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.258 ADA Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.258 ABHD12 Sarah Leigh Classified gene: ABHD12 as Green List (high evidence)
Likely inborn error of metabolism v1.258 ABHD12 Sarah Leigh Gene: abhd12 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.258 ACY1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.258 ABCG8 Sarah Leigh Classified gene: ABCG8 as Green List (high evidence)
Likely inborn error of metabolism v1.258 ABCG8 Sarah Leigh Gene: abcg8 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.257 ABHD12 Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.257 ABCG8 Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.257 ABCG5 Sarah Leigh Classified gene: ABCG5 as Green List (high evidence)
Likely inborn error of metabolism v1.257 ABCG5 Sarah Leigh Gene: abcg5 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.256 ABCG5 Sarah Leigh Deleted their comment
Clefting v1.47 PLEKHA5 Catherine Snow gene: PLEKHA5 was added
gene: PLEKHA5 was added to Clefting. Sources: Expert list
Mode of inheritance for gene: PLEKHA5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLEKHA5 were set to 29805042
Phenotypes for gene: PLEKHA5 were set to cleft lip
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Likely inborn error of metabolism v1.256 ABCG5 Sarah Leigh changed review comment from: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in unrelated cases; to: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in unrelated cases
Likely inborn error of metabolism v1.256 ALDH3A2 Sarah Leigh Classified gene: ALDH3A2 as Green List (high evidence)
Likely inborn error of metabolism v1.256 ALDH3A2 Sarah Leigh Gene: aldh3a2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.255 ALDH3A2 Sarah Leigh Deleted their comment
Clefting v1.46 PLEKHA7 Catherine Snow Classified gene: PLEKHA7 as Amber List (moderate evidence)
Clefting v1.46 PLEKHA7 Catherine Snow Gene: plekha7 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.255 ALDH3A2 Sarah Leigh commented on gene: ALDH3A2: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported.
Likely inborn error of metabolism v1.255 ALAS2 Sarah Leigh commented on gene: ALAS2: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 18 variants identified in Anemia, sideroblastic, 1 300751 and two variants in Protoporphyria, erythropoietic, X-linked 300752 in six unrelated families, together with functional studies.
Likely inborn error of metabolism v1.255 ADSL Sarah Leigh commented on gene: ADSL: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported associated with adenylosuccinase deficiency in at least 10 unrelated cases.
Likely inborn error of metabolism v1.255 ADA Sarah Leigh commented on gene: ADA: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 30 variants reported associated with Adenosine deaminase deficiency.
Likely inborn error of metabolism v1.255 ACY1 Sarah Leigh commented on gene: ACY1: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 9 unrelated cases.
Likely inborn error of metabolism v1.255 ABHD12 Sarah Leigh commented on gene: ABHD12: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in at least 6 unrelated cases
Likely inborn error of metabolism v1.255 ABCG8 Sarah Leigh commented on gene: ABCG8: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified in numberous unrelated cases
Likely inborn error of metabolism v1.255 ABCG5 Sarah Leigh commented on gene: ABCG5: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Associated with phenotype in OMIM and not in Gen2Phen. At least 8 variants identified in unrelated cases
Clefting v1.45 PLEKHA7 Catherine Snow commented on gene: PLEKHA7: PMID: 29805042 Cox et al. Identified PLEKHA7 as a potential gene in a cohort of 72 multi generational families with cleft lip with or without cleft palate. 1 pathogenic variant was identified in one family. Further analysis of 497 individuals identified a further pathogenic variant and another variant of unknown significance both variants were found in the same family. PLEKHA7 has no phenotypes associated in OMIM or disease association in Gene2Phenotype.
Likely inborn error of metabolism v1.254 ALDH3A2 Sarah Leigh reviewed gene: ALDH3A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 10792573, 10577908; Phenotypes: Sjogren-Larsson syndrome 270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.254 ALAS2 Sarah Leigh edited their review of gene: ALAS2: Added comment: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with phenotype in OMIM and not in Gen2Phen. At least 18 variants identified in Anemia, sideroblastic, 1 300751 and two variants in Protoporphyria, erythropoietic, X-linked 300752 in six unrelated families, together with functional studies.; Changed rating: GREEN; Changed publications: 27604308, 1570328, 7560104, 12663458, 18760763; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Likely inborn error of metabolism v1.254 ADSL Sarah Leigh reviewed gene: ADSL: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 18830228, 12016589, 10090474; Phenotypes: Adenylosuccinase deficiency 103050, Intellectual disability, Epileptic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.254 ADA Sarah Leigh reviewed gene: ADA: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 3684597, 2783588, 1680289; Phenotypes: Adenosine deaminase deficiency, partial 102700, Severe combined immunodeficiency due to ADA deficiency 102700, Combined B and T cell defect, SCID, Infantile enterocolitis & monogenic inflammatory bowel disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.254 ACY1 Sarah Leigh reviewed gene: ACY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 24117009, 17562838, 16465618; Phenotypes: Aminoacylase 1 deficiency 609924, Intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.254 ABHD12 Sarah Leigh reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 20797687, 24697911 ; Phenotypes: Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 612674, Hereditary ataxia, Posterior segment abnormalities, Congenital hearing impairment (profound/severe), PHARC syndrome (Disorders of complex lipid synthesis); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.254 ABCG8 Sarah Leigh reviewed gene: ABCG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 11452359, 15996216, 11099417, 22981120; Phenotypes: Sitosterolemia 210250, Familial hypercholesterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.254 ABCG5 Sarah Leigh reviewed gene: ABCG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 27604308, 11099417, 11138003, 20719861, 17976197; Phenotypes: Sitosterolemia 210250, Familial hypercholesterolaemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Clefting v1.45 PLEKHA7 Catherine Snow gene: PLEKHA7 was added
gene: PLEKHA7 was added to Clefting. Sources: Expert list
Mode of inheritance for gene: PLEKHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PLEKHA7 were set to 29805042
Phenotypes for gene: PLEKHA7 were set to cleft lip
Review for gene: PLEKHA7 was set to AMBER
Added comment: Gene suggested for the panel by Andrew Wilkie, Oxford University Hospitals NHS Foundation Trust
Sources: Expert list
Mitochondrial disorders v1.485 USMG5 Sarah Leigh Tag founder-effect tag was added to gene: USMG5.
Mitochondrial disorders v1.485 USMG5 Sarah Leigh edited their review of gene: USMG5: Changed rating: AMBER
Mitochondrial disorders v1.485 IARS Sarah Leigh edited their review of gene: IARS: Changed rating: AMBER
Mitochondrial disorders v1.485 PLA2G6 Sarah Leigh edited their review of gene: PLA2G6: Changed rating: AMBER
Undiagnosed metabolic disorders v1.255 PSPH Sarah Leigh Added comment: Comment on phenotypes: Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism)
Undiagnosed metabolic disorders v1.255 PSPH Sarah Leigh Phenotypes for gene: PSPH were changed from Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism); Intellectual disability; Unexplained skeletal dysplasia to Phosphoserine phosphatase deficiency 614023
Likely inborn error of metabolism v1.253 PSPH Sarah Leigh Added comment: Comment on phenotypes: Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism)
Likely inborn error of metabolism v1.253 PSPH Sarah Leigh Phenotypes for gene: PSPH were changed from Intellectual disability; Phosphoserine phosphatase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia to Phosphoserine phosphatase deficiency 614023
Undiagnosed metabolic disorders v1.254 PSPH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.254 PSPH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.254 PSPH Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.252 PSAT1 Sarah Leigh Classified gene: PSAT1 as Green List (high evidence)
Likely inborn error of metabolism v1.252 PSAT1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for ?Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038. At least 5 variants reported in 6 cases of Neu-Laxova syndrome 2 616038 and 2 variants in a case of ?Phosphoserine aminotransferase deficiency 610992.
Likely inborn error of metabolism v1.252 PSAT1 Sarah Leigh Gene: psat1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.254 PSAT1 Sarah Leigh Classified gene: PSAT1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.254 PSAT1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for ?Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038. At least 5 variants reported in 6 cases of Neu-Laxova syndrome 2 616038 and 2 variants in a case of ?Phosphoserine aminotransferase deficiency 610992.
Undiagnosed metabolic disorders v1.254 PSAT1 Sarah Leigh Gene: psat1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.251 PSAT1 Sarah Leigh Publications for gene: PSAT1 were set to 27604308
Undiagnosed metabolic disorders v1.253 PSAT1 Sarah Leigh Publications for gene: PSAT1 were set to 27604308
Likely inborn error of metabolism v1.250 PSAT1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism)
Likely inborn error of metabolism v1.250 PSAT1 Sarah Leigh Phenotypes for gene: PSAT1 were changed from Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia to ?Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038
Undiagnosed metabolic disorders v1.252 PSAT1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism)
Undiagnosed metabolic disorders v1.252 PSAT1 Sarah Leigh Phenotypes for gene: PSAT1 were changed from Phosphoserine aminotransferase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia to ?Phosphoserine aminotransferase deficiency 610992; Neu-Laxova syndrome 2 616038
Undiagnosed metabolic disorders v1.251 PSAT1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.249 PRPS1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism)
Likely inborn error of metabolism v1.249 PRPS1 Sarah Leigh Phenotypes for gene: PRPS1 were changed from Intellectual disability; Charcot-Marie-Tooth disease; Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism); Congenital hearing impairment (profound/severe); Intellectual_disability to Arts syndrome 301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 311070; Deafness, X-linked 1 304500; Gout, PRPS-related 300661; Phosphoribosylpyrophosphate synthetase superactivity 300661
Likely inborn error of metabolism v1.248 PRPS1 Sarah Leigh Classified gene: PRPS1 as Green List (high evidence)
Likely inborn error of metabolism v1.248 PRPS1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Arts syndrome 301835, Charcot-Marie-Tooth disease, X-linked recessive, 5 311070, Deafness, X-linked 1 304500 and Phosphoribosylpyrophosphate synthetase superactivity 300661. At least 22 variants have been reported across the phenotypes.
Likely inborn error of metabolism v1.248 PRPS1 Sarah Leigh Gene: prps1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.251 PRPS1 Sarah Leigh Classified gene: PRPS1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.251 PRPS1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Arts syndrome 301835, Charcot-Marie-Tooth disease, X-linked recessive, 5 311070, Deafness, X-linked 1 304500 and Phosphoribosylpyrophosphate synthetase superactivity 300661. At least 22 variants have been reported across the phenotypes.
Undiagnosed metabolic disorders v1.251 PRPS1 Sarah Leigh Gene: prps1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.250 PRPS1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism)
Undiagnosed metabolic disorders v1.250 PRPS1 Sarah Leigh Phenotypes for gene: PRPS1 were changed from Phosphoribosyl pyrophosphate synthetase 1 defects (Disorders of purine metabolism); Charcot-Marie-Tooth disease; Congenital hearing impairment (profound/severe); Intellectual disability; Intellectual_disability to Arts syndrome 301835; Charcot-Marie-Tooth disease, X-linked recessive, 5 311070; Deafness, X-linked 1 304500; Gout, PRPS-related 300661; Phosphoribosylpyrophosphate synthetase superactivity 300661
Likely inborn error of metabolism v1.247 PRPS1 Sarah Leigh Mode of inheritance for gene: PRPS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Undiagnosed metabolic disorders v1.249 PRPS1 Sarah Leigh Mode of inheritance for gene: PRPS1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Primary lymphoedema v1.105 MPI Sarah Leigh changed review comment from: PMI is old gene name (15q24.1-.2) is associated with Congenital disorder of glycosylation, type Ib 602579, which includes lymphangiectasia. The gene submitted on expert list was PM1 (new gene name TMEM11 (17p11.1), this is not on OMIM and not associated with condition on G2P).; to: PMI is old gene name (15q24.1-.2) is associated with Congenital disorder of glycosylation, type Ib 602579, which includes lymphangiectasia. The gene submitted on expert list was PM1 (new gene name TMEM11 (17p11.1), this is not on OMIM and not associated with a condition on G2P).
Primary lymphoedema v1.105 MPI Sarah Leigh changed review comment from: PMI is old gene name ( 15q24.1-.2) is associated with Congenital disorder of glycosylation, type Ib 602579, which includes lymphangiectasia. The gene submitted on expert list was PM1 (new gene name TMEM11 (17p11.1), this is not on OMIM and not associated with condition on G2P).; to: PMI is old gene name (15q24.1-.2) is associated with Congenital disorder of glycosylation, type Ib 602579, which includes lymphangiectasia. The gene submitted on expert list was PM1 (new gene name TMEM11 (17p11.1), this is not on OMIM and not associated with condition on G2P).
Cytopenia - NOT Fanconi anaemia v0.119 Louise Daugherty List of related panels changed from to R91
Primary lymphoedema v1.105 CELSR1 Sarah Leigh Penetrance for gene CELSR1 was set from to None
Primary lymphoedema v1.104 CELSR1 Sarah Leigh Classified gene: CELSR1 as Green List (high evidence)
Primary lymphoedema v1.104 CELSR1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 7 variants reported, showing incomplete penetrance, whereby male carries did not manifest with lymphoedema except in later life (PMID 31215153).
Primary lymphoedema v1.104 CELSR1 Sarah Leigh Gene: celsr1 has been classified as Green List (High Evidence).
Primary lymphoedema v1.103 CELSR1 Sarah Leigh gene: CELSR1 was added
gene: CELSR1 was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CELSR1 were set to 31403174; 26855770; 31215153
Phenotypes for gene: CELSR1 were set to hereditary lymphedema
Review for gene: CELSR1 was set to GREEN
Added comment: Sources: Expert list
Thrombophilia with a likely monogenic cause v0.40 Louise Daugherty List of related panels changed from to R97
Rare anaemia v0.77 Louise Daugherty List of related panels changed from to R92
Iron metabolism disorders - NOT common HFE mutations v0.54 Louise Daugherty List of related panels changed from to R96
Primary lymphoedema v1.102 CHD7 Sarah Leigh Publications for gene: CHD7 were set to
Primary lymphoedema v1.101 CHD7 Sarah Leigh Added comment: Comment on phenotypes: Variants are also associated with Hypogonadotropic hypogonadism 5 with or without anosmia 612370, but this is not relevant to this panel.
Primary lymphoedema v1.101 CHD7 Sarah Leigh Phenotypes for gene: CHD7 were changed from CHARGE syndrome 214800 to CHARGE syndrome 214800
Primary lymphoedema v1.100 CHD7 Sarah Leigh Classified gene: CHD7 as Green List (high evidence)
Primary lymphoedema v1.100 CHD7 Sarah Leigh Gene: chd7 has been classified as Green List (High Evidence).
Primary lymphoedema v1.99 CHD7 Sarah Leigh gene: CHD7 was added
gene: CHD7 was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CHD7 were set to CHARGE syndrome 214800
Review for gene: CHD7 was set to GREEN
Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for CHARGE syndrome 214800. At least 14 variants reported associated with CHARGE syndrome 214800.
Sources: Expert list
Primary lymphoedema v1.98 Sarah Leigh removed gene:CDH7 from the panel
Fanconi anaemia or Bloom syndrome v0.28 Louise Daugherty List of related panels changed from to R229
Combined factor V and VIII deficiency v0.22 Louise Daugherty List of related panels changed from to R124
Inherited predisposition to acute myeloid leukaemia (AML) v0.47 Louise Daugherty List of related panels changed from to R347
Bleeding and platelet disorders v0.77 COL5A2 Louise Daugherty commented on gene: COL5A2: The Specialist Test Group discussed the inclusion of EDS genes on this panel and if included, what rating they should be. EDS genes are currently all rated as Amber until further discussion with EDS experts
Bleeding and platelet disorders v0.77 COL5A1 Louise Daugherty commented on gene: COL5A1: The Specialist Test Group discussed the inclusion of EDS genes on this panel and if included, what rating they should be. EDS genes are currently all rated as Amber until further discussion with EDS experts
Bleeding and platelet disorders v0.77 CHST14 Louise Daugherty commented on gene: CHST14: The Specialist Test Group discussed the inclusion of EDS genes on this panel and if included, what rating they should be. EDS genes are currently all rated as Amber until further discussion with EDS experts
Bleeding and platelet disorders v0.77 COL3A1 Louise Daugherty commented on gene: COL3A1: The Specialist Test Group discussed the inclusion of EDS genes on this panel and if included, what rating they should be. EDS genes are currently all rated as Amber until further discussion with EDS experts
Bleeding and platelet disorders v0.77 COL1A1 Louise Daugherty commented on gene: COL1A1: The Specialist Test Group discussed the inclusion of EDS genes on this panel and if included, what rating they should be. EDS genes are currently all rated as Amber until further discussion with EDS experts
Bleeding and platelet disorders v0.77 TNXB Louise Daugherty changed review comment from: Added to panel from suggestion from Neeti Ghali in view of including EDS genes on the R60 panel. TNXB is another (AR) EDS type presenting with significant bruising/haematomas, but again, other features are usually present. To be discussed further as to the rating and in view of the other EDS genes on this panel (COL1A1, COL3A1, COL5A1, COL5A2, CHST14)
Sources: Expert Review; to: Added to panel from suggestion from Neeti Ghali in view of including EDS genes on the R60 panel. TNXB is another (AR) EDS type presenting with significant bruising/haematomas, but again, other features are usually present. To be discussed further with Haematology Test Group as to the rating and in view of the other EDS genes on this panel (COL1A1, COL3A1, COL5A1, COL5A2, CHST14)
Sources: Expert Review
Bleeding and platelet disorders v0.77 ETV6 Louise Daugherty Deleted their comment
Mitochondrial disorders v1.485 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. 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). ; to: Associated with relevant phenotype in OMIM and as a both DD and IF Gen2Phen gene. 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). 
Bleeding and platelet disorders v0.77 TNXB Louise Daugherty Publications for gene: TNXB were set to
Bleeding and platelet disorders v0.76 TNXB Louise Daugherty Classified gene: TNXB as Amber List (moderate evidence)
Bleeding and platelet disorders v0.76 TNXB Louise Daugherty Gene: tnxb has been classified as Amber List (Moderate Evidence).
Bleeding and platelet disorders v0.75 TNXB Louise Daugherty Classified gene: TNXB as No list
Bleeding and platelet disorders v0.75 TNXB Louise Daugherty Gene: tnxb has been removed from the panel.
Bleeding and platelet disorders v0.74 TNXB Louise Daugherty gene: TNXB was added
gene: TNXB was added to Bleeding and platelet disorders. Sources: Expert Review
Mode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNXB were set to Ehlers-Danlos syndrome due to tenascin X deficiency, 606408; significant bruising/haematomas
Review for gene: TNXB was set to AMBER
Added comment: Added to panel from suggestion from Neeti Ghali in view of including EDS genes on the R60 panel. TNXB is another (AR) EDS type presenting with significant bruising/haematomas, but again, other features are usually present. To be discussed further as to the rating and in view of the other EDS genes on this panel (COL1A1, COL3A1, COL5A1, COL5A2, CHST14)
Sources: Expert Review
Bleeding and platelet disorders v0.73 Louise Daugherty List of related panels changed from to R90
Laterality disorders and isomerism v0.42 Louise Daugherty List of related panels changed from to R139
Pneumothorax - familial v1.17 Louise Daugherty List of related panels changed from Familial Pneumothorax; Familial Primary Spontaneous Pneumothorax to Familial Pneumothorax; Familial Primary Spontaneous Pneumothorax; R190
Respiratory ciliopathies including non-CF bronchiectasis v0.151 Louise Daugherty List of related panels changed from to R189
Primary immunodeficiency or monogenic inflammatory bowel disease v1.54 Louise Daugherty List of related panels changed from Primary immunodeficiency disorders; A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection to Primary immunodeficiency disorders; A- or hypo-gammaglobulinaemia; Congenital neutropaenia; Agranulocytosis; Combined B and T cell defect; Inherited complement deficiency; SCID; Primary immune disorder; Primary immunodeficiency; A-gammaglobulinaemia; Agammaglobulinaemia; hypo-gammaglobulinaemia; hypogammaglobulinemia; immune deficiency syndromes; Severe combined immunodeficiency; Congenital neutopenia; Familial haemophagocytic lymphohistiocytic disorders; Familial hemophagocytic lymphohistiocytic disorders; PID; Sepsis; Disseminated non-tuberculous mycobacterial infection; R15
Likely inborn error of metabolism v1.246 GATC Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.246 GATC Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.246 GATC Sarah Leigh Classified gene: GATC as Amber List (moderate evidence)
Likely inborn error of metabolism v1.246 GATC Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.
Likely inborn error of metabolism v1.246 GATC Sarah Leigh Gene: gatc has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.245 GATC Sarah Leigh Classified gene: GATC as Amber List (moderate evidence)
Likely inborn error of metabolism v1.245 GATC Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.
Likely inborn error of metabolism v1.245 GATC Sarah Leigh Gene: gatc has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.245 GATC Sarah Leigh Classified gene: GATC as Amber List (moderate evidence)
Likely inborn error of metabolism v1.245 GATC Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.
Likely inborn error of metabolism v1.245 GATC Sarah Leigh Gene: gatc has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.485 GATC Sarah Leigh Classified gene: GATC as Amber List (moderate evidence)
Mitochondrial disorders v1.485 GATC Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.
Mitochondrial disorders v1.485 GATC Sarah Leigh Gene: gatc has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.244 GATC Sarah Leigh Publications for gene: GATC were set to
Mitochondrial disorders v1.484 GATC Sarah Leigh Publications for gene: GATC were set to
Mitochondrial disorders v1.483 GATB Sarah Leigh Publications for gene: GATB were set to
Mitochondrial disorders v1.482 GATB Sarah Leigh Classified gene: GATB as Amber List (moderate evidence)
Mitochondrial disorders v1.482 GATB Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition.
Mitochondrial disorders v1.482 GATB Sarah Leigh Gene: gatb has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.248 ATP5A1 Sarah Leigh Publications for gene: ATP5A1 were set to 27604308
Undiagnosed metabolic disorders v1.247 ATP5A1 Sarah Leigh Classified gene: ATP5A1 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.247 ATP5A1 Sarah Leigh Added comment: Comment on list classification: Two variants together with functional studies. The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Undiagnosed metabolic disorders v1.247 ATP5A1 Sarah Leigh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v1.0 ATP5A1 Sarah Leigh reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Likely inborn error of metabolism v1.243 ATP5A1 Sarah Leigh Classified gene: ATP5A1 as Amber List (moderate evidence)
Likely inborn error of metabolism v1.243 ATP5A1 Sarah Leigh Added comment: Comment on list classification: The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Likely inborn error of metabolism v1.243 ATP5A1 Sarah Leigh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.481 ATP5A1 Sarah Leigh Classified gene: ATP5A1 as Amber List (moderate evidence)
Mitochondrial disorders v1.481 ATP5A1 Sarah Leigh Added comment: Comment on list classification: The Amber rating is based on the views of Anna de Burca (Genomics England Clinical Fellow) that the interpretation of PMID 23599390 that the boys have inherited a heterozygous variant from their father while not expressing the maternal allele due to unknown variant affecting expression.
Mitochondrial disorders v1.481 ATP5A1 Sarah Leigh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder, nuclear genes v1.2 ATP5A1 Sarah Leigh reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Respiratory ciliopathies including non-CF bronchiectasis v0.150 TTC25 Matthew Edwards reviewed gene: TTC25: Rating: GREEN; Mode of pathogenicity: None; Publications: 27486780; Phenotypes: Ciliary dyskinesia, primary, 35; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Laterality disorders and isomerism v0.41 RSPH4A Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 RSPH9 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 RSPH9 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 RSPH3 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 RSPH1 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 GAS8 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 DRC1 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 CCNO Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 CCDC65 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 HYDIN Louise Daugherty changed review comment from: FFrom GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: FFrom GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Laterality disorders and isomerism v0.41 DNAJB13 Louise Daugherty changed review comment from: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSP4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.; to: From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : Hannah Mitchison commented that a subset of PCD genes (DNAJB13, HYDIN, CCDC65, CCNO, DRC1, GAS8, RSPH1, RSPH3, RSPH9, RSPH4A) are NOT associated with laterality disorders and should therefore be red on this panel. Hannah Mitchison to follow up with reference/confirm genes that should be downgraded to Red from Green. However, it was further noted that CCDC65 should be Amber on this panel, as other genes in this family are reliably associated with laterality defects and therefore this may reflect a lack of evidence in this case.
Clefting v1.44 ALX1 Catherine Snow Classified gene: ALX1 as Amber List (moderate evidence)
Clefting v1.44 ALX1 Catherine Snow Added comment: Comment on list classification: Changed to Amber based on Eleanor Williams review.
Clefting v1.44 ALX1 Catherine Snow Gene: alx1 has been classified as Amber List (Moderate Evidence).
Clefting v1.43 EIF4A3 Catherine Snow reviewed gene: EIF4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 10594883, 29922329, 29112243; Phenotypes: Robin sequence with cleft mandible and limb anomalies, 268305, Richieri-Costa-Pereira syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Pulmonary arterial hypertension v1.48 Louise Daugherty List of related panels changed from PAH to PAH; R188
Hereditary haemorrhagic telangiectasia v1.51 Louise Daugherty List of related panels changed from Familial and multiple pulmonary arteriovenous malformations to Familial and multiple pulmonary arteriovenous malformations; R186
Clefting v1.43 BMP2 Catherine Snow Phenotypes for gene: BMP2 were changed from Cleft palate to Cleft palate; Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877
Clefting v1.42 BMP2 Catherine Snow Publications for gene: BMP2 were set to
Clefting v1.41 BMP2 Catherine Snow Mode of inheritance for gene: BMP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Clefting v1.40 BMP2 Catherine Snow Classified gene: BMP2 as Green List (high evidence)
Clefting v1.40 BMP2 Catherine Snow Gene: bmp2 has been classified as Green List (High Evidence).
Clefting v1.39 BMP2 Catherine Snow reviewed gene: BMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 21671386, 29198724; Phenotypes: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.246 PRPS1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.242 POR Sarah Leigh Publications for gene: POR were set to 27604308
Undiagnosed metabolic disorders v1.246 POR Sarah Leigh Publications for gene: POR were set to 27604308
Undiagnosed metabolic disorders v1.245 POR Sarah Leigh Classified gene: POR as Green List (high evidence)
Undiagnosed metabolic disorders v1.245 POR Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants associated with Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 and 6 variants associated with Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571.
Undiagnosed metabolic disorders v1.245 POR Sarah Leigh Gene: por has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.241 POR Sarah Leigh Classified gene: POR as Green List (high evidence)
Likely inborn error of metabolism v1.241 POR Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants associated with Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 and 6 variants associated with Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571.
Likely inborn error of metabolism v1.241 POR Sarah Leigh Gene: por has been classified as Green List (High Evidence).
Mitochondrial disorders v1.480 SPATA5 Sarah Leigh Publications for gene: SPATA5 were set to PMID: 27246907; 29343804; 26299366
Mitochondrial disorders v1.479 SPATA5 Sarah Leigh Classified gene: SPATA5 as Amber List (moderate evidence)
Mitochondrial disorders v1.479 SPATA5 Sarah Leigh Added comment: Comment on list classification: This gene is being rated as amber as it has not been reviewed as green by the GMS Mitochondrial specialist test group.
Mitochondrial disorders v1.479 SPATA5 Sarah Leigh Gene: spata5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.256 SPATA5 Sarah Leigh Publications for gene: SPATA5 were set to PMID: 27246907; 29343804; 26299366
Early onset or syndromic epilepsy v1.255 SPATA5 Sarah Leigh Classified gene: SPATA5 as Green List (high evidence)
Early onset or syndromic epilepsy v1.255 SPATA5 Sarah Leigh Added comment: Comment on list classification: Based on review from Rachel Jones (GSTT): Tanaka et al PMID: 26299366 identified "14 individuals [from 10 families] with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants" in SPATA5 Puussep et al PMID: 29343804 describes 5 further patients "with psychomotor developmental delay, microcephaly, epilepsy and hearing impairment, who were thought clinically to have a mitochondrial disease with subsequent whole-exome sequencing analysis detecting compound heterozygous variants in the SPATA5 gene" Szczaluba et al PMID: 28293831 describes a family where a sibling has isolated sensorineural hearing loss and the same two pathogenic SPATA5 variants as her more typically affected sister. In addition, typically affected individuals may present as congenital SNHL on newborn hearing screen prior to onset of seizures, microcephaly and intellectual disability.
Early onset or syndromic epilepsy v1.255 SPATA5 Sarah Leigh Gene: spata5 has been classified as Green List (High Evidence).
Familial pulmonary fibrosis v1.6 PARN Louise Daugherty Added comment: Comment on publications: added new PMID as advised by external reivew
Familial pulmonary fibrosis v1.6 PARN Louise Daugherty Publications for gene: PARN were set to 25848748
Possible mitochondrial disorder, nuclear genes v1.2 PITRM1 Sarah Leigh commented on gene: PITRM1: Based on publications pmids 29764912; 26697887; 29383861
Mitochondrial disorders v1.478 PITRM1 Sarah Leigh edited their review of gene: PITRM1: Added comment: Based on publications pmids 29764912; 26697887; 29383861; Changed rating: GREEN
Mitochondrial disorders v1.478 PITRM1 Sarah Leigh Classified gene: PITRM1 as Amber List (moderate evidence)
Mitochondrial disorders v1.478 PITRM1 Sarah Leigh Added comment: Comment on list classification: This gene is being demoted to amber as it has not been reviewed as green by the GMS Mitochondrial specialist test group.
Mitochondrial disorders v1.478 PITRM1 Sarah Leigh Gene: pitrm1 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.240 PITRM1 Sarah Leigh Classified gene: PITRM1 as Amber List (moderate evidence)
Likely inborn error of metabolism v1.240 PITRM1 Sarah Leigh Added comment: Comment on list classification: This gene is being demoted to amber as it has not been reviewed as green by the GMS Mitochondrial specialist test group.
Likely inborn error of metabolism v1.240 PITRM1 Sarah Leigh Gene: pitrm1 has been classified as Amber List (Moderate Evidence).
Severe microcephaly v1.72 UFC1 Louise Daugherty Added comment: Comment on publications: review from Geoff Woods: 5 families reported in PMID 30552426 and 29868776
Severe microcephaly v1.72 UFC1 Louise Daugherty Publications for gene: UFC1 were set to 26917597
Likely inborn error of metabolism v1.239 POR Sarah Leigh Phenotypes for gene: POR were changed from Antley-Bixler syndrome with disordered steroidogenesis; Unexplained skeletal dysplasia; Disorders of sex development; Craniosynostosis syndromes phenotypes to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Undiagnosed metabolic disorders v1.244 POR Sarah Leigh Phenotypes for gene: POR were changed from Antley-Bixler syndrome with disordered steroidogenesis; Craniosynostosis syndromes phenotypes; Disorders of sex development; Unexplained skeletal dysplasia to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Undiagnosed metabolic disorders v1.243 POR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.243 POR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.243 POR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.243 POR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.243 POR Sarah Leigh Deleted their comment
Severe microcephaly v1.71 ZNHIT3 Louise Daugherty Publications for gene: ZNHIT3 were set to
Likely inborn error of metabolism v1.238 PNP Sarah Leigh Publications for gene: PNP were set to 27604308; 3029074; 1384322; 9067751; 8931706; 9737781; 11453975
Severe microcephaly v1.70 PCLO Louise Daugherty Publications for gene: PCLO were set to
Likely inborn error of metabolism v1.238 PNP Sarah Leigh Publications for gene: PNP were set to 27604308
Likely inborn error of metabolism v1.237 PNP Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.243 PNP Sarah Leigh Publications for gene: PNP were set to 27604308
Severe microcephaly v1.69 UBA5 Louise Daugherty Publications for gene: UBA5 were set to
Likely inborn error of metabolism v1.237 PNP Sarah Leigh Classified gene: PNP as Green List (high evidence)
Likely inborn error of metabolism v1.237 PNP Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants reported.
Likely inborn error of metabolism v1.237 PNP Sarah Leigh Gene: pnp has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.237 PNP Sarah Leigh Classified gene: PNP as Green List (high evidence)
Likely inborn error of metabolism v1.237 PNP Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants reported.
Likely inborn error of metabolism v1.237 PNP Sarah Leigh Gene: pnp has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.242 PNP Sarah Leigh Classified gene: PNP as Green List (high evidence)
Undiagnosed metabolic disorders v1.242 PNP Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 10 variants reported.
Undiagnosed metabolic disorders v1.242 PNP Sarah Leigh Gene: pnp has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.241 PNP Sarah Leigh Added comment: Comment on phenotypes: Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism);SCID
Undiagnosed metabolic disorders v1.241 PNP Sarah Leigh Phenotypes for gene: PNP were changed from Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism); SCID to Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
Likely inborn error of metabolism v1.236 PNP Sarah Leigh Added comment: Comment on phenotypes: SCID;Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism)
Likely inborn error of metabolism v1.236 PNP Sarah Leigh Phenotypes for gene: PNP were changed from SCID; Purine nucleoside phosphorylase deficiency (Disorders of purine metabolism) to Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179
Undiagnosed metabolic disorders v1.240 PNP Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.235 PINK1 Sarah Leigh Classified gene: PINK1 as Green List (high evidence)
Likely inborn error of metabolism v1.235 PINK1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 12 variants were reported.
Likely inborn error of metabolism v1.235 PINK1 Sarah Leigh Gene: pink1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.240 PINK1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.240 PINK1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.240 PINK1 Sarah Leigh Classified gene: PINK1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.240 PINK1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 12 variants were reported.
Undiagnosed metabolic disorders v1.240 PINK1 Sarah Leigh Gene: pink1 has been classified as Green List (High Evidence).
Severe microcephaly v1.68 UFC1 Louise Daugherty Publications for gene: UFC1 were set to
Mitochondrial disorders v1.477 SPATA5 Rachel Jones gene: SPATA5 was added
gene: SPATA5 was added to Mitochondrial disorders. Sources: Literature
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to PMID: 27246907; 29343804; 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome 616577
Penetrance for gene: SPATA5 were set to Complete
Review for gene: SPATA5 was set to GREEN
Added comment: Greater than 15 families have been identified in multiple publications showing that patients with SPATA5 biallelic variants present with intellectual disability, epilepsy, microcephaly and hearing loss, as well as cortical blindness, spasticity and feeding problems; and prior to the gene being discovered to cause the phenotype in these families patients were often thought to have a mitochondrial disorder.

As per Puusepp et al (PMID: 29343804) functional studies were performed on rat cortical neurons. "SPATA5-deficient neurons had a significant imbalance in the mitochondrial fusion-fission rate, impaired energy production and short axons. In conclusion, SPATA5 protein has an important role in mitochondrial dynamics and axonal growth. Biallelic variants in the SPATA5 gene can affect mitochondria in cortical neurons and should be considered in patients with a neurodegenerative disorder and/or with clinical presentation resembling a mitochondrial disorder."
Sources: Literature
Likely inborn error of metabolism v1.234 PINK1 Sarah Leigh Added comment: Comment on publications: Many more publications
Likely inborn error of metabolism v1.234 PINK1 Sarah Leigh Publications for gene: PINK1 were set to 27604308
Undiagnosed metabolic disorders v1.239 PINK1 Sarah Leigh Added comment: Comment on publications: Many more publications
Undiagnosed metabolic disorders v1.239 PINK1 Sarah Leigh Publications for gene: PINK1 were set to 27604308
Likely inborn error of metabolism v1.233 PINK1 Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Likely inborn error of metabolism v1.233 PINK1 Sarah Leigh Phenotypes for gene: PINK1 were changed from Early onset dystonia; Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Parkinson Disease and Complex Parkinsonism to Parkinson disease 6, early onset 605909
Undiagnosed metabolic disorders v1.238 PINK1 Sarah Leigh Added comment: Comment on phenotypes: Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Undiagnosed metabolic disorders v1.238 PINK1 Sarah Leigh Phenotypes for gene: PINK1 were changed from Parkinson disease 6, early onset (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Early onset dystonia; Parkinson Disease and Complex Parkinsonism to Parkinson disease 6, early onset 605909
Undiagnosed metabolic disorders v1.237 PINK1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.237 PINK1 Sarah Leigh Deleted their comment
Early onset or syndromic epilepsy v1.254 SPATA5 Rachel Jones gene: SPATA5 was added
gene: SPATA5 was added to Genetic epilepsy syndromes. Sources: Other
Mode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPATA5 were set to PMID: 27246907; 29343804; 26299366
Phenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome 616577
Penetrance for gene: SPATA5 were set to Incomplete
Review for gene: SPATA5 was set to GREEN
Added comment: Greater than 15 families have been identified in multiple publications showing that patients with SPATA5 biallelic variants present with intellectual disability, epilepsy, microcephaly and hearing loss. May present as epileptic encephalopathy/epilepsy in the first year of life prior to onset of obvious developmental delay.
Sources: Other
Likely inborn error of metabolism v1.232 PIGM Sarah Leigh Classified gene: PIGM as Amber List (moderate evidence)
Likely inborn error of metabolism v1.232 PIGM Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775).
Likely inborn error of metabolism v1.232 PIGM Sarah Leigh Gene: pigm has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.231 PIGM Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.231 PIGM Sarah Leigh Classified gene: PIGM as Amber List (moderate evidence)
Likely inborn error of metabolism v1.231 PIGM Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775).
Likely inborn error of metabolism v1.231 PIGM Sarah Leigh Gene: pigm has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.231 PIGM Sarah Leigh Classified gene: PIGM as Amber List (moderate evidence)
Likely inborn error of metabolism v1.231 PIGM Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775).
Likely inborn error of metabolism v1.231 PIGM Sarah Leigh Gene: pigm has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.237 PIGM Sarah Leigh Classified gene: PIGM as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.237 PIGM Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 1 variant was reported in 2 unrelated families (PMID 16767100), together with supportive functional studies (PMID 17442906 & 25293775).
Undiagnosed metabolic disorders v1.237 PIGM Sarah Leigh Gene: pigm has been classified as Amber List (Moderate Evidence).
Clefting v1.39 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; Component Of Super Panel
Likely inborn error of metabolism v1.230 PIGM Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906
Likely inborn error of metabolism v1.230 PIGM Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775; 17442906; 25293775
Likely inborn error of metabolism v1.229 PIGM Sarah Leigh Publications for gene: PIGM were set to 27604308; 16767100; 25293775
Undiagnosed metabolic disorders v1.236 PIGM Sarah Leigh Publications for gene: PIGM were set to 27604308; 25293775; 16767100
Paediatric disorders v3.883 Ellen McDonagh Changed child panels to: Intellectual disability; Inborn errors of metabolism; Skeletal dysplasia; DDG2P; Limb disorders; Clefting; Paediatric disorders - additional genes; Skeletal ciliopathies; Ophthalmological ciliopathies; Neurological ciliopathies; Renal ciliopathies
Likely inborn error of metabolism v1.228 PIGM Sarah Leigh Added comment: Comment on phenotypes: Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation;Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Likely inborn error of metabolism v1.228 PIGM Sarah Leigh Phenotypes for gene: PIGM were changed from Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation; Glycosylphosphatidylinositol deficiency, 610293; Glycosylphosphatidylinositol deficiency 610293; Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency to Glycosylphosphatidylinositol deficiency 610293
Undiagnosed metabolic disorders v1.235 PIGM Sarah Leigh Added comment: Comment on phenotypes: Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation;Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Undiagnosed metabolic disorders v1.235 PIGM Sarah Leigh Phenotypes for gene: PIGM were changed from Phosphatidylinositolglycan, class M deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation); Glycosylphosphatidylinositol deficiency 610293 to Glycosylphosphatidylinositol deficiency 610293
Likely inborn error of metabolism v1.227 PHGDH Sarah Leigh Publications for gene: PHGDH were set to 27604308; 24816252
Undiagnosed metabolic disorders v1.234 PHGDH Sarah Leigh Publications for gene: PHGDH were set to 27604308; 24816252
Likely inborn error of metabolism v1.226 PHGDH Sarah Leigh Classified gene: PHGDH as Green List (high evidence)
Likely inborn error of metabolism v1.226 PHGDH Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both phenotypes. At least 6 variants reported in 6 unrelated cases of Phosphoglycerate dehydrogenase deficiency 601815 and 4 variants reported in 4 unrelated cases of Neu-Laxova syndrome 1 256520.
Likely inborn error of metabolism v1.226 PHGDH Sarah Leigh Gene: phgdh has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.233 PHGDH Sarah Leigh Classified gene: PHGDH as Green List (high evidence)
Undiagnosed metabolic disorders v1.233 PHGDH Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both phenotypes. At least 6 variants reported in 6 unrelated cases of Phosphoglycerate dehydrogenase deficiency 601815 and 4 variants reported in 4 unrelated cases of Neu-Laxova syndrome 1 256520.
Undiagnosed metabolic disorders v1.233 PHGDH Sarah Leigh Gene: phgdh has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.225 PHGDH Sarah Leigh Added comment: Comment on phenotypes: Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism)
Likely inborn error of metabolism v1.225 PHGDH Sarah Leigh Phenotypes for gene: PHGDH were changed from Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815 to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Likely inborn error of metabolism v1.225 PHGDH Sarah Leigh Added comment: Comment on phenotypes: Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism)
Likely inborn error of metabolism v1.225 PHGDH Sarah Leigh Phenotypes for gene: PHGDH were changed from Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism); Unexplained skeletal dysplasia; Intellectual disability to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Undiagnosed metabolic disorders v1.232 PHGDH Sarah Leigh Added comment: Comment on phenotypes: Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism)
Undiagnosed metabolic disorders v1.232 PHGDH Sarah Leigh Phenotypes for gene: PHGDH were changed from Phosphoglycerate dehydrogenase deficiency (Disorders of serine, glycine or glycerate metabolism); Intellectual disability; Unexplained skeletal dysplasia to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Undiagnosed metabolic disorders v1.231 PHGDH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.231 PHGDH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.231 PHGDH Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.224 PEPD Sarah Leigh Publications for gene: PEPD were set to 27604308; 2365824; 2365824; 8198124; 15309682; 16470701
Likely inborn error of metabolism v1.223 PEPD Sarah Leigh Publications for gene: PEPD were set to 27604308; 2365824; 2365824; 8198124; 15309682; 16470701
Likely inborn error of metabolism v1.223 PEPD Sarah Leigh Publications for gene: PEPD were set to 27604308
Undiagnosed metabolic disorders v1.231 PEPD Sarah Leigh Publications for gene: PEPD were set to 27604308
Likely inborn error of metabolism v1.222 PEPD Sarah Leigh Classified gene: PEPD as Green List (high evidence)
Likely inborn error of metabolism v1.222 PEPD Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported.
Likely inborn error of metabolism v1.222 PEPD Sarah Leigh Gene: pepd has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.222 PEPD Sarah Leigh Classified gene: PEPD as Green List (high evidence)
Likely inborn error of metabolism v1.222 PEPD Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported.
Likely inborn error of metabolism v1.222 PEPD Sarah Leigh Gene: pepd has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.230 PEPD Sarah Leigh Classified gene: PEPD as Green List (high evidence)
Undiagnosed metabolic disorders v1.230 PEPD Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported.
Undiagnosed metabolic disorders v1.230 PEPD Sarah Leigh Gene: pepd has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.229 PEPD Sarah Leigh Added comment: Comment on phenotypes: Prolidase deficiency (Other disorders of peptide metabolism)
Undiagnosed metabolic disorders v1.229 PEPD Sarah Leigh Phenotypes for gene: PEPD were changed from Prolidase deficiency (Other disorders of peptide metabolism); Intellectual disability to Prolidase deficiency 170100
Likely inborn error of metabolism v1.221 PEPD Sarah Leigh Added comment: Comment on phenotypes: Prolidase deficiency (Other disorders of peptide metabolism)
Likely inborn error of metabolism v1.221 PEPD Sarah Leigh Phenotypes for gene: PEPD were changed from Intellectual disability; Prolidase deficiency (Other disorders of peptide metabolism) to Prolidase deficiency 170100
Undiagnosed metabolic disorders v1.228 PEPD Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.228 PDPR Sarah Leigh Classified gene: PDPR as Red List (low evidence)
Undiagnosed metabolic disorders v1.228 PDPR Sarah Leigh Added comment: Comment on list classification: Not associated with a phenotype in OMIM or in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.
Undiagnosed metabolic disorders v1.228 PDPR Sarah Leigh Gene: pdpr has been classified as Red List (Low Evidence).
Likely inborn error of metabolism v1.220 PDPR Sarah Leigh changed review comment from: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.; to: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Not associated with a phenotype in OMIM or in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.
Likely inborn error of metabolism v1.220 PDPR Sarah Leigh Mode of inheritance for gene: PDPR was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown
Likely inborn error of metabolism v1.219 PDPR Sarah Leigh Classified gene: PDPR as Red List (low evidence)
Likely inborn error of metabolism v1.219 PDPR Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported in a case of global developmental delay, typical Joubert syndrome, according to PMID 25558065.
Likely inborn error of metabolism v1.219 PDPR Sarah Leigh Gene: pdpr has been classified as Red List (Low Evidence).
Likely inborn error of metabolism v1.218 PDPR Sarah Leigh Added comment: Comment on phenotypes: Global developmental delay, typical Joubert syndrome, according to PMID 25558065.
Likely inborn error of metabolism v1.218 PDPR Sarah Leigh Phenotypes for gene: PDPR were changed from Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) to Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism)
Likely inborn error of metabolism v1.217 PDPR Sarah Leigh Publications for gene: PDPR were set to 27604308; 25558065
Likely inborn error of metabolism v1.216 PDPR Sarah Leigh Publications for gene: PDPR were set to 27604308; 25558065
Likely inborn error of metabolism v1.215 PCSK9 Sarah Leigh Added comment: Comment on mode of pathogenicity: Gain of function variants are responsible for Hypercholesterolemia, familial, 3 603776, while loss of function variants are responsible for {Low density lipoprotein cholesterol level QTL 1} 603776.
Likely inborn error of metabolism v1.215 PCSK9 Sarah Leigh Mode of pathogenicity for gene: PCSK9 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Undiagnosed metabolic disorders v1.227 PCSK9 Sarah Leigh Added comment: Comment on mode of pathogenicity: Gain of function variants are responsible for Hypercholesterolemia, familial, 3 603776, while loss of function variants are responsible for {Low density lipoprotein cholesterol level QTL 1} 603776.
Undiagnosed metabolic disorders v1.227 PCSK9 Sarah Leigh Mode of pathogenicity for gene: PCSK9 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Likely inborn error of metabolism v1.214 PCSK9 Sarah Leigh Classified gene: PCSK9 as Green List (high evidence)
Likely inborn error of metabolism v1.214 PCSK9 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 gain of function variants reported in unrelated cases of Hypercholesterolemia, familial, 3 603776 and at least 5 loss of function variants have been reported in unrelated cases of {Low density lipoprotein cholesterol level QTL 1} 603776.
Likely inborn error of metabolism v1.214 PCSK9 Sarah Leigh Gene: pcsk9 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.214 PCSK9 Sarah Leigh Phenotypes for gene: PCSK9 were changed from Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 60377 to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 603776
Undiagnosed metabolic disorders v1.226 PCSK9 Sarah Leigh Classified gene: PCSK9 as Green List (high evidence)
Undiagnosed metabolic disorders v1.226 PCSK9 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 gain of function variants reported in unrelated cases of Hypercholesterolemia, familial, 3 603776 and at least 5 loss of function variants have been reported in unrelated cases of {Low density lipoprotein cholesterol level QTL 1} 603776.
Undiagnosed metabolic disorders v1.226 PCSK9 Sarah Leigh Gene: pcsk9 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.213 PCSK9 Sarah Leigh Publications for gene: PCSK9 were set to 27604308; 12730697; 14727179; 15772090; 15654334; 16909389
Likely inborn error of metabolism v1.213 PCSK9 Sarah Leigh Publications for gene: PCSK9 were set to 27604308
Undiagnosed metabolic disorders v1.225 PCSK9 Sarah Leigh Publications for gene: PCSK9 were set to 27604308
Undiagnosed metabolic disorders v1.224 PCSK9 Sarah Leigh Added comment: Comment on phenotypes: (Inherited hypercholesterolaemias)
Undiagnosed metabolic disorders v1.224 PCSK9 Sarah Leigh Phenotypes for gene: PCSK9 were changed from Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 603776
Undiagnosed metabolic disorders v1.223 PCSK9 Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.212 PCSK9 Sarah Leigh Added comment: Comment on phenotypes: (Inherited hypercholesterolaemias)
Likely inborn error of metabolism v1.212 PCSK9 Sarah Leigh Phenotypes for gene: PCSK9 were changed from Familial hypercholesterolaemia; Autosomal dominant hypercholesterolemia-3 (Inherited hypercholesterolaemias) to Hypercholesterolemia, familial, 3 603776; {Low density lipoprotein cholesterol level QTL 1} 60377
Likely inborn error of metabolism v1.211 PCK1 Sarah Leigh Classified gene: PCK1 as Green List (high evidence)
Likely inborn error of metabolism v1.211 PCK1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases.
Likely inborn error of metabolism v1.211 PCK1 Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.210 PCK1 Sarah Leigh Classified gene: PCK1 as Green List (high evidence)
Likely inborn error of metabolism v1.210 PCK1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases.
Likely inborn error of metabolism v1.210 PCK1 Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.210 PCK1 Sarah Leigh Classified gene: PCK1 as Green List (high evidence)
Likely inborn error of metabolism v1.210 PCK1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases.
Likely inborn error of metabolism v1.210 PCK1 Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.223 PCK1 Sarah Leigh Classified gene: PCK1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.223 PCK1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in unrelated cases.
Undiagnosed metabolic disorders v1.223 PCK1 Sarah Leigh Gene: pck1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.209 PCK1 Sarah Leigh Publications for gene: PCK1 were set to 27604308; 24863970; 26971250
Likely inborn error of metabolism v1.208 PCK1 Sarah Leigh Publications for gene: PCK1 were set to 27604308; 24863970; 26971250
Undiagnosed metabolic disorders v1.222 PCK1 Sarah Leigh Publications for gene: PCK1 were set to 27604308
Likely inborn error of metabolism v1.208 PCK1 Sarah Leigh Publications for gene: PCK1 were set to 27604308; 24863970; 26971250
Likely inborn error of metabolism v1.207 PCK1 Sarah Leigh Publications for gene: PCK1 were set to 27604308
Likely inborn error of metabolism v1.207 PCK1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis);Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))
Likely inborn error of metabolism v1.207 PCK1 Sarah Leigh Phenotypes for gene: PCK1 were changed from Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis); ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK)) to ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680
Undiagnosed metabolic disorders v1.221 PCK1 Sarah Leigh Added comment: Comment on phenotypes: Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis);Cytosolic phosphoenolpyruvate carboxykinase (PEPCK))
Undiagnosed metabolic disorders v1.221 PCK1 Sarah Leigh Phenotypes for gene: PCK1 were changed from Phosphoenolpyruvate carboxykinase deficiency (Disorders of gluconeogenesis); ?Phosphoenolpyruvate carboxykinase-1, cytosolic, deficiency; (PCK1 DEFICIENCY, Cytosolic phosphoenolpyruvate carboxykinase (PEPCK)) to ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680
Likely inborn error of metabolism v1.206 PANK2 Sarah Leigh Publications for gene: PANK2 were set to 27604308; 11479594; 12510040; 12058097; 14638969; 16240131
Likely inborn error of metabolism v1.206 PANK2 Sarah Leigh Publications for gene: PANK2 were set to 27604308
Undiagnosed metabolic disorders v1.220 PANK2 Sarah Leigh Publications for gene: PANK2 were set to 27604308
Likely inborn error of metabolism v1.205 PANK2 Sarah Leigh Classified gene: PANK2 as Green List (high evidence)
Likely inborn error of metabolism v1.205 PANK2 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 13 variants reported for Neurodegeneration with brain iron accumulation 234200 and 3 variants in 2 unrelated cases of HARP syndrome 607236.
Likely inborn error of metabolism v1.205 PANK2 Sarah Leigh Gene: pank2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.219 PANK2 Sarah Leigh Added comment: Comment on phenotypes: (NBIA) (Disorder of iron metabolism);Early onset dystonia;Parkinson Disease and Complex Parkinsonism;Posterior segment abnormalities
Undiagnosed metabolic disorders v1.219 PANK2 Sarah Leigh Phenotypes for gene: PANK2 were changed from HARP syndrome 607236; Neurodegeneration with brain iron accumulation 234200Pantothenate kinases deficiency (Other disorders of vitamins and cofactors); Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Early onset dystonia; Parkinson Disease and Complex Parkinsonism; Posterior segment abnormalities to HARP syndrome 607236; Neurodegeneration with brain iron accumulation 234200
Likely inborn error of metabolism v1.205 PANK2 Sarah Leigh Classified gene: PANK2 as Green List (high evidence)
Likely inborn error of metabolism v1.205 PANK2 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 13 variants reported for Neurodegeneration with brain iron accumulation 234200 and 3 variants in 2 unrelated cases of HARP syndrome 607236.
Likely inborn error of metabolism v1.205 PANK2 Sarah Leigh Gene: pank2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.218 PANK2 Sarah Leigh Classified gene: PANK2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.218 PANK2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 13 variants reported for Neurodegeneration with brain iron accumulation 234200 and 3 variants in 2 unrelated cases of HARP syndrome 607236.
Undiagnosed metabolic disorders v1.218 PANK2 Sarah Leigh Gene: pank2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.204 PANK2 Sarah Leigh Added comment: Comment on phenotypes: (Disorder of iron metabolism);Pantothenate kinases deficiency (Other disorders of vitamins and cofactors)
Likely inborn error of metabolism v1.204 PANK2 Sarah Leigh Phenotypes for gene: PANK2 were changed from Neurodegeneration with brain iron accumulation 1, 234200HARP syndrome, 607236; Early onset dystonia; Posterior segment abnormalities; Parkinson Disease and Complex Parkinsonism; Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Pantothenate kinases deficiency (Other disorders of vitamins and cofactors) to HARP syndrome 607236; Neurodegeneration with brain iron accumulation 234200
Undiagnosed metabolic disorders v1.217 PANK2 Sarah Leigh Added comment: Comment on phenotypes: (Disorder of iron metabolism);Early onset dystonia;Parkinson Disease and Complex Parkinsonism;Posterior segment abnormalities
Undiagnosed metabolic disorders v1.217 PANK2 Sarah Leigh Phenotypes for gene: PANK2 were changed from Pantothenate kinases deficiency (Other disorders of vitamins and cofactors); Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Early onset dystonia; Parkinson Disease and Complex Parkinsonism; Posterior segment abnormalities to HARP syndrome 607236; Neurodegeneration with brain iron accumulation 234200Pantothenate kinases deficiency (Other disorders of vitamins and cofactors); Neurodegeneration with brain iron accumulation (NBIA) (Disorder of iron metabolism); Early onset dystonia; Parkinson Disease and Complex Parkinsonism; Posterior segment abnormalities
Undiagnosed metabolic disorders v1.216 PANK2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.216 PANK2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.216 PANK2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.216 PANK2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.216 PANK2 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.216 OPLAH Sarah Leigh Classified gene: OPLAH as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.216 OPLAH Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants have been reported. It is not clear whether the mode of inheritance is biallelic or monoallelic as homozygous and heterozygote cases have been seen. The PMID 21651516 reports two sibs who are homozygous for a terminating variant, the younger brother is 5-oxoprolinase deficiency, however, his clinically unaffected sister just has increased 5-oxoproline excretion.
Undiagnosed metabolic disorders v1.216 OPLAH Sarah Leigh Gene: oplah has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.215 OPLAH Sarah Leigh Publications for gene: OPLAH were set to 27604308
Likely inborn error of metabolism v1.203 OPLAH Sarah Leigh Added comment: Comment on phenotypes: Oxoprolinuria (Disorders of the gamma-glutamyl cycle)
Likely inborn error of metabolism v1.203 OPLAH Sarah Leigh Phenotypes for gene: OPLAH were changed from Oxoprolinuria (Disorders of the gamma-glutamyl cycle); 5-oxoprolinase deficiency, 260005 to 5-oxoprolinase deficiency 260005
Undiagnosed metabolic disorders v1.214 OPLAH Sarah Leigh Added comment: Comment on phenotypes: Oxoprolinuria (Disorders of the gamma-glutamyl cycle)
Undiagnosed metabolic disorders v1.214 OPLAH Sarah Leigh Phenotypes for gene: OPLAH were changed from Oxoprolinuria (Disorders of the gamma-glutamyl cycle); 5-oxoprolinase deficiency, 260005 to 5-oxoprolinase deficiency 260005
Likely inborn error of metabolism v1.202 OPLAH Sarah Leigh Classified gene: OPLAH as Amber List (moderate evidence)
Likely inborn error of metabolism v1.202 OPLAH Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants have been reported. It is not clear whether the mode of inheritance is biallelic or monoallelic as homozygous and heterozygote cases have been seen. The PMID 21651516 reports two sibs who are homozygous for a terminating variant, the younger brother is 5-oxoprolinase deficiency, however, his clinically unaffected sister just has increased 5-oxoproline excretion.
Likely inborn error of metabolism v1.202 OPLAH Sarah Leigh Gene: oplah has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.201 OPLAH Sarah Leigh Publications for gene: OPLAH were set to 27604308
Likely inborn error of metabolism v1.200 OCRL Sarah Leigh Classified gene: OCRL as Green List (high evidence)
Likely inborn error of metabolism v1.200 OCRL Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000.
Likely inborn error of metabolism v1.200 OCRL Sarah Leigh Gene: ocrl has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.200 OCRL Sarah Leigh Classified gene: OCRL as Green List (high evidence)
Likely inborn error of metabolism v1.200 OCRL Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000.
Likely inborn error of metabolism v1.200 OCRL Sarah Leigh Gene: ocrl has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.213 OCRL Sarah Leigh Classified gene: OCRL as Green List (high evidence)
Undiagnosed metabolic disorders v1.213 OCRL Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for both Dent disease 2 300555 and Lowe syndrome 309000. At least 5variants reported in Dent disease 2 300555 and 4 variants in Lowe syndrome 309000.
Undiagnosed metabolic disorders v1.213 OCRL Sarah Leigh Gene: ocrl has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.199 OCRL Sarah Leigh Added comment: Comment on phenotypes: Lowe syndrome (Disorders of amino acid transport);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Intellectual disability;Intellectual_disability;Cataracts
Likely inborn error of metabolism v1.199 OCRL Sarah Leigh Phenotypes for gene: OCRL were changed from Dent disease 2 300555; Lowe syndrome 309000 to Dent disease 2 300555; Lowe syndrome 309000
Likely inborn error of metabolism v1.199 OCRL Sarah Leigh Added comment: Comment on phenotypes: Lowe syndrome (Disorders of amino acid transport);Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Intellectual disability;Intellectual_disability;Cataracts
Likely inborn error of metabolism v1.199 OCRL Sarah Leigh Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Dent disease 2 300555; Lowe syndrome 309000
Undiagnosed metabolic disorders v1.212 OCRL Sarah Leigh Added comment: Comment on phenotypes: Lowe syndrome (Disorders of amino acid transport);Cataracts;Intellectual disability;Intellectual_disability;Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)
Undiagnosed metabolic disorders v1.212 OCRL Sarah Leigh Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Cataracts; Intellectual disability; Intellectual_disability; Renal tract calcification (or Nephrolithiasis/nephrocalcinosis) to Dent disease 2 300555; Lowe syndrome 309000
Likely inborn error of metabolism v1.198 OCRL Sarah Leigh Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts
Likely inborn error of metabolism v1.197 OCRL Sarah Leigh Publications for gene: OCRL were set to 27604308
Undiagnosed metabolic disorders v1.211 OCRL Sarah Leigh Publications for gene: OCRL were set to 27604308
Likely inborn error of metabolism v1.196 OCRL Sarah Leigh Added comment: Comment on phenotypes: Dent disease 2 300555;Lowe syndrome 309000
Likely inborn error of metabolism v1.196 OCRL Sarah Leigh Phenotypes for gene: OCRL were changed from Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts to Lowe syndrome (Disorders of amino acid transport); Renal tract calcification (or Nephrolithiasis/nephrocalcinosis); Intellectual disability; Intellectual_disability; Cataracts
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 OCRL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.210 NDUFB9 Sarah Leigh Classified gene: NDUFB9 as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.210 NDUFB9 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported, together with supportive functional studies.
Undiagnosed metabolic disorders v1.210 NDUFB9 Sarah Leigh Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.209 NDUFB9 Sarah Leigh Added comment: Comment on publications: PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.
Undiagnosed metabolic disorders v1.209 NDUFB9 Sarah Leigh Publications for gene: NDUFB9 were set to 27604308
Likely inborn error of metabolism v1.195 NDUFB9 Sarah Leigh Classified gene: NDUFB9 as Amber List (moderate evidence)
Likely inborn error of metabolism v1.195 NDUFB9 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 1 variant reported, together with supportive functional studies.
Likely inborn error of metabolism v1.195 NDUFB9 Sarah Leigh Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.194 NDUFB9 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.208 NDUFB9 Sarah Leigh Phenotypes for gene: NDUFB9 were changed from Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex I deficiency to ?Mitochondrial complex I deficiency, nuclear type 24 618245
Likely inborn error of metabolism v1.194 NDUFB9 Sarah Leigh Phenotypes for gene: NDUFB9 were changed from ?Mitochondrial complex I deficiency, 252010; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); ?Mitochondrial complex I deficiency; Isolated complex I deficiency to ?Mitochondrial complex I deficiency, nuclear type 24 618245
Likely inborn error of metabolism v1.193 NDUFB9 Sarah Leigh Added comment: Comment on publications: PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.
Likely inborn error of metabolism v1.193 NDUFB9 Sarah Leigh Publications for gene: NDUFB9 were set to PMID: 22200994 Reports one probound heterozygous for a variant (c.140G>T, p.Arg47Leu) within NDUFB9 with parents not available for genetic testing, and in vitro complement studies in patient fibroblasts showed wildtype NDUFB9 did not rescue complex I activity, therefore was deemed not pathogenic. Reports two brothers homozygous for a variant in the gene, with parents who are heterozygous carriers (c.191T>C, p.Leu64Pro). In vitro, fibroblasts from the proband showed low complex I activity, and wildtype NDUFB9 rescued complex I activity.
Likely inborn error of metabolism v1.192 MVK Sarah Leigh Mode of inheritance for gene: MVK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.207 MVK Sarah Leigh Mode of inheritance for gene: MVK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders v1.206 MVK Sarah Leigh changed review comment from: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in Hyper-IgD syndrome 260920, 9 variants reported in Mevalonic aciduria 610377 and 8 variants reported in Porokeratosis 3, multiple types 175900.; to: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Numerous variants reported for each phenotype.
Likely inborn error of metabolism v1.191 MVK Sarah Leigh Publications for gene: MVK were set to 27604308
Undiagnosed metabolic disorders v1.206 MVK Sarah Leigh Publications for gene: MVK were set to 27604308
Likely inborn error of metabolism v1.190 MVK Sarah Leigh Classified gene: MVK as Green List (high evidence)
Likely inborn error of metabolism v1.190 MVK Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype. Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in Hyper-IgD syndrome 260920, 9 variants reported in Mevalonic aciduria 610377 and 8 variants reported in Porokeratosis 3, multiple types 175900.
Likely inborn error of metabolism v1.190 MVK Sarah Leigh Gene: mvk has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.205 MVK Sarah Leigh Classified gene: MVK as Green List (high evidence)
Undiagnosed metabolic disorders v1.205 MVK Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported in Hyper-IgD syndrome 260920, 9 variants reported in Mevalonic aciduria 610377 and 8 variants reported in Porokeratosis 3, multiple types 175900.
Undiagnosed metabolic disorders v1.205 MVK Sarah Leigh Gene: mvk has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.204 MVK Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.189 MVK Sarah Leigh Added comment: Comment on phenotypes: Infantile enterocolitis & monogenic inflammatory bowel disease;Mevalonate kinase deficiency (Disorders of sterol biosynthesis)
Likely inborn error of metabolism v1.189 MVK Sarah Leigh Phenotypes for gene: MVK were changed from Infantile enterocolitis & monogenic inflammatory bowel disease; Mevalonate kinase deficiency (Disorders of sterol biosynthesis) to Hyper-IgD syndrome 260920; Mevalonic aciduria 610377; Porokeratosis 3, multiple types 175900
Undiagnosed metabolic disorders v1.204 MVK Sarah Leigh Added comment: Comment on phenotypes: Mevalonate kinase deficiency (Disorders of sterol biosynthesis);Infantile enterocolitis & monogenic inflammatory bowel disease
Undiagnosed metabolic disorders v1.204 MVK Sarah Leigh Phenotypes for gene: MVK were changed from Mevalonate kinase deficiency (Disorders of sterol biosynthesis); Infantile enterocolitis & monogenic inflammatory bowel disease to Hyper-IgD syndrome 260920; Mevalonic aciduria 610377; Porokeratosis 3, multiple types 175900
Likely inborn error of metabolism v1.188 MTPAP Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Likely inborn error of metabolism v1.188 MTPAP Sarah Leigh Phenotypes for gene: MTPAP were changed from ?Spastic ataxia 4, autosomal recessive 613672; Ataxia, spastic, 4, 613672; ?Spastic ataxia 4, autosomal recessive, 613672; Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only) to ?Spastic ataxia 4, autosomal recessive 613672
Undiagnosed metabolic disorders v1.203 MTPAP Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)
Undiagnosed metabolic disorders v1.203 MTPAP Sarah Leigh Phenotypes for gene: MTPAP were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only); ?Spastic ataxia 4, autosomal recessive, 613672 to ?Spastic ataxia 4, autosomal recessive, 613672
Membranoproliferative glomerulonephritis including C3 glomerulopathy v2.0 Ellen McDonagh promoted panel to version 2.0
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.17 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Undiagnosed metabolic disorders v1.202 MTPAP Sarah Leigh Publications for gene: MTPAP were set to 27604308
Undiagnosed metabolic disorders v1.201 MTPAP Sarah Leigh Classified gene: MTPAP as Green List (high evidence)
Undiagnosed metabolic disorders v1.201 MTPAP Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in unrelated cases, and supportive functional studies.
Undiagnosed metabolic disorders v1.201 MTPAP Sarah Leigh Gene: mtpap has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.200 MTFMT Sarah Leigh Classified gene: MTFMT as Green List (high evidence)
Undiagnosed metabolic disorders v1.200 MTFMT Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 8 variants reported.
Undiagnosed metabolic disorders v1.200 MTFMT Sarah Leigh Gene: mtfmt has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.187 MTFMT Sarah Leigh Publications for gene: MTFMT were set to 21907147; 27564080; 23499752; 24461907
Undiagnosed metabolic disorders v1.199 MTFMT Sarah Leigh Publications for gene: MTFMT were set to 27604308
Undiagnosed metabolic disorders v1.198 MTFMT Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)).
Undiagnosed metabolic disorders v1.198 MTFMT Sarah Leigh Phenotypes for gene: MTFMT were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Inherited white matter disorders to Combined oxidative phosphorylation deficiency 15 614947; Mitochondrial complex I deficiency, nuclear type 27 618248
Likely inborn error of metabolism v1.186 MTFMT Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)).
Likely inborn error of metabolism v1.186 MTFMT Sarah Leigh Phenotypes for gene: MTFMT were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 15, 614947; Inherited white matter disorders; Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Mitochondrial complex I deficiency, nuclear type 27 618248 to Combined oxidative phosphorylation deficiency 15 614947; Mitochondrial complex I deficiency, nuclear type 27 618248
Undiagnosed metabolic disorders v1.197 MTFMT Sarah Leigh Deleted their comment
Atypical haemolytic uraemic syndrome v2.0 Ellen McDonagh promoted panel to version 2.0
Atypical haemolytic uraemic syndrome v1.22 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Undiagnosed metabolic disorders v1.197 MRPL3 Sarah Leigh Classified gene: MRPL3 as Green List (high evidence)
Undiagnosed metabolic disorders v1.197 MRPL3 Sarah Leigh Added comment: Comment on list classification: This gene was rated as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated families (4 sibs + 1 unrelated case) and functional studies. From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Undiagnosed metabolic disorders v1.197 MRPL3 Sarah Leigh Gene: mrpl3 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.196 MRPL3 Sarah Leigh Publications for gene: MRPL3 were set to 27604308
Monogenic hearing loss v2.0 Ellen McDonagh promoted panel to version 2.0
Monogenic hearing loss v1.128 Ellen McDonagh Panel types changed to Rare Disease 100K; GMS Rare Disease Virtual; GMS signed-off
Likely inborn error of metabolism v1.185 MRPL3 Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Likely inborn error of metabolism v1.185 MRPL3 Sarah Leigh Phenotypes for gene: MRPL3 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 9, 614582 to Combined oxidative phosphorylation deficiency 9 614582
Undiagnosed metabolic disorders v1.195 MRPL3 Sarah Leigh Added comment: Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Undiagnosed metabolic disorders v1.195 MRPL3 Sarah Leigh Phenotypes for gene: MRPL3 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 9, 614582 to Combined oxidative phosphorylation deficiency 9, 614582
Undiagnosed metabolic disorders v1.194 MOCS2 Sarah Leigh Classified gene: MOCS2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.194 MOCS2 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in at least 8 unrelated cases, together with supportive functional studies.
Undiagnosed metabolic disorders v1.194 MOCS2 Sarah Leigh Gene: mocs2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.184 MOCS2 Sarah Leigh Classified gene: MOCS2 as Green List (high evidence)
Likely inborn error of metabolism v1.184 MOCS2 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in at least 8 unrelated cases, together with supportive functional studies.
Likely inborn error of metabolism v1.184 MOCS2 Sarah Leigh Gene: mocs2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.183 MOCS2 Sarah Leigh Publications for gene: MOCS2 were set to 27604308
Undiagnosed metabolic disorders v1.193 MOCS2 Sarah Leigh Publications for gene: MOCS2 were set to 27604308
Undiagnosed metabolic disorders v1.192 MOCS2 Sarah Leigh Added comment: Comment on phenotypes: Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism);Intellectual disability
Undiagnosed metabolic disorders v1.192 MOCS2 Sarah Leigh Phenotypes for gene: MOCS2 were changed from Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism); Intellectual disability to Molybdenum cofactor deficiency B 252160
Undiagnosed metabolic disorders v1.191 MOCS2 Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.182 MOCS2 Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism)
Likely inborn error of metabolism v1.182 MOCS2 Sarah Leigh Phenotypes for gene: MOCS2 were changed from Intellectual disability; Mo cofactor deficiency, complementation group B (Disorders of molybdenum cofactor metabolism) to Molybdenum cofactor deficiency B 252160
Undiagnosed metabolic disorders v1.191 MOCS1 Sarah Leigh Classified gene: MOCS1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.191 MOCS1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported unrelated cases.
Undiagnosed metabolic disorders v1.191 MOCS1 Sarah Leigh Gene: mocs1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.181 MOCS1 Sarah Leigh Publications for gene: MOCS1 were set to 27604308
Undiagnosed metabolic disorders v1.190 MOCS1 Sarah Leigh Publications for gene: MOCS1 were set to 27604308
Likely inborn error of metabolism v1.180 MOCS1 Sarah Leigh Classified gene: MOCS1 as Green List (high evidence)
Likely inborn error of metabolism v1.180 MOCS1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported unrelated cases.
Likely inborn error of metabolism v1.180 MOCS1 Sarah Leigh Gene: mocs1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.189 MOCS1 Sarah Leigh Added comment: Comment on phenotypes: Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism);Intellectual disability
Undiagnosed metabolic disorders v1.189 MOCS1 Sarah Leigh Phenotypes for gene: MOCS1 were changed from Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism); Intellectual disability to Molybdenum cofactor deficiency A 252150
Likely inborn error of metabolism v1.179 MOCS1 Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism)
Likely inborn error of metabolism v1.179 MOCS1 Sarah Leigh Phenotypes for gene: MOCS1 were changed from Intellectual disability; Mo cofactor deficiency, complementation group A (Disorders of molybdenum cofactor metabolism) to Molybdenum cofactor deficiency A 252150
Undiagnosed metabolic disorders v1.188 MOCS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.188 MAOA Sarah Leigh Publications for gene: MAOA were set to 27604308
Likely inborn error of metabolism v1.178 MAOA Sarah Leigh Phenotypes for gene: MAOA were changed from Brunner syndrome to Brunner syndrome 300615; {Antisocial behavior} 300615
Likely inborn error of metabolism v1.177 MAOA Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.177 MAOA Sarah Leigh Publications for gene: MAOA were set to 27604308
Likely inborn error of metabolism v1.176 MAOA Sarah Leigh Classified gene: MAOA as Green List (high evidence)
Likely inborn error of metabolism v1.176 MAOA Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases.
Likely inborn error of metabolism v1.176 MAOA Sarah Leigh Gene: maoa has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.176 MAOA Sarah Leigh Classified gene: MAOA as Green List (high evidence)
Likely inborn error of metabolism v1.176 MAOA Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases.
Likely inborn error of metabolism v1.176 MAOA Sarah Leigh Gene: maoa has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.187 MAOA Sarah Leigh Classified gene: MAOA as Green List (high evidence)
Undiagnosed metabolic disorders v1.187 MAOA Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases.
Undiagnosed metabolic disorders v1.187 MAOA Sarah Leigh Gene: maoa has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.186 MAGT1 Sarah Leigh Publications for gene: MAGT1 were set to 27604308
Likely inborn error of metabolism v1.175 MAGT1 Sarah Leigh Classified gene: MAGT1 as Green List (high evidence)
Likely inborn error of metabolism v1.175 MAGT1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 variants reported in unrelated cases, together with mouse knock-out model (PMID 29581357).
Likely inborn error of metabolism v1.175 MAGT1 Sarah Leigh Gene: magt1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.185 MAGT1 Sarah Leigh Classified gene: MAGT1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.185 MAGT1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 3 variants reported in unrelated cases, together with mouse knock-out model (PMID 29581357).
Undiagnosed metabolic disorders v1.185 MAGT1 Sarah Leigh Gene: magt1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.174 MAGT1 Sarah Leigh Publications for gene: MAGT1 were set to 27604308; 27393411; 29581357; 25956530
Likely inborn error of metabolism v1.173 MAGT1 Sarah Leigh Publications for gene: MAGT1 were set to 27604308; 27393411; 29581357
Likely inborn error of metabolism v1.172 MAGT1 Sarah Leigh Publications for gene: MAGT1 were set to 27604308; 27393411
Early onset or syndromic epilepsy v1.254 SLC2A1 Ellen McDonagh edited their review of gene: SLC2A1: Added comment: Added the tag 'treatable' as a ketogenic diet can help ameloriate symptoms (PMID: 29303961).; Changed publications: 29303961
Intellectual disability v2.1015 SOX4 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIM id
Intellectual disability v2.1015 SOX4 Louise Daugherty Phenotypes for gene: SOX4 were changed from Syndromic intellectual disability; Global developmental delay; Intellectual disability; Growth delay; Clinodactyly of the 5th finger; facial dysmorphism to Coffin-Siris syndrome 10, 618506; Syndromic intellectual disability; Global developmental delay; Intellectual disability; Growth delay; Clinodactyly of the 5th finger; facial dysmorphism
Intellectual disability v2.1014 KMT2E Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIM id
Intellectual disability v2.1014 KMT2E Louise Daugherty Phenotypes for gene: KMT2E were changed from Global developmental delay; Intellectual disability; Autism; Seizures; Abnormality of skull size to O'Donnell-Luria-Rodan syndrome, 618512; Global developmental delay; Intellectual disability; Autism; Seizures; Abnormality of skull size
Early onset or syndromic epilepsy v1.254 SLC2A1 Ellen McDonagh Tag treatable tag was added to gene: SLC2A1.
Early onset or syndromic epilepsy v1.254 KMT2E Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIM id
Early onset or syndromic epilepsy v1.254 KMT2E Louise Daugherty Phenotypes for gene: KMT2E were changed from Global developmental delay; Intellectual disability; Autism; Seizures; Abnormality of skull size to O'Donnell-Luria-Rodan syndrome, 618512; Global developmental delay; Intellectual disability; Autism; Seizures; Abnormality of skull size
Holoprosencephaly v1.22 CNOT1 Louise Daugherty Phenotypes for gene: CNOT1 were changed from pancreatic agenesis and holoprosencephaly syndrome to Holoprosencephaly 12, with or without pancreatic agenesis, 618500; pancreatic agenesis and holoprosencephaly syndrome
Intellectual disability v2.1013 CNOT1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIM id
Intellectual disability v2.1013 CNOT1 Louise Daugherty Phenotypes for gene: CNOT1 were changed from global developmental delay to Holoprosencephaly 12, with or without pancreatic agenesis, 618500; global developmental delay
Intellectual disability v2.1012 CACNA1B Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIM id
Intellectual disability v2.1012 CACNA1B Louise Daugherty Phenotypes for gene: CACNA1B were changed from Progressive Epilepsy-Dyskinesia; Seizures; Abnormality of movement; Intellectual disability; Developmental regression; Global developmental delay to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497; Progressive Epilepsy-Dyskinesia; Seizures; Abnormality of movement; Intellectual disability; Developmental regression; Global developmental delay
Undiagnosed metabolic disorders v1.184 MAGT1 Sarah Leigh Added comment: Comment on phenotypes: IAP-CDG (Disorders of protein N-glycosylation)
Undiagnosed metabolic disorders v1.184 MAGT1 Sarah Leigh Phenotypes for gene: MAGT1 were changed from IAP-CDG (Disorders of protein N-glycosylation); Combined B and T cell defect to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853
Likely inborn error of metabolism v1.171 MAGT1 Sarah Leigh Added comment: Comment on phenotypes: IAP-CDG (Disorders of protein N-glycosylation)
Early onset or syndromic epilepsy v1.253 CACNA1B Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIM id
Early onset or syndromic epilepsy v1.253 CACNA1B Louise Daugherty Phenotypes for gene: CACNA1B were changed from Global developmental delay; Developmental regression; Seizures; Intellectual disability; Abnormality of movement; Progressive Epilepsy-Dyskinesia to Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, 618497; Global developmental delay; Developmental regression; Seizures; Intellectual disability; Abnormality of movement; Progressive Epilepsy-Dyskinesia
Likely inborn error of metabolism v1.171 MAGT1 Sarah Leigh Phenotypes for gene: MAGT1 were changed from Combined B and T cell defect; Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853; IAP-CDG (Disorders of protein N-glycosylation) to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853
Undiagnosed metabolic disorders v1.183 MAGT1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.170 LIPC Sarah Leigh Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797 to Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797; {Diabetes mellitus, noninsulin-dependent} 125853
Likely inborn error of metabolism v1.170 LIPC Sarah Leigh Publications for gene: LIPC were set to 27604308; 1671786; 12777476; 22464213; 23219720
Likely inborn error of metabolism v1.169 LIPC Sarah Leigh Publications for gene: LIPC were set to 27604308
Likely inborn error of metabolism v1.169 LIPC Sarah Leigh Classified gene: LIPC as Amber List (moderate evidence)
Likely inborn error of metabolism v1.169 LIPC Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated families with Hepatic lipase deficiency, 614025.
Likely inborn error of metabolism v1.169 LIPC Sarah Leigh Gene: lipc has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.183 LIPC Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.183 LIPC Sarah Leigh Classified gene: LIPC as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.183 LIPC Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated families with Hepatic lipase deficiency, 614025.
Undiagnosed metabolic disorders v1.183 LIPC Sarah Leigh Gene: lipc has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.182 LIPC Sarah Leigh Classified gene: LIPC as Amber List (moderate evidence)
Undiagnosed metabolic disorders v1.182 LIPC Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in two unrelated families with Hepatic lipase deficiency, 614025.
Undiagnosed metabolic disorders v1.182 LIPC Sarah Leigh Gene: lipc has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.53 RASGRP1 Louise Daugherty Added comment: Comment on publications: added further publications to further support gene-disease association
Primary immunodeficiency or monogenic inflammatory bowel disease v1.53 RASGRP1 Louise Daugherty Publications for gene: RASGRP1 were set to 30030704; 29282224
Primary immunodeficiency or monogenic inflammatory bowel disease v1.52 RASGRP1 Louise Daugherty Added comment: Comment on phenotypes: added OMIM MIM id
Primary immunodeficiency or monogenic inflammatory bowel disease v1.52 RASGRP1 Louise Daugherty Phenotypes for gene: RASGRP1 were changed from Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency, to Recurrent pneumonia, herpesvirus infections, EBV associated lymphoma; Diseases of Immune Dysregulation; EBV-induced lymphoma; Immunodeficiency; Immunodeficiency 64, 618534
Undiagnosed metabolic disorders v1.181 LIPC Sarah Leigh Publications for gene: LIPC were set to 27604308; 1671786; 12777476; 22464213; 23219720
Undiagnosed metabolic disorders v1.180 LIPC Sarah Leigh Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797 to Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797; {Diabetes mellitus, noninsulin-dependent} 125853
Limb disorders v1.58 EIF4A3 Eleanor Williams commented on gene: EIF4A3: Associated with Robin sequence with cleft mandible and limb anomalies (#268305) in OMIM and RICHIERI-COSTA-PEREIRA SYNDROME in Gene2Phenotype (confirmed, 5_prime or 3_prime UTR mutation).

PMID: 24360810 - Favaro et al. 2014 - found in Brazilian families with RCPS 17 affected probands were homozygous for the 16-repeat allele in the 5 prime UTR of EIF4A3, and 3 apparently unrelated affected individuals were compound heterozygotes (15 or 16 repeats). All tested parents were heterozygous for the 16-repeat allele, and unaffected siblings either lacked the expanded allele or were heterozygotes. The 15- and 16-repeat allele haplotypes spanning EIF4A3 are consistent with a common origin and corroborate their previous founder effect hypothesis for most Brazilian RCPS-affected individuals. Sequencing of EIF4A3 in five additional Brazilian affected individuals ascertained elsewhererevealed that four of them (, including 2 siblings) were homozygous for the 16-repeat allele. In contrast, the fifth (individual 25) was a compound heterozygote, possessing a 14-repeat allele in trans with a nucleotide change, c.809A>G, p.Asp270Gly. the c.809A>G mutation is embedded in a distinct haplotype, suggesting multiple pathogenic mutational origins in EIF4A3.
EIF4A3 transcript abundance was about 30%–40% lower in affected individuals than in controls in both cell types tested.
Zebrafish morpholinos show underdevelopment of craniofacial cartilage, bone alterations, and clefting of the lower jaw.
Limb disorders v1.58 NCAPG2 Eleanor Williams Classified gene: NCAPG2 as Amber List (moderate evidence)
Limb disorders v1.58 NCAPG2 Eleanor Williams Added comment: Comment on list classification: 2 cases. Zebra fish model does not show limb phenotype.
Limb disorders v1.58 NCAPG2 Eleanor Williams Gene: ncapg2 has been classified as Amber List (Moderate Evidence).
Familial pulmonary fibrosis v1.5 PARN Matthew Edwards reviewed gene: PARN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26116823, 25848748; Phenotypes: Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (OMIM 616371); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Inherited predisposition to GIST v1.0 Ivone Leong promoted panel to version 1.0
Inherited predisposition to GIST v0.22 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Familial melanoma v1.0 Ivone Leong promoted panel to version 1.0
Familial melanoma v0.24 Ivone Leong Panel types changed to GMS Rare Disease; GMS signed-off
Inherited MMR deficiency (Lynch syndrome) v1.0 Ivone Leong promoted panel to version 1.0
Inherited MMR deficiency (Lynch syndrome) v0.12 Ivone Leong Panel name changed from Inherited MMR deficiency (Lynch syndrome), R210 to Inherited MMR deficiency (Lynch syndrome)
List of related panels changed from to R210
Panel types changed to GMS Rare Disease; GMS signed-off
Inherited ovarian cancer (without breast cancer) v2.0 Ivone Leong promoted panel to version 2.0
Inherited ovarian cancer (without breast cancer) v1.10 Ivone Leong Panel types changed to Rare Disease 100K; GMS Rare Disease; GMS signed-off
Primary immunodeficiency or monogenic inflammatory bowel disease v1.51 PTEN Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 28th March 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber- publication evidence supplied by expert; to: Comment on list classification: Changed from Red to Amber. As discussed with the GMS Immunology Specialist Test Group webex call 28th March 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber- publication evidence supplied by expert
Primary immunodeficiency or monogenic inflammatory bowel disease v1.51 USP18 Louise Daugherty changed review comment from: Comment on publications: Added publications PMID: 31272490, PMID:27325888 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019; to: Comment on publications: Added publications PMID: 31272490, PMID:27325888 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. : five PTS patients from two unrelated families. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.51 USP18 Louise Daugherty changed review comment from: Comment on publications: Added publications PMID: 31272490, PMID:27325888 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group; to: Comment on publications: Added publications PMID: 31272490, PMID:27325888 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group as conflicts with the Amber rating agreed in the webex 28th March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.51 USP18 Louise Daugherty Phenotypes for gene: USP18 were changed from TORCH like syndrome; Autoinflammatory Disorders to TORCH like syndrome; Autoinflammatory Disorders; Pseudo-TORCH syndrome 2, 617397
Primary immunodeficiency or monogenic inflammatory bowel disease v1.50 USP18 Louise Daugherty Added comment: Comment on publications: Added publications PMID: 31272490, PMID:27325888 suggested by Tracy Briggs (NWGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Green rating. Flagged for further discussion with the Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.50 USP18 Louise Daugherty Publications for gene: USP18 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.49 PSMB9 Louise Daugherty Phenotypes for gene: PSMB9 were changed from CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome) to Autoinflammation, lipodystrophy, and dermatosis syndrome; CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.48 PSMB9 Louise Daugherty Added comment: Comment on publications: PMID:26524591 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support inclusion of this gene on the panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.48 PSMB9 Louise Daugherty Publications for gene: PSMB9 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.47 PSMA3 Louise Daugherty Phenotypes for gene: PSMA3 were changed from to CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.46 PSMA3 Louise Daugherty Added comment: Comment on publications: PMID:26524591 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support inclusion of this gene on the panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.46 PSMA3 Louise Daugherty Publications for gene: PSMA3 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.45 CTC1 Louise Daugherty Added comment: Comment on publications: PMID: 22267198 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support rating of the gene to be Amber
Primary immunodeficiency or monogenic inflammatory bowel disease v1.45 CTC1 Louise Daugherty Added comment: Comment on publications: PMID: 22267198 suggested by Tracy Briggs (NWGLH) on behalf of The Specialist Test Group to support rating of the gene to be Amber
Primary immunodeficiency or monogenic inflammatory bowel disease v1.45 CTC1 Louise Daugherty Publications for gene: CTC1 were set to 22267198
Primary immunodeficiency or monogenic inflammatory bowel disease v1.45 CTC1 Louise Daugherty Publications for gene: CTC1 were set to 22267198
Primary immunodeficiency or monogenic inflammatory bowel disease v1.44 CTC1 Louise Daugherty Publications for gene: CTC1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PSMB4 Louise Daugherty changed review comment from: added digenic tag - from review comment 'Digenic also reported" from NWGLH (Tracy Briggs); to: added digenic tag - from review comment 'Digenic also reported' from NWGLH (Tracy Briggs)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PSMB9 Louise Daugherty commented on gene: PSMB9: added digenic tag - from review comment 'Digenic also reported' from NWGLH (Tracy Briggs)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PSMB9 Louise Daugherty Tag digenic tag was added to gene: PSMB9.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PSMB4 Louise Daugherty commented on gene: PSMB4: added digenic tag - from review comment 'Digenic also reported" from NWGLH (Tracy Briggs)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PSMB4 Louise Daugherty Tag digenic tag was added to gene: PSMB4.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PTEN Louise Daugherty Classified gene: PTEN as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PTEN Louise Daugherty Added comment: Comment on list classification: Changed from Red to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 28th March 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber- publication evidence supplied by expert
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 PTEN Louise Daugherty Gene: pten has been classified as Amber List (Moderate Evidence).
Cystic renal disease v1.58 Eleanor Williams List of related panels changed from Cystic renal disease - PKD1 to Cystic renal disease - PKD1; R193
Early onset or syndromic epilepsy v1.252 ISCA-46290-Gain Rebecca Foulger Haploinsufficiency Score for ISCA-46290-Gain was changed from to None.
Source NHS GMS was added to Region: ISCA-46290-Gain.
Early onset or syndromic epilepsy v1.251 ISCA-37493-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37493-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37493-Loss.
Early onset or syndromic epilepsy v1.250 ISCA-37478-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37478-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37478-Loss.
Early onset or syndromic epilepsy v1.249 ISCA-37478-Gain Rebecca Foulger Haploinsufficiency Score for ISCA-37478-Gain was changed from to None.
Source NHS GMS was added to Region: ISCA-37478-Gain.
Early onset or syndromic epilepsy v1.248 ISCA-37434-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37434-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37434-Loss.
Early onset or syndromic epilepsy v1.247 ISCA-37432-Gain Rebecca Foulger Haploinsufficiency Score for ISCA-37432-Gain was changed from to None.
Source NHS GMS was added to Region: ISCA-37432-Gain.
Early onset or syndromic epilepsy v1.246 ISCA-37430-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37430-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37430-Loss.
Early onset or syndromic epilepsy v1.245 ISCA-37429-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37429-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37429-Loss.
Early onset or syndromic epilepsy v1.244 ISCA-37423-Gain Rebecca Foulger Haploinsufficiency Score for ISCA-37423-Gain was changed from to None.
Source NHS GMS was added to Region: ISCA-37423-Gain.
Early onset or syndromic epilepsy v1.243 ISCA-37415-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37415-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37415-Loss.
Early onset or syndromic epilepsy v1.242 ISCA-37411-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37411-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37411-Loss.
Early onset or syndromic epilepsy v1.241 ISCA-37404-Loss Rebecca Foulger Triplosensitivity Score for ISCA-37404-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37404-Loss.
Early onset or syndromic epilepsy v1.240 ISCA-46295-Loss Rebecca Foulger Triplosensitivity Score for ISCA-46295-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-46295-Loss.
Early onset or syndromic epilepsy v1.239 ISCA-46295-Loss Rebecca Foulger commented on Region: ISCA-46295-Loss
Early onset or syndromic epilepsy v1.239 ISCA-46290-Gain Rebecca Foulger commented on Region: ISCA-46290-Gain
Early onset or syndromic epilepsy v1.239 ISCA-37493-Loss Rebecca Foulger reviewed Region: ISCA-37493-Loss: Rating: ; Mode of pathogenicity: None; Publications: 28283832; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.239 ISCA-37478-Loss Rebecca Foulger commented on Region: ISCA-37478-Loss
Early onset or syndromic epilepsy v1.239 ISCA-37478-Gain Rebecca Foulger commented on Region: ISCA-37478-Gain
Early onset or syndromic epilepsy v1.239 ISCA-37434-Loss Rebecca Foulger commented on Region: ISCA-37434-Loss
Early onset or syndromic epilepsy v1.239 ISCA-37432-Gain Rebecca Foulger commented on Region: ISCA-37432-Gain
Early onset or syndromic epilepsy v1.239 ISCA-37430-Loss Rebecca Foulger commented on Region: ISCA-37430-Loss
Early onset or syndromic epilepsy v1.239 ISCA-37429-Loss Rebecca Foulger commented on Region: ISCA-37429-Loss
Early onset or syndromic epilepsy v1.239 ISCA-37415-Loss Rebecca Foulger reviewed Region: ISCA-37415-Loss: Rating: ; Mode of pathogenicity: None; Publications: 10573006; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.239 ISCA-37423-Gain Rebecca Foulger reviewed Region: ISCA-37423-Gain: Rating: ; Mode of pathogenicity: None; Publications: 28533195; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.239 ISCA-37411-Loss Rebecca Foulger reviewed Region: ISCA-37411-Loss: Rating: ; Mode of pathogenicity: None; Publications: 19289393; Phenotypes: ; Mode of inheritance: None
Early onset or syndromic epilepsy v1.239 ISCA-37404-Loss Rebecca Foulger commented on Region: ISCA-37404-Loss
Severe early-onset obesity v1.22 ISCA-37486-Loss Ivone Leong reviewed Region: ISCA-37486-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Severe early-onset obesity v1.22 ISCA-37478-Loss Ivone Leong reviewed Region: ISCA-37478-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Severe early-onset obesity v1.22 ISCA-37404-Loss Ivone Leong reviewed Region: ISCA-37404-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None; Current diagnostic: yes
Early onset or syndromic epilepsy v1.239 GATM Rebecca Foulger Phenotypes for gene: GATM were changed from to Cerebral creatine deficiency syndrome 3, 612718
Early onset or syndromic epilepsy v1.238 GATM Rebecca Foulger Mode of inheritance for gene: GATM was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.237 GATM Rebecca Foulger Publications for gene: GATM were set to
Severe early-onset obesity v1.22 KSR2 Ivone Leong reviewed gene: KSR2: Rating: RED; Mode of pathogenicity: ; Publications: 29273807; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 SH2B1 Ivone Leong reviewed gene: SH2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28663568; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 TUB Ivone Leong reviewed gene: TUB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Severe early-onset obesity v1.22 INPP5E Ivone Leong reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: 19668215, 31173343; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 GNAS Ivone Leong reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 28453643, 27991864, 28663568; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 CPE Ivone Leong reviewed gene: CPE: Rating: AMBER; Mode of pathogenicity: ; Publications: 26120850; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 CEP290 Ivone Leong reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: 18327255, 23943788; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 SIM1 Ivone Leong reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 CEP19 Ivone Leong reviewed gene: CEP19: Rating: GREEN; Mode of pathogenicity: ; Publications: 29127258; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 NTRK2 Ivone Leong reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27884935, 29100083; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 WDPCP Ismaa Farooqi reviewed gene: WDPCP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 TUB Ismaa Farooqi reviewed gene: TUB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Severe early-onset obesity v1.22 TRIM32 Ismaa Farooqi reviewed gene: TRIM32: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 PPARG Ismaa Farooqi reviewed gene: PPARG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 NTRK2 Ismaa Farooqi reviewed gene: NTRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 NR0B2 Ismaa Farooqi reviewed gene: NR0B2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 MRAP2 Ismaa Farooqi reviewed gene: MRAP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 MAGEL2 Ismaa Farooqi reviewed gene: MAGEL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 KSR2 Ismaa Farooqi reviewed gene: KSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 INPP5E Ismaa Farooqi reviewed gene: INPP5E: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 GNAS Ismaa Farooqi reviewed gene: GNAS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed); Current diagnostic: yes
Severe early-onset obesity v1.22 CPE Ismaa Farooqi reviewed gene: CPE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 CEP290 Ismaa Farooqi reviewed gene: CEP290: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 CEP19 Ismaa Farooqi reviewed gene: CEP19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 AKR1C2 Ismaa Farooqi reviewed gene: AKR1C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe early-onset obesity v1.22 SIM1 Ismaa Farooqi reviewed gene: SIM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 SH2B1 Ismaa Farooqi reviewed gene: SH2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 VPS13B Ismaa Farooqi reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 TTC8 Ismaa Farooqi reviewed gene: TTC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 SDCCAG8 Ismaa Farooqi reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 POMC Ismaa Farooqi reviewed gene: POMC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 PHF6 Ismaa Farooqi reviewed gene: PHF6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 PCSK1 Ismaa Farooqi reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 MYT1L Ismaa Farooqi reviewed gene: MYT1L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 MKS1 Ismaa Farooqi reviewed gene: MKS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 MKKS Ismaa Farooqi reviewed gene: MKKS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 MC4R Ismaa Farooqi reviewed gene: MC4R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 LEPR Ismaa Farooqi reviewed gene: LEPR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 LEP Ismaa Farooqi reviewed gene: LEP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS9 Ismaa Farooqi reviewed gene: BBS9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS7 Ismaa Farooqi reviewed gene: BBS7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS5 Ismaa Farooqi reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS4 Ismaa Farooqi reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS2 Ismaa Farooqi reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS12 Ismaa Farooqi reviewed gene: BBS12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS10 Ismaa Farooqi reviewed gene: BBS10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 BBS1 Ismaa Farooqi reviewed gene: BBS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 ARL6 Ismaa Farooqi reviewed gene: ARL6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Severe early-onset obesity v1.22 ALMS1 Ismaa Farooqi reviewed gene: ALMS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Intellectual disability v2.1011 PUF60 Rebecca Foulger Phenotypes for gene: PUF60 were changed from Verheij syndrome, 615583; VRJS; Chromosome 8q24.3 deletion syndrome; PUF60 syndrome; Intellectual disability to Syndromic intellectual disability; Verheij syndrome, 615583; VRJS; Chromosome 8q24.3 deletion syndrome; PUF60 syndrome; Intellectual disability
Severe early-onset obesity v1.21 WDPCP Ivone Leong Source Expert list was added to WDPCP.
Mode of inheritance for gene WDPCP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe early-onset obesity v1.21 TUB Ivone Leong Source Expert list was added to TUB.
Source Expert Review Amber was added to TUB.
Mode of inheritance for gene TUB was changed from to BIALLELIC, autosomal or pseudoautosomal
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe early-onset obesity v1.21 TRIM32 Ivone Leong Source Expert list was added to TRIM32.
Severe early-onset obesity v1.21 PPARG Ivone Leong Source Expert list was added to PPARG.
Severe early-onset obesity v1.21 NTRK2 Ivone Leong Source Expert Review Green was added to NTRK2.
Source Expert list was added to NTRK2.
Mode of inheritance for gene NTRK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene NTRK2 were changed from 26727462 association with physical activity score; 26629410 "female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference"; 24950379 GWAS found signals close to this gene associated with birth weight; 16702999 functional studies; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity to 16702999 functional studies; 27884935; 29100083; 24950379 GWAS found signals close to this gene associated with birth weight; 26727462 association with physical activity score; 26629410 female Nkx2.1-Ntrk2-/- mice exhibit an increased body weight and adiposity phenotype more robust than in males, which is accompanied by hyperphagia that precedes the onset of a body weight difference; 15494731 heterozygous variant reported in a 8-year-old male with a complex developmental syndrome and severe obesity
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe early-onset obesity v1.21 NR0B2 Ivone Leong Source Expert list was added to NR0B2.
Severe early-onset obesity v1.21 MRAP2 Ivone Leong Source Expert list was added to MRAP2.
Severe early-onset obesity v1.21 MAGEL2 Ivone Leong Source Expert list was added to MAGEL2.
Severe early-onset obesity v1.21 KSR2 Ivone Leong Source Expert list was added to KSR2.
Publications for gene KSR2 were changed from 24209692 - Study sequenced the KSR2 gene in 1770 individuals of mixed European descent with severe, early-onset obesity (age of onset <10 years) recruited to the Genetics of Obesity Study. Compared to 1536 control individuals from a large UK population-based study ELY. They report an enrichment of loss-of-function variants in KSR2 in cases versus controls, however these did not consistently co-segregate with severe obesity and they state that other genetic and/or environmental factors may modulate the phenotype. Some variants found in severely obese individuals were found in controls, and in publicly available exome data, though the authors argue that some of the controls were overweight/obese and for publicly available databases the phenotypic information are not available in order to rule out obesity in these individuals; 18719666 - This screen identified a novel body-fat phenotypes in KSR2 Knockout mice; 27561547 - ksr2(-/-) mice are normal size at birth but show a marked increase in FGF21 accompanied by reduced body mass, shortened body length, and reduced bone mineral density (BMD) and content (BMC) first evident during postnatal development; 24997067 - Relative to wild-type mice, ksr2(-/-) mice are small prior to weaning with normal glucose tolerance at 6 weeks of age, but demonstrate excess adiposity by 9 weeks and glucose intolerance by 12-14 weeks...The phenotype of C57BL/6 ksr2(-/-) mice, including obesity and obesity-related dysregulation of glucose homeostasis, recapitulates that of humans with KSR2 mutations, demonstrating the applicability of the C57BL/6 ksr2(-/-) mouse model to the study of the pathogenesis of human disease to 29273807
Severe early-onset obesity v1.21 INPP5E Ivone Leong Source Expert list was added to INPP5E.
Source Expert Review Amber was added to INPP5E.
Mode of inheritance for gene INPP5E was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene INPP5E were changed from to 19668215; 31173343
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe early-onset obesity v1.21 GNAS Ivone Leong Source Expert Review Green was added to GNAS.
Source Expert list was added to GNAS.
Mode of inheritance for gene GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene GNAS were changed from to 27991864; 28663568; 28453643
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe early-onset obesity v1.21 CPE Ivone Leong Source Expert Review Amber was added to CPE.
Publications for gene CPE were changed from 15358678; 15870393 to 26120850; 15870393; 15358678
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe early-onset obesity v1.21 CEP290 Ivone Leong Source Expert list was added to CEP290.
Source Expert Review Amber was added to CEP290.
Publications for gene CEP290 were changed from to 23943788; 18327255
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Severe early-onset obesity v1.21 CEP19 Ivone Leong Source Expert Review Green was added to CEP19.
Source Expert list was added to CEP19.
Publications for gene CEP19 were changed from 24268657 to 29127258; 24268657
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe early-onset obesity v1.21 AKR1C2 Ivone Leong Source Expert list was added to AKR1C2.
Severe early-onset obesity v1.21 SIM1 Ivone Leong Source Expert Review Green was added to SIM1.
Added phenotypes Obesity, severe, 601665; obesity; Congenital Obesity for gene: SIM1
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Severe early-onset obesity v1.21 SH2B1 Ivone Leong Publications for gene SH2B1 were changed from 26031769 - we performed a mutation screen for variants in the SH2B1 coding region in 581 obese children and adolescents and 433 healthy, lean individuals. Mutation analysis resulted in the identification of fifteen rare non-synonymous heterozygous variants. Several of these were found both in lean and obese subjects, suggesting that these are neutral polymorphisms. However, six private, heterozygous, non-synonymous variations were present in obese children only. Furthermore, we also identified six missense variants solely in lean individuals; 25955518 - GWAS studies have identified an association with adult BMI with a region with high linkage disequilibrium that includes five genes (SH2B1, APOBR, SULT1A1 and SULT1A2, TUFM). This study showed APOBR variants contribute as much as SH2B1 variants to the association; 26075635; 24971614 - "We describe the identification of 4 novel variants in SH2B1 that are present in individuals with obesity and insulin resistance. Some of the variants we found in severely obese individuals are also found in publicly available exomes...However, because BMI and additional phenotypic information for individuals in these datasets are not available, the precise contribution of these variants to obesity remains to be established...These findings suggest that SH2B1 contains a spectrum of common and rare alleles that contribute to BMI and obesity predisposition with a broad range of penetrance, from low to more highly penetrant rare alleles. One variant, A663V, was identified in 14 severely obese individuals in the GOOS cohort as well as in many publically available exomes. In cells, A663V affected the ability of SH2B1 to enhance cell motility in response to GH. Therefore, it is possible that this variant may contribute to the phenotype of variant carriers. These findings suggest that SH2B1 contains a spectrum of common and rare alleles that contribute to BMI and obesity predisposition with a broad range of penetrance, from low to more highly penetrant rare alleles. One variant, A663V, was identified in 14 severely obese individuals in the GOOS cohort as well as in many publically available exomes. In cells, A663V affected the ability of SH2B1 to enhance cell motility in response to GH. Therefore, it is possible that this variant may contribute to the phenotype of variant carriers."; 23160192 - "We identified 300 patients with severe early-onset obesity from the Genetics of Obesity Study (GOOS) cohort (11) with a disproportionate degree of insulin resistance for their obesity, as defined by the presence of acanthosis nigricans, development of type 2 diabetes in early adolescence, and/or markedly elevated plasma insulin (top decile for age, gender, and BMI). Mutations in the genes causing the known monogenic obesity syndromes had been excluded in these patients, as had deletions at 16p11.2 by multiplex ligation–dependent probe amplification (MLPA)." 5 unrelated probands of mixed European descent with heterozygous mutations in SH2B1 were reported to be absent from 500 control subjects. All mutations were inherited from overweight/obese parents, and carriers were hyperphagic and had reduced final height as adults. to 20808231; 24971614; 28663568; 23160192
Severe early-onset obesity v1.21 VPS13B Ivone Leong Source Expert list was added to VPS13B.
Added phenotypes Cohen syndrome, 216550 for gene: VPS13B
Severe early-onset obesity v1.21 TTC8 Ivone Leong Source Expert list was added to TTC8.
Added phenotypes Bardet-Biedl syndrome 8, 615985 for gene: TTC8
Severe early-onset obesity v1.21 SDCCAG8 Ivone Leong Source Expert list was added to SDCCAG8.
Added phenotypes Bardet-Biedl syndrome 16, 615993 for gene: SDCCAG8
Severe early-onset obesity v1.21 POMC Ivone Leong Source Expert list was added to POMC.
Added phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734; {Obesity, early-onset, susceptibility to}, 601665 for gene: POMC
Severe early-onset obesity v1.21 PHF6 Ivone Leong Source Expert list was added to PHF6.
Added phenotypes Borjeson-Forssman-Lehmann syndrome, 301900 for gene: PHF6
Severe early-onset obesity v1.21 PCSK1 Ivone Leong Source Expert list was added to PCSK1.
Added phenotypes Obesity with impaired prohormone processing, 600955; {Obesity, susceptibility to, BMIQ12}, 612362 for gene: PCSK1
Severe early-onset obesity v1.21 MYT1L Ivone Leong Source Expert list was added to MYT1L.
Added phenotypes Mental retardation, autosomal dominant 39, 616521 for gene: MYT1L
Severe early-onset obesity v1.21 MKS1 Ivone Leong Source Expert list was added to MKS1.
Added phenotypes Bardet-Biedl syndrome 13, 615990 for gene: MKS1
Severe early-onset obesity v1.21 MKKS Ivone Leong Source Expert list was added to MKKS.
Added phenotypes Bardet-Biedl syndrome 6, 605231 for gene: MKKS
Severe early-onset obesity v1.21 MC4R Ivone Leong Source Expert list was added to MC4R.
Added phenotypes Obesity (BMIQ20), 618406; {Obesity, resistence to (BMIQ20)}, 618306 for gene: MC4R
Severe early-onset obesity v1.21 LEPR Ivone Leong Source Expert list was added to LEPR.
Added phenotypes Obesity, morbid, due to leptin receptor deficiency, 614963 for gene: LEPR
Severe early-onset obesity v1.21 LEP Ivone Leong Source Expert list was added to LEP.
Added phenotypes Obesity, morbid, due to leptin deficiency, 614962 for gene: LEP
Severe early-onset obesity v1.21 BBS9 Ivone Leong Source Expert list was added to BBS9.
Added phenotypes Bardet-Biedl syndrome 9, 615986 for gene: BBS9
Severe early-onset obesity v1.21 BBS7 Ivone Leong Source Expert list was added to BBS7.
Added phenotypes Bardet-Biedl syndrome 7, 615984 for gene: BBS7
Severe early-onset obesity v1.21 BBS5 Ivone Leong Source Expert list was added to BBS5.
Added phenotypes Bardet-Biedl syndrome 5, 615983 for gene: BBS5
Severe early-onset obesity v1.21 BBS4 Ivone Leong Source Expert list was added to BBS4.
Added phenotypes Bardet-Biedl syndrome 4, 615982 for gene: BBS4
Severe early-onset obesity v1.21 BBS2 Ivone Leong Source Expert list was added to BBS2.
Added phenotypes Bardet-Biedl syndrome 2, 615981 for gene: BBS2
Severe early-onset obesity v1.21 BBS12 Ivone Leong Source Expert list was added to BBS12.
Added phenotypes Bardet-Biedl syndrome 12, 615989 for gene: BBS12
Severe early-onset obesity v1.21 BBS10 Ivone Leong Source Expert list was added to BBS10.
Added phenotypes Bardet-Biedl syndrome 10, 615987 for gene: BBS10
Severe early-onset obesity v1.21 BBS1 Ivone Leong Source Expert list was added to BBS1.
Added phenotypes Bardet-Biedl syndrome 1, 209900 for gene: BBS1
Severe early-onset obesity v1.21 ARL6 Ivone Leong Source Expert list was added to ARL6.
Added phenotypes Bardet-Biedl syndrome 3, 600151 for gene: ARL6
Severe early-onset obesity v1.21 ALMS1 Ivone Leong Source Expert list was added to ALMS1.
Added phenotypes Alstrom syndrome, 203800 for gene: ALMS1
Undiagnosed metabolic disorders v1.179 LIPC Sarah Leigh Publications for gene: LIPC were set to 27604308
Undiagnosed metabolic disorders v1.178 LIPC Sarah Leigh Phenotypes for gene: LIPC were changed from Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797; {Diabetes mellitus, noninsulin-dependent} 125853 to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797
Likely inborn error of metabolism v1.168 LIPC Sarah Leigh Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency (Inherited mixed hyperlipidaemias); Hepatic lipase deficiency, 614025; [High density lipoprotein cholesterol level QTL 12] 612797 to {Diabetes mellitus, noninsulin-dependent} 125853; Hepatic lipase deficiency 614025; [High density lipoprotein cholesterol level QTL 12] 612797
Likely inborn error of metabolism v1.167 LDLRAP1 Sarah Leigh Classified gene: LDLRAP1 as Green List (high evidence)
Likely inborn error of metabolism v1.167 LDLRAP1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported.
Likely inborn error of metabolism v1.167 LDLRAP1 Sarah Leigh Gene: ldlrap1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.177 LDLRAP1 Sarah Leigh Classified gene: LDLRAP1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.177 LDLRAP1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 11 variants reported.
Undiagnosed metabolic disorders v1.177 LDLRAP1 Sarah Leigh Gene: ldlrap1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.166 LDLRAP1 Sarah Leigh Publications for gene: LDLRAP1 were set to 27604308
Undiagnosed metabolic disorders v1.176 LDLRAP1 Sarah Leigh Publications for gene: LDLRAP1 were set to 27604308
Severe early-onset obesity v1.20 ISCA-37404-Loss Ivone Leong Triplosensitivity Score for ISCA-37404-Loss was changed from to None.
Source Expert list was added to Region: ISCA-37404-Loss.
Severe early-onset obesity v1.19 ISCA-37486-Loss Ivone Leong Triplosensitivity Score for ISCA-37486-Loss was changed from to None.
Source Expert list was added to Region: ISCA-37486-Loss.
Severe early-onset obesity v1.18 ISCA-37478-Loss Ivone Leong Triplosensitivity Score for ISCA-37478-Loss was changed from to None.
Source Expert list was added to Region: ISCA-37478-Loss.
Likely inborn error of metabolism v1.165 LDLRAP1 Sarah Leigh Added comment: Comment on phenotypes: Familial hypercholesterolaemia;Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias)
Likely inborn error of metabolism v1.165 LDLRAP1 Sarah Leigh Phenotypes for gene: LDLRAP1 were changed from Familial hypercholesterolaemia; Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias) to Hypercholesterolemia, familial, 4 603813
Undiagnosed metabolic disorders v1.175 LDLRAP1 Sarah Leigh Added comment: Comment on phenotypes: Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias);Familial hypercholesterolaemia
Undiagnosed metabolic disorders v1.175 LDLRAP1 Sarah Leigh Phenotypes for gene: LDLRAP1 were changed from Autosomal recessive hypercholesterolemia (Inherited hypercholesterolaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 4 603813
Intellectual disability v2.1010 COLEC10 Rebecca Foulger commented on gene: COLEC10
Likely inborn error of metabolism v1.164 LDLR Sarah Leigh Publications for gene: LDLR were set to 27604308; 27821657
Undiagnosed metabolic disorders v1.174 LDLR Sarah Leigh Publications for gene: LDLR were set to 27604308; 27821657
Intellectual disability v2.1010 COLEC10 Rebecca Foulger Phenotypes for gene: COLEC10 were changed from to 3MC syndrome 3, 248340
Intellectual disability v2.1009 COLEC10 Rebecca Foulger Publications for gene: COLEC10 were set to
Undiagnosed metabolic disorders v1.173 LDLR Sarah Leigh Classified gene: LDLR as Green List (high evidence)
Undiagnosed metabolic disorders v1.173 LDLR Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Over 2000 variants reported.
Undiagnosed metabolic disorders v1.173 LDLR Sarah Leigh Gene: ldlr has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.172 LDLR Sarah Leigh Publications for gene: LDLR were set to 27604308
Likely inborn error of metabolism v1.163 LDLR Sarah Leigh Publications for gene: LDLR were set to 27604308
Primary immunodeficiency or monogenic inflammatory bowel disease v1.42 PSMB4 Louise Daugherty Deleted their comment
Likely inborn error of metabolism v1.162 LDLR Sarah Leigh Classified gene: LDLR as Green List (high evidence)
Likely inborn error of metabolism v1.162 LDLR Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. Over 2000 variants reported.
Likely inborn error of metabolism v1.162 LDLR Sarah Leigh Gene: ldlr has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.161 LDLR Sarah Leigh Added comment: Comment on phenotypes: Familial hypercholesterolaemia;Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias)
Likely inborn error of metabolism v1.161 LDLR Sarah Leigh Phenotypes for gene: LDLR were changed from Familial hypercholesterolaemia; Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias) to Hypercholesterolemia, familial, 1 143890; LDL cholesterol level QTL2 143890
Undiagnosed metabolic disorders v1.171 LDLR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.171 LDLR Sarah Leigh Added comment: Comment on phenotypes: Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias);Familial hypercholesterolaemia
Undiagnosed metabolic disorders v1.171 LDLR Sarah Leigh Phenotypes for gene: LDLR were changed from Disorder of low density lipoprotein receptor (Inherited hypercholesterolaemias); Familial hypercholesterolaemia to Hypercholesterolemia, familial, 1 143890; LDL cholesterol level QTL2 143890
Intellectual disability v2.1008 FRMPD4 Rebecca Foulger Classified gene: FRMPD4 as Green List (high evidence)
Intellectual disability v2.1008 FRMPD4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green on advice of Genomics England clinical team: four families with a relevant phenotype meets the criteria for a Green rating.
Intellectual disability v2.1008 FRMPD4 Rebecca Foulger Gene: frmpd4 has been classified as Green List (High Evidence).
Intellectual disability v2.1007 FRMPD4 Rebecca Foulger Added comment: Comment on mode of inheritance: MOI set to X-linked dominant on advice of Genomics England clinical team, in view of the single reported female heterozygote with a relevant phenotype.
Intellectual disability v2.1007 FRMPD4 Rebecca Foulger Mode of inheritance for gene: FRMPD4 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Undiagnosed metabolic disorders v1.170 LBR Sarah Leigh Publications for gene: LBR were set to 27604308
Likely inborn error of metabolism v1.160 LBR Sarah Leigh Classified gene: LBR as Green List (high evidence)
Likely inborn error of metabolism v1.160 LBR Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Greenberg skeletal dysplasia 215140. At least 15 variants have been reported, in 5 unrelated cases of Pelger-Huet anomaly 169400, 3 unrelated cases of Pelger-Huet anomaly with mild skeletal anomalies 618019, 5 unrelated cases of Greenberg skeletal dysplasia 215140 and in a single case of ?Reynolds syndrome 613471.
Likely inborn error of metabolism v1.160 LBR Sarah Leigh Gene: lbr has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.169 LBR Sarah Leigh Classified gene: LBR as Green List (high evidence)
Undiagnosed metabolic disorders v1.169 LBR Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for Greenberg skeletal dysplasia 215140. At least 15 variants have been reported, in 5 unrelated cases of Pelger-Huet anomaly 169400, 3 unrelated cases of Pelger-Huet anomaly with mild skeletal anomalies 618019, 5 unrelated cases of Greenberg skeletal dysplasia 215140 and in a single case of ?Reynolds syndrome 613471.
Undiagnosed metabolic disorders v1.169 LBR Sarah Leigh Gene: lbr has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.168 LBR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.168 LBR Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.168 LBR Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.159 LBR Sarah Leigh Publications for gene: LBR were set to 27604308
Intellectual disability v2.1006 GRIA2 Rebecca Foulger commented on gene: GRIA2
Limb disorders v1.57 LBR Eleanor Williams Added comment: Comment on mode of inheritance: Appears to be Biallelic in Greenberg dysplasia and in Pelger-Huet anomaly with skeletal anomalies. (Pelger-Huet anomaly without skeletal involvement can be monoallelic)
Limb disorders v1.57 LBR Eleanor Williams Mode of inheritance for gene: LBR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal ciliopathies v0.13 LBR Eleanor Williams Added comment: Comment on mode of inheritance: Appears to be Biallelic in Greenberg dysplasia and in Pelger-Huet anomaly with skeletal anomalies. (Pelger-Huet anomaly without skeletal involvement can be monoallelic)
Skeletal ciliopathies v0.13 LBR Eleanor Williams Mode of inheritance for gene: LBR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Skeletal dysplasia v1.193 LBR Eleanor Williams Added comment: Comment on mode of inheritance: Appears to be Biallelic in Greenberg dysplasia and in Pelger-Huet anomaly with skeletal anomalies. (Pelger-Huet anomaly without skeletal involvement can be monoallelic)
Skeletal dysplasia v1.193 LBR Eleanor Williams Mode of inheritance for gene: LBR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.1006 POLR2A Rebecca Foulger Classified gene: POLR2A as Green List (high evidence)
Intellectual disability v2.1006 POLR2A Rebecca Foulger Gene: polr2a has been classified as Green List (High Evidence).
Intellectual disability v2.1005 POLR2A Rebecca Foulger Phenotypes for gene: POLR2A were changed from Generalized hypotonia; Global developmental delay; Feeding difficulties to Global developmental delay; Generalized hypotonia; Feeding difficulties
Intellectual disability v2.1004 POLR2A Rebecca Foulger commented on gene: POLR2A
Intellectual disability v2.1004 AFF3 Rebecca Foulger changed review comment from: As noted by Konstantinos Varvagiannis, Voisin et al., 2019 (not yet in PubMed) describe de novo missense variants in the degron of AFF3 (a region required for its degradation) in 10 unrelated individuals with symptoms including ID. 4 different missense variants were identified (p.A258S, p.A258T, p.A258V and p.V260G). Although there are sufficient cases with a relevant phenotype, I have rated as Amber pending publication of the 2019 article: as OMIM note in their correspondance on AFF3, information changes from the initial bioRxiv upload to peer-reviewed publication. Therefore updated rating of AFF3 from Red to Amber, added 'watchlist' tag (in addition to missense tag), and will re-curate when the paper is published.; to: As noted by Konstantinos Varvagiannis, Voisin et al., 2019 (not yet in PubMed) describe de novo missense variants in the degron of AFF3 (a region required for its degradation) in 10 unrelated individuals with symptoms including ID. 4 different missense variants were identified (p.A258S, p.A258T, p.A258V and p.V260G). Although there are sufficient cases with a relevant phenotype (plus the individual reported in PMID:18616733), I have rated as Amber pending publication of the Voisin 2019 article: as OMIM note in their correspondance on AFF3, information changes from the initial bioRxiv upload to peer-reviewed publication. Therefore updated rating of AFF3 from Red to Amber, added 'watchlist' tag and 'missense' tag, and will re-curate when the paper is published.
Intellectual disability v2.1004 AFF3 Rebecca Foulger Publications for gene: AFF3 were set to
Intellectual disability v2.1003 AFF3 Rebecca Foulger Phenotypes for gene: AFF3 were changed from to Intellectual disability; Seizures
Intellectual disability v2.1002 AFF3 Rebecca Foulger Mode of inheritance for gene: AFF3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.1001 AFF3 Rebecca Foulger Mode of pathogenicity for gene: AFF3 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Undiagnosed metabolic disorders v1.168 LBR Sarah Leigh Added comment: Comment on phenotypes: Greenberg skeletal dysplasia (Disorders of sterol biosynthesis);Fetal hydrops;Unexplained skeletal dysplasia
Undiagnosed metabolic disorders v1.168 LBR Sarah Leigh Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia (Disorders of sterol biosynthesis); Fetal hydrops; Unexplained skeletal dysplasia to ?Reynolds syndrome 613471; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400; Pelger-Huet anomaly with mild skeletal anomalies 618019
Likely inborn error of metabolism v1.158 LBR Sarah Leigh Added comment: Comment on phenotypes: Greenberg skeletal dysplasia (Disorders of sterol biosynthesis);Unexplained skeletal dysplasia;Fetal hydrops
Likely inborn error of metabolism v1.158 LBR Sarah Leigh Phenotypes for gene: LBR were changed from Greenberg skeletal dysplasia (Disorders of sterol biosynthesis); Unexplained skeletal dysplasia; Fetal hydrops to ?Reynolds syndrome 613471; Greenberg skeletal dysplasia 215140; Pelger-Huet anomaly 169400; Pelger-Huet anomaly with mild skeletal anomalies 618019
Intellectual disability v2.1001 AFF3 Rebecca Foulger Classified gene: AFF3 as Amber List (moderate evidence)
Intellectual disability v2.1001 AFF3 Rebecca Foulger Gene: aff3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.1000 AFF3 Rebecca Foulger Tag watchlist tag was added to gene: AFF3.
Intellectual disability v2.1000 AFF3 Rebecca Foulger Tag missense tag was added to gene: AFF3.
Intellectual disability v2.1000 AFF3 Rebecca Foulger commented on gene: AFF3
Undiagnosed metabolic disorders v1.167 ISCU Sarah Leigh Classified gene: ISCU as Green List (high evidence)
Undiagnosed metabolic disorders v1.167 ISCU Sarah Leigh Added comment: 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.
Undiagnosed metabolic disorders v1.167 ISCU Sarah Leigh Gene: iscu has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.157 ISCU Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: ISCU.
Undiagnosed metabolic disorders v1.166 ISCU Sarah Leigh Tag non-coding-known-pathogenic tag was added to gene: ISCU.
Likely inborn error of metabolism v1.157 ISCU Sarah Leigh Publications for gene: ISCU were set to 18304497; 29079705; 18296749; 19567699; 20206689
Intellectual disability v2.1000 WDR37 Rebecca Foulger commented on gene: WDR37: Added missense tag: only missense variants reported so far (PMID:31327510 and PMID:31327508).
Undiagnosed metabolic disorders v1.166 ISCU Sarah Leigh Publications for gene: ISCU were set to 27604308
Undiagnosed metabolic disorders v1.165 ISCU Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.156 ISCU Sarah Leigh commented on gene: ISCU: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Likely inborn error of metabolism v1.156 HSD17B10 Sarah Leigh Classified gene: HSD17B10 as Green List (high evidence)
Likely inborn error of metabolism v1.156 HSD17B10 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for 2-methyl-3-hydroxybutyrylL-coA dehydrogenase deficiency and for mental retardation syndromic X-linked type 10 . At least 8 variants reported.
Likely inborn error of metabolism v1.156 HSD17B10 Sarah Leigh Gene: hsd17b10 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.165 HSD17B10 Sarah Leigh Classified gene: HSD17B10 as Green List (high evidence)
Undiagnosed metabolic disorders v1.165 HSD17B10 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene for 2-methyl-3-hydroxybutyrylL-coA dehydrogenase deficiency and for mental retardation syndromic X-linked type 10 . At least 8 variants reported.
Undiagnosed metabolic disorders v1.165 HSD17B10 Sarah Leigh Gene: hsd17b10 has been classified as Green List (High Evidence).
Intellectual disability v2.1000 WDR37 Rebecca Foulger Classified gene: WDR37 as Green List (high evidence)
Intellectual disability v2.1000 WDR37 Rebecca Foulger Gene: wdr37 has been classified as Green List (High Evidence).
Intellectual disability v2.1000 WDR37 Rebecca Foulger Mode of pathogenicity for gene: WDR37 was changed from None to Other
Intellectual disability v2.999 WDR37 Rebecca Foulger commented on gene: WDR37: WDR37 was added to the ID panel and rated Green by Konstantinos Varvagiannis. Although WDR37 is not yet associated with a disorder in OMIM or Gene2Phenotype, there are sufficient unrelated cases in two recent papers (PMID:31327510 and PMID:31327508) with a severe ID/DD phenotype for inclusion on the panel. Plus it was agreed at the Webex call on Thurs 8th August with members of the GMS Neurology Specialist Test Group that WDR37 should be rated Green on the epilepsy panel (402). Therefore updated rating from Grey to Green.
Likely inborn error of metabolism v1.155 HSD17B10 Sarah Leigh Publications for gene: HSD17B10 were set to 19706438; 22132097; 12696021; 26950678
Undiagnosed metabolic disorders v1.164 HSD17B10 Sarah Leigh Publications for gene: HSD17B10 were set to 27604308
Likely inborn error of metabolism v1.154 HSD17B10 Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias);Intellectual_disability;HSD10 mitochondrial disease 300438
Likely inborn error of metabolism v1.154 HSD17B10 Sarah Leigh Phenotypes for gene: HSD17B10 were changed from Intellectual disability; 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual_disability; HSD10 mitochondrial disease 300438 to HSD10 mitochondrial disease 300438
Undiagnosed metabolic disorders v1.163 HSD17B10 Sarah Leigh Added comment: Comment on phenotypes: 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias);Intellectual disability;Intellectual_disability
Undiagnosed metabolic disorders v1.163 HSD17B10 Sarah Leigh Phenotypes for gene: HSD17B10 were changed from 2-Methyl-3-hydroxybutyric aciduria, HSD10 disease (Organic acidurias); Intellectual disability; Intellectual_disability to HSD10 mitochondrial disease 300438
Undiagnosed metabolic disorders v1.162 HSD17B10 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.162 HSD17B10 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.162 HSD17B10 Sarah Leigh Deleted their comment
Intellectual disability v2.999 WDR37 Rebecca Foulger Tag missense tag was added to gene: WDR37.
Intellectual disability v2.999 WDR37 Rebecca Foulger commented on gene: WDR37
Likely inborn error of metabolism v1.153 HPS1 Sarah Leigh Added comment: Comment on phenotypes: Infantile enterocolitis & monogenic inflammatory bowel disease;Hermansky-Pudlak Syndrome (Other lysosomal disorders);Inherited bleeding disorders
Likely inborn error of metabolism v1.153 HPS1 Sarah Leigh Phenotypes for gene: HPS1 were changed from Infantile enterocolitis & monogenic inflammatory bowel disease; Hermansky-Pudlak Syndrome (Other lysosomal disorders); Inherited bleeding disorders to Hermansky-Pudlak syndrome 1 203300
Undiagnosed metabolic disorders v1.162 HPS1 Sarah Leigh Publications for gene: HPS1 were set to 27604308
Likely inborn error of metabolism v1.152 HPS1 Sarah Leigh Publications for gene: HPS1 were set to 27604308
Likely inborn error of metabolism v1.151 HPS1 Sarah Leigh Classified gene: HPS1 as Green List (high evidence)
Likely inborn error of metabolism v1.151 HPS1 Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 5 unrelated cases.
Likely inborn error of metabolism v1.151 HPS1 Sarah Leigh Gene: hps1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.161 HPS1 Sarah Leigh Classified gene: HPS1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.161 HPS1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in at least 5 unrelated cases.
Undiagnosed metabolic disorders v1.161 HPS1 Sarah Leigh Gene: hps1 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.160 HPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.160 HPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.160 HPS1 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.160 HPS1 Sarah Leigh Added comment: Comment on phenotypes: Hermansky-Pudlak Syndrome (Other lysosomal disorders);Infantile enterocolitis & monogenic inflammatory bowel disease;Inherited bleeding disorders
Undiagnosed metabolic disorders v1.160 HPS1 Sarah Leigh Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak Syndrome (Other lysosomal disorders); Infantile enterocolitis & monogenic inflammatory bowel disease; Inherited bleeding disorders to Hermansky-Pudlak syndrome 1 203300
Likely inborn error of metabolism v1.150 HPD Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126; 30984715; 17560158
Likely inborn error of metabolism v1.150 HPD Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126; 30984715; 17560158
Likely inborn error of metabolism v1.149 HPD Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126:30984715; 17560158
Undiagnosed metabolic disorders v1.159 HPD Sarah Leigh Publications for gene: HPD were set to 27604308; 10942115; 11073718; 26226126:30984715; 17560158
Likely inborn error of metabolism v1.149 HPD Sarah Leigh Classified gene: HPD as Green List (high evidence)
Likely inborn error of metabolism v1.149 HPD Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for both phenotypes. At least 4 variants reported in unrelated cases of Tyrosinemia, type III 276710 and 4 variants in 6 unrelated cases of Hawkinsinuria 140350 (at least 2 of these cases were compound heterozygotes).
Likely inborn error of metabolism v1.149 HPD Sarah Leigh Gene: hpd has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.158 HPD Sarah Leigh Classified gene: HPD as Green List (high evidence)
Undiagnosed metabolic disorders v1.158 HPD Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for both phenotypes. At least 4 variants reported in unrelated cases of Tyrosinemia, type III 276710 and 4 variants in 6 unrelated cases of Hawkinsinuria 140350 (at least 2 of these cases were compound heterozygotes).
Undiagnosed metabolic disorders v1.158 HPD Sarah Leigh Gene: hpd has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.148 HPD Sarah Leigh Publications for gene: HPD were set to 27604308
Undiagnosed metabolic disorders v1.157 HPD Sarah Leigh Publications for gene: HPD were set to 27604308
Likely inborn error of metabolism v1.147 HPD Sarah Leigh Deleted their comment
Proteinuric renal disease v1.222 Eleanor Williams List of related panels changed from to R195
Undiagnosed metabolic disorders v1.156 HPD Sarah Leigh Added comment: Comment on phenotypes: 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism);Intellectual disability
Undiagnosed metabolic disorders v1.156 HPD Sarah Leigh Phenotypes for gene: HPD were changed from 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism); Intellectual disability to Hawkinsinuria 140350; Tyrosinemia, type III 276710
Likely inborn error of metabolism v1.147 HPD Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism)
Likely inborn error of metabolism v1.147 HPD Sarah Leigh Phenotypes for gene: HPD were changed from Hawkinsinuria 140350; Tyrosinemia, type III 276710 to Hawkinsinuria 140350; Tyrosinemia, type III 276710
Likely inborn error of metabolism v1.147 HPD Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism)
Likely inborn error of metabolism v1.147 HPD Sarah Leigh Phenotypes for gene: HPD were changed from Intellectual disability; 4-hydroxyphenylpyruvate dioxygenase deficiency (Disorders of phenylalanine or tyrosine metabolism) to Hawkinsinuria 140350; Tyrosinemia, type III 276710
Undiagnosed metabolic disorders v1.155 HPD Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.146 HADH Sarah Leigh Classified gene: HADH as Green List (high evidence)
Likely inborn error of metabolism v1.146 HADH Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants reported in unrelated cases of Hyperinsulinemic hypoglycemia, familial, 4 609975.
Likely inborn error of metabolism v1.146 HADH Sarah Leigh Gene: hadh has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.155 HADH Sarah Leigh Classified gene: HADH as Green List (high evidence)
Undiagnosed metabolic disorders v1.155 HADH Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. Numerous variants reported in unrelated cases of Hyperinsulinemic hypoglycemia, familial, 4 609975.
Undiagnosed metabolic disorders v1.155 HADH Sarah Leigh Gene: hadh has been classified as Green List (High Evidence).
Tubulointerstitial kidney disease v0.15 Eleanor Williams List of related panels changed from to R202
Likely inborn error of metabolism v1.145 HADH Sarah Leigh Publications for gene: HADH were set to 27604308
Undiagnosed metabolic disorders v1.154 HADH Sarah Leigh Publications for gene: HADH were set to 27604308
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.16 Eleanor Williams List of related panels changed from PMG; MPGN; Primary Membranoproliferative Glomerulonephritis to PMG; MPGN; Primary Membranoproliferative Glomerulonephritis; R197
Early onset or syndromic epilepsy v1.236 SETD5 Rebecca Foulger changed review comment from: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. Although four reviewers agreed it should be on EE panel, there is limited evidence of a seizure phenotype. PMID:26482601: (Kobayashi et al., 2016) examined 11 patients with early-onset epileptic encephalopathy, and SETD5 variants were amongst the findings. Therefore awaited clinical input on whether SETD5 should be demoted on this panel.; to: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. In summary: although four reviewers agreed it should be on EE panel, there is limited evidence of a seizure phenotype. PMID:26482601: (Kobayashi et al., 2016) examined 11 patients with early-onset epileptic encephalopathy, and SETD5 variants were amongst the findings. Therefore consider demoting SETD5.
Early onset or syndromic epilepsy v1.236 LYST Rebecca Foulger changed review comment from: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. Although the mouse model displays seizures (PMID:16518687), there is limited evidence of patients with seizures (no mention of seizures in PMID:9215679, and one 1990 report of Chédiak-Higashi syndrome with seizures from PMID:10450360). Therefore awaiting clinical opinion on whether LYST should be demoted on this panel.; to: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. In summary: although the mouse model displays seizures (PMID:16518687), there is limited evidence of patients with seizures (no mention of seizures in PMID:9215679, and one 1990 report of Chédiak-Higashi syndrome with seizures from PMID:10450360). Therefore consider demoting LYST.
Early onset or syndromic epilepsy v1.236 KIF1BP Rebecca Foulger changed review comment from: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. Although the association with GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME is strong, there is little direct evidence for seizures (PMID:28277559 identifies one case). Therefore awaiting clinical opinion on whether KIF1BP should be demoted.; to: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. In summary: although the association with GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME is strong, there is little direct evidence for seizures (PMID:28277559 identifies one case). Therefore consider demoting KIF1BP.
Early onset or syndromic epilepsy v1.236 AKT1 Rebecca Foulger Marked gene: AKT1 as ready
Early onset or syndromic epilepsy v1.236 AKT1 Rebecca Foulger Gene: akt1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.236 PTEN Rebecca Foulger Marked gene: PTEN as ready
Early onset or syndromic epilepsy v1.236 PTEN Rebecca Foulger Gene: pten has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.236 PIK3CA Rebecca Foulger Marked gene: PIK3CA as ready
Early onset or syndromic epilepsy v1.236 PIK3CA Rebecca Foulger Gene: pik3ca has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.236 PIK3CA Rebecca Foulger Classified gene: PIK3CA as Red List (low evidence)
Early onset or syndromic epilepsy v1.236 PIK3CA Rebecca Foulger Gene: pik3ca has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.235 PIK3CA Rebecca Foulger commented on gene: PIK3CA: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed to demote PIK3CA from Green to Red. This panel is not the appropriate test for somatic variant detection due to the coverage. R110 Segmental overgrowth disorders (panel #98) should be used where megalencephaly is present to allow detection of somatic mosaic mutations.
Early onset or syndromic epilepsy v1.235 PTEN Rebecca Foulger commented on gene: PTEN: Added tags: 'mosaicism' and 'somatic'.
Early onset or syndromic epilepsy v1.235 PTEN Rebecca Foulger Classified gene: PTEN as Red List (low evidence)
Early onset or syndromic epilepsy v1.235 PTEN Rebecca Foulger Gene: pten has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.234 PTEN Rebecca Foulger commented on gene: PTEN: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed to demote AKT1 from Green to Red. This panel is not the appropriate test for somatic variant detection due to the coverage. R110 Segmental overgrowth disorders (panel #98) should be used where megalencephaly is present to allow detection of somatic mosaic mutations.
Early onset or syndromic epilepsy v1.234 PTEN Rebecca Foulger Tag mosaicism tag was added to gene: PTEN.
Tag somatic tag was added to gene: PTEN.
Haematuria v1.30 Eleanor Williams List of related panels changed from Alport syndrome; Familial haematuria to Alport syndrome; Familial haematuria; R194
Early onset or syndromic epilepsy v1.234 AKT1 Rebecca Foulger Classified gene: AKT1 as Red List (low evidence)
Early onset or syndromic epilepsy v1.234 AKT1 Rebecca Foulger Gene: akt1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.233 AKT1 Rebecca Foulger commented on gene: AKT1: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed to demote AKT1 from Green to Red. This panel is not the appropriate test for somatic variant detection due to the coverage. R110 Segmental overgrowth disorders (panel #98) should be used where megalencephaly is present to allow detection of somatic mosaic mutations.
Early onset or syndromic epilepsy v1.233 WDR37 Rebecca Foulger Marked gene: WDR37 as ready
Early onset or syndromic epilepsy v1.233 WDR37 Rebecca Foulger Gene: wdr37 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.233 PEX5 Rebecca Foulger Marked gene: PEX5 as ready
Early onset or syndromic epilepsy v1.233 PEX5 Rebecca Foulger Gene: pex5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.233 KIAA1109 Rebecca Foulger Marked gene: KIAA1109 as ready
Early onset or syndromic epilepsy v1.233 KIAA1109 Rebecca Foulger Gene: kiaa1109 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.233 GTPBP3 Rebecca Foulger Marked gene: GTPBP3 as ready
Early onset or syndromic epilepsy v1.233 GTPBP3 Rebecca Foulger Gene: gtpbp3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.233 EIF2B3 Rebecca Foulger Marked gene: EIF2B3 as ready
Early onset or syndromic epilepsy v1.233 EIF2B3 Rebecca Foulger Gene: eif2b3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.233 EIF2B1 Rebecca Foulger Marked gene: EIF2B1 as ready
Early onset or syndromic epilepsy v1.233 EIF2B1 Rebecca Foulger Gene: eif2b1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.233 EFHC1 Rebecca Foulger Marked gene: EFHC1 as ready
Early onset or syndromic epilepsy v1.233 EFHC1 Rebecca Foulger Gene: efhc1 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.233 DPM2 Rebecca Foulger Marked gene: DPM2 as ready
Early onset or syndromic epilepsy v1.233 DPM2 Rebecca Foulger Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.233 CUL4B Rebecca Foulger Marked gene: CUL4B as ready
Early onset or syndromic epilepsy v1.233 CUL4B Rebecca Foulger Gene: cul4b has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.233 CNPY3 Rebecca Foulger Marked gene: CNPY3 as ready
Early onset or syndromic epilepsy v1.233 CNPY3 Rebecca Foulger Gene: cnpy3 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.153 HADH Sarah Leigh Added comment: Comment on phenotypes: 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation);Hyperinsulinism;Intellectual disability
Undiagnosed metabolic disorders v1.153 HADH Sarah Leigh Phenotypes for gene: HADH were changed from 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation); Hyperinsulinism; Intellectual disability to 3-hydroxyacyl-CoA dehydrogenase deficiency 231530; Hyperinsulinemic hypoglycemia, familial, 4 609975
Likely inborn error of metabolism v1.144 HADH Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Hyperinsulinism;3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation)
Likely inborn error of metabolism v1.144 HADH Sarah Leigh Phenotypes for gene: HADH were changed from Intellectual disability; Hyperinsulinism; 3-alpha-hydroxyacyl- CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) to 3-hydroxyacyl-CoA dehydrogenase deficiency 231530; Hyperinsulinemic hypoglycemia, familial, 4 609975
Early onset or syndromic epilepsy v1.233 PTS Rebecca Foulger Marked gene: PTS as ready
Early onset or syndromic epilepsy v1.233 PTS Rebecca Foulger Gene: pts has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.233 PTS Rebecca Foulger Classified gene: PTS as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.233 PTS Rebecca Foulger Gene: pts has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.232 PTS Rebecca Foulger commented on gene: PTS: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene should be rated Amber to match the rating on the 'Inborn errors of metabolism' panel. The prevailing phenotype is a movement disorder. Demoted from Green to Amber.
Atypical haemolytic uraemic syndrome v1.21 Eleanor Williams List of related panels changed from to R201
Early onset or syndromic epilepsy v1.232 PTS Rebecca Foulger commented on gene: PTS: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. In summary: Severe Hyperphenylalaninemia, BH4-deficient, is accepted to include seizures (PMID:8801112). Because this condition is diagnosed and treated from an early age, seizures may not be reported frequently. PMID:31000854 (Ahmed et al., 2019)assessed hyperphenylalaninemia patients and found 14/18 (78%) had seizures and ID however genetic analysis to see which of these had PTPS/PTS variants was not performed. PMID:9222757 report 1 case of seizures.
Early onset or syndromic epilepsy v1.232 KCNA1 Rebecca Foulger Marked gene: KCNA1 as ready
Early onset or syndromic epilepsy v1.232 KCNA1 Rebecca Foulger Gene: kcna1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.232 KCNA1 Rebecca Foulger commented on gene: KCNA1: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is sufficient evidence to rate this gene Green. Kept rating as Green.
Undiagnosed metabolic disorders v1.152 HADH Sarah Leigh Deleted their comment
Early onset or syndromic epilepsy v1.232 WDR62 Rebecca Foulger Marked gene: WDR62 as ready
Early onset or syndromic epilepsy v1.232 WDR62 Rebecca Foulger Gene: wdr62 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.232 WDR62 Rebecca Foulger Classified gene: WDR62 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.232 WDR62 Rebecca Foulger Gene: wdr62 has been classified as Amber List (Moderate Evidence).
Undiagnosed metabolic disorders v1.152 HADH Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.152 HADH Sarah Leigh Deleted their comment
Early onset or syndromic epilepsy v1.231 WDR62 Rebecca Foulger commented on gene: WDR62: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene should be rated Amber- the microcephaly panels are more appropriate for testing. Demoted from Green to Amber.
Likely inborn error of metabolism v1.143 GNMT Sarah Leigh Classified gene: GNMT as Green List (high evidence)
Likely inborn error of metabolism v1.143 GNMT Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data.
Likely inborn error of metabolism v1.143 GNMT Sarah Leigh Gene: gnmt has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.231 TSEN2 Rebecca Foulger Marked gene: TSEN2 as ready
Early onset or syndromic epilepsy v1.231 TSEN2 Rebecca Foulger Gene: tsen2 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.231 TSEN2 Rebecca Foulger Classified gene: TSEN2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.231 TSEN2 Rebecca Foulger Gene: tsen2 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.143 GNMT Sarah Leigh Phenotypes for gene: GNMT were changed from Glycine N-methyltransferase deficiency to Glycine N-methyltransferase deficiency 606664
Likely inborn error of metabolism v1.142 GNMT Sarah Leigh Classified gene: GNMT as Green List (high evidence)
Likely inborn error of metabolism v1.142 GNMT Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data.
Likely inborn error of metabolism v1.142 GNMT Sarah Leigh Gene: gnmt has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.230 TSEN2 Rebecca Foulger commented on gene: TSEN2: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene should be rated Amber because epilepsy is unlikely to be the primary presenting feature. Demoted from Green to Amber.
Likely inborn error of metabolism v1.142 GNMT Sarah Leigh Classified gene: GNMT as Green List (high evidence)
Likely inborn error of metabolism v1.142 GNMT Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data.
Likely inborn error of metabolism v1.142 GNMT Sarah Leigh Gene: gnmt has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.152 GNMT Sarah Leigh Classified gene: GNMT as Green List (high evidence)
Undiagnosed metabolic disorders v1.152 GNMT Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in 2 unrelated cases, with supportive functional data.
Undiagnosed metabolic disorders v1.152 GNMT Sarah Leigh Gene: gnmt has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.230 SCN9A Rebecca Foulger Marked gene: SCN9A as ready
Early onset or syndromic epilepsy v1.230 SCN9A Rebecca Foulger Gene: scn9a has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.230 SCN9A Rebecca Foulger commented on gene: SCN9A: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is sufficient evidence to rate this gene Green. Kept rating as Green.
Early onset or syndromic epilepsy v1.230 FLNA Rebecca Foulger Marked gene: FLNA as ready
Early onset or syndromic epilepsy v1.230 FLNA Rebecca Foulger Gene: flna has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.230 FLNA Rebecca Foulger commented on gene: FLNA: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is sufficient evidence to rate this gene Green. Kept rating as Green.
Early onset or syndromic epilepsy v1.230 FGFR3 Rebecca Foulger Classified gene: FGFR3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.230 FGFR3 Rebecca Foulger Gene: fgfr3 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.141 GNMT Sarah Leigh Publications for gene: GNMT were set to 27604308; 17660255
Undiagnosed metabolic disorders v1.151 GNMT Sarah Leigh Publications for gene: GNMT were set to 27604308; 17660255
Early onset or syndromic epilepsy v1.229 FGFR3 Rebecca Foulger Marked gene: FGFR3 as ready
Early onset or syndromic epilepsy v1.229 FGFR3 Rebecca Foulger Gene: fgfr3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.229 FGFR3 Rebecca Foulger Classified gene: FGFR3 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.229 FGFR3 Rebecca Foulger Gene: fgfr3 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.228 FGFR3 Rebecca Foulger commented on gene: FGFR3: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene should be rated Amber because the Craniosynostosis panel is more appropriate for testing. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.228 ATP1A2 Rebecca Foulger Marked gene: ATP1A2 as ready
Early onset or syndromic epilepsy v1.228 ATP1A2 Rebecca Foulger Gene: atp1a2 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.228 ATP1A2 Rebecca Foulger commented on gene: ATP1A2: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is sufficient evidence to rate this gene Green. Kept rating as Green.
Likely inborn error of metabolism v1.140 GLUL Sarah Leigh Classified gene: GLUL as Green List (high evidence)
Likely inborn error of metabolism v1.140 GLUL Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in unrelated cases.
Likely inborn error of metabolism v1.140 GLUL Sarah Leigh Gene: glul has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.150 GLUL Sarah Leigh Classified gene: GLUL as Green List (high evidence)
Undiagnosed metabolic disorders v1.150 GLUL Sarah Leigh Added comment: Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in unrelated cases.
Undiagnosed metabolic disorders v1.150 GLUL Sarah Leigh Gene: glul has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.139 GLUL Sarah Leigh Publications for gene: GLUL were set to 27604308; 16267323; 21353613
Likely inborn error of metabolism v1.139 GLUL Sarah Leigh Publications for gene: GLUL were set to 27604308
Undiagnosed metabolic disorders v1.149 GLUL Sarah Leigh Publications for gene: GLUL were set to 27604308
Undiagnosed metabolic disorders v1.148 GLUL Sarah Leigh Added comment: Comment on phenotypes: Glutamine deficiency, congenital (Other disorder of amino acid metabolism);Intellectual disability
Undiagnosed metabolic disorders v1.148 GLUL Sarah Leigh Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital (Other disorder of amino acid metabolism); Intellectual disability to Glutamine deficiency, congenital 610015
Likely inborn error of metabolism v1.138 GLUL Sarah Leigh Added comment: Comment on phenotypes: Intellectual disability;Glutamine deficiency, congenital (Other disorder of amino acid metabolism)
Likely inborn error of metabolism v1.138 GLUL Sarah Leigh Phenotypes for gene: GLUL were changed from Intellectual disability; Glutamine deficiency, congenital (Other disorder of amino acid metabolism) to Glutamine deficiency, congenital 610015
Undiagnosed metabolic disorders v1.147 GLUL Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.147 GK Sarah Leigh Classified gene: GK as Green List (high evidence)
Undiagnosed metabolic disorders v1.147 GK Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported.
Undiagnosed metabolic disorders v1.147 GK Sarah Leigh Gene: gk has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.146 GK Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.146 GK Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.137 GK Sarah Leigh Mode of inheritance for gene: GK was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.15 CFB Eleanor Williams Classified gene: CFB as Green List (high evidence)
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.15 CFB Eleanor Williams Added comment: Comment on list classification: Promoting from Amber to Green. Sufficient cases reported.
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.15 CFB Eleanor Williams Gene: cfb has been classified as Green List (High Evidence).
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.14 CFB Eleanor Williams changed review comment from: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4} (#612924) in OMIM.

PMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given.

PMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship.; to: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4} (#612924) in OMIM.

PMID: 28210841 - Alfakeeh et al 2017 - 7-year-old boy has pathological features compatible with IC-MPGN. A heterozygous variant p.Glu566Arg in exon 13 of the CFB gene was found.

PMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given.

PMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship.
Early onset or syndromic epilepsy v1.228 LYST Rebecca Foulger Marked gene: LYST as ready
Early onset or syndromic epilepsy v1.228 LYST Rebecca Foulger Gene: lyst has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.228 SETD5 Rebecca Foulger Marked gene: SETD5 as ready
Early onset or syndromic epilepsy v1.228 SETD5 Rebecca Foulger Gene: setd5 has been classified as Amber List (Moderate Evidence).
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.14 CFB Eleanor Williams Phenotypes for gene: CFB were changed from Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924; C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN to Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924; C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN; MPGN; Membranoproliferative glomerulonephritis
Early onset or syndromic epilepsy v1.228 WDR45B Rebecca Foulger Marked gene: WDR45B as ready
Early onset or syndromic epilepsy v1.228 WDR45B Rebecca Foulger Gene: wdr45b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.228 WDR45B Rebecca Foulger Classified gene: WDR45B as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.228 WDR45B Rebecca Foulger Gene: wdr45b has been classified as Amber List (Moderate Evidence).
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.13 CFB Eleanor Williams Publications for gene: CFB were set to 25758434; 17182750; 21902819
Early onset or syndromic epilepsy v1.227 WDR45B Rebecca Foulger commented on gene: WDR45B: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green, and an Amber rating is appropriate. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.227 WDR45B Rebecca Foulger commented on gene: WDR45B: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. In summary, the evidence is borderline: PMID:28503735 (Suleiman et al) report 6 individuals from 3 families with homozygous pathogenic variants in WDR45B, and 2 of the families (5 indivs) had seizures- seizures were not reported in the sole individual from family 3.
Early onset or syndromic epilepsy v1.227 SETD5 Rebecca Foulger Classified gene: SETD5 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.227 SETD5 Rebecca Foulger Gene: setd5 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.226 SETD5 Rebecca Foulger commented on gene: SETD5: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green, and an Amber rating is appropriate. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.226 SETD5 Rebecca Foulger commented on gene: SETD5: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. Although four reviewers agreed it should be on EE panel, there is limited evidence of a seizure phenotype. PMID:26482601: (Kobayashi et al., 2016) examined 11 patients with early-onset epileptic encephalopathy, and SETD5 variants were amongst the findings. Therefore awaited clinical input on whether SETD5 should be demoted on this panel.
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.12 CFB Eleanor Williams Added comment: Comment on mode of pathogenicity: Gain of function proposed
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.12 CFB Eleanor Williams Mode of pathogenicity for gene: CFB was changed from to Other
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.11 CFB Eleanor Williams Added comment: Comment on mode of inheritance: Familial case reported shows a monoallelic mode of inheritance
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.11 CFB Eleanor Williams Mode of inheritance for gene: CFB was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.10 CFB Eleanor Williams commented on gene: CFB: Associated with {Hemolytic uremic syndrome, atypical, susceptibility to, 4} (#612924) in OMIM.

PMID: 26283675 - Bu et al 2016 - screened 193 patients using a gene panel facilitate genetic testing in aHUS, TTP, C3GN, and DDD. Report 1 variant found in a patient with aHUS and 3 in patients with C3 glomerulonephritis. Individual patient and variant information not given.

PMID: 25758434 - Imamura et al 2015 - 1 family. Daughter diagnosed with C3 glomerulonephritis, mother treated for membranoproliferative glomerulonephritis, and brother with hypocomplementemia without urinary abnormalities. All 3 found to have heterozygosity for CFB p.S367R that was not present in the unaffected father or younger sister. Other variants were found in the daughter, CFI p.R201S and C3 p.V916I were excluded as in other unaffected individuals or appear in high frequency in other populations. They propose that it is highly likely that p.S367R causes a gain of function in CFB through a structure–function relationship.
Early onset or syndromic epilepsy v1.226 LYST Rebecca Foulger Classified gene: LYST as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.226 LYST Rebecca Foulger Gene: lyst has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.225 LYST Rebecca Foulger commented on gene: LYST: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green, and an Amber rating is appropriate. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.225 LYST Rebecca Foulger commented on gene: LYST: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. Although the mouse model displays seizures (PMID:16518687), there is limited evidence of patients with seizures (no mention of seizures in PMID:9215679, and one 1990 report of Chédiak-Higashi syndrome with seizures from PMID:10450360). Therefore awaiting clinical opinion on whether LYST should be demoted on this panel.
Early onset or syndromic epilepsy v1.225 KIF1BP Rebecca Foulger Marked gene: KIF1BP as ready
Early onset or syndromic epilepsy v1.225 KIF1BP Rebecca Foulger Gene: kif1bp has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.225 KIF1BP Rebecca Foulger Classified gene: KIF1BP as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.225 KIF1BP Rebecca Foulger Gene: kif1bp has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.224 KIF1BP Rebecca Foulger commented on gene: KIF1BP: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green, and an Amber rating is appropriate. Demoted from Green to Amber.
Early onset or syndromic epilepsy v1.224 KIF1BP Rebecca Foulger commented on gene: KIF1BP: Re-reviewed this gene when curating panel for GMS Clinical Indication R59 Early onset or syndromic epilepsy. Although the association with GOLDBERG-SHPRINTZEN MEGACOLON SYNDROME is strong, there is little direct evidence for seizures (PMID:28277559 identifies one case). Therefore awaiting clinical opinion on whether KIF1BP should be demoted.
Early onset or syndromic epilepsy v1.224 GRIA2 Rebecca Foulger changed review comment from: PMID:8938126 (animal model): GluR2 heterozygous (+/−) mice showed reduced motor coordination but no sign of seizure activity as measured by observation, EEG, or post-mortem analysis.; to: PMID:8938126- animal model doesn't report seizures: GluR2 heterozygous (+/−) mice showed reduced motor coordination but no sign of seizure activity as measured by observation, EEG, or post-mortem analysis.
Early onset or syndromic epilepsy v1.224 WDR37 Rebecca Foulger Classified gene: WDR37 as Green List (high evidence)
Early onset or syndromic epilepsy v1.224 WDR37 Rebecca Foulger Gene: wdr37 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.223 WDR37 Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green. Promoted from Grey to Green.
Early onset or syndromic epilepsy v1.223 WDR37 Rebecca Foulger commented on gene: WDR37: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green.
Early onset or syndromic epilepsy v1.223 WDR37 Rebecca Foulger commented on gene: WDR37: WDR37 was added to the panel and rated Green by Konstantinos Varvagiannis. Although WDR37 is not yet associated with a disorder in OMIM or Gene2Phenotype, (as Konstantinos notes) there are sufficient unrelated cases from PMID:31327510 and PMID:31327508 with seizures (all 9 patients) for inclusion on the panel.
Early onset or syndromic epilepsy v1.223 WDR37 Rebecca Foulger changed review comment from: Added missense tag: only missense variants reported so far (PMID:31327510).; to: Added missense tag: only missense variants reported so far (PMIDs 31327510, 31327508).
Early onset or syndromic epilepsy v1.223 WDR37 Rebecca Foulger commented on gene: WDR37
Early onset or syndromic epilepsy v1.223 WDR37 Rebecca Foulger Tag missense tag was added to gene: WDR37.
Early onset or syndromic epilepsy v1.223 PIGU Rebecca Foulger Marked gene: PIGU as ready
Early onset or syndromic epilepsy v1.223 PIGU Rebecca Foulger Gene: pigu has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.223 PIGH Rebecca Foulger Marked gene: PIGH as ready
Early onset or syndromic epilepsy v1.223 PIGH Rebecca Foulger Gene: pigh has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.223 PIGC Rebecca Foulger Marked gene: PIGC as ready
Early onset or syndromic epilepsy v1.223 PIGC Rebecca Foulger Gene: pigc has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.223 RRM2B Rebecca Foulger Marked gene: RRM2B as ready
Early onset or syndromic epilepsy v1.223 RRM2B Rebecca Foulger Gene: rrm2b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.223 TRAF7 Rebecca Foulger Marked gene: TRAF7 as ready
Early onset or syndromic epilepsy v1.223 TRAF7 Rebecca Foulger Gene: traf7 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.223 TRAPPC12 Rebecca Foulger Marked gene: TRAPPC12 as ready
Early onset or syndromic epilepsy v1.223 TRAPPC12 Rebecca Foulger Gene: trappc12 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.223 TRAPPC6B Rebecca Foulger Marked gene: TRAPPC6B as ready
Early onset or syndromic epilepsy v1.223 TRAPPC6B Rebecca Foulger Gene: trappc6b has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.223 GNB5 Rebecca Foulger Marked gene: GNB5 as ready
Early onset or syndromic epilepsy v1.223 GNB5 Rebecca Foulger Gene: gnb5 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.223 GNB5 Rebecca Foulger commented on gene: GNB5: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green.
Early onset or syndromic epilepsy v1.223 TRAPPC6B Rebecca Foulger commented on gene: TRAPPC6B: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber.
Early onset or syndromic epilepsy v1.223 TRAPPC12 Rebecca Foulger commented on gene: TRAPPC12: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber:
Early onset or syndromic epilepsy v1.223 TRAF7 Rebecca Foulger commented on gene: TRAF7: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber: TRAF7 is Green on the Intellectual disability and Paediatric disorders panels, which would be appropriate for the presenting phenotype.
Early onset or syndromic epilepsy v1.223 RRM2B Rebecca Foulger commented on gene: RRM2B: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber: RRM2B is Green on the 'Inborn errors of metabolism' panel (467) so will be Green on the Epilepsy Super panel (489).
Early onset or syndromic epilepsy v1.223 PIGU Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green: PIGx genes act in the same biochemical pathway. Promoted from Grey to Green.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green: PIGx genes act in the same biochemical pathway. Promoted from Grey to Green.
Early onset or syndromic epilepsy v1.223 PIGH Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green: PIGx genes act in the same biochemical pathway. Promoted from Amber to Green.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green: PIGx genes act in the same biochemical pathway. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.223 PIGC Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green: PIGx genes act in the same biochemical pathway. Promoted from Amber to Green.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green: PIGx genes act in the same biochemical pathway. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.223 PEX5 Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that this gene can remain as Amber: PEX5 is Green on the 'Inborn errors of metabolism' panel (467) so will be Green on the Epilepsy Super panel (489).; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber: PEX5 is Green on the 'Inborn errors of metabolism' panel (467) so will be Green on the Epilepsy Super panel (489).
Early onset or syndromic epilepsy v1.223 KIAA1109 Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green- although epilepsy may be secondary to the cerebral malformations presentation, include KIAA1109 so that cases recruited through different routes are not missed. Promoted from Amber to Green.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green- although epilepsy may be secondary to the cerebral malformations presentation, include KIAA1109 so that cases recruited through different routes are not missed. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.223 EIF2B3 Rebecca Foulger Classified gene: EIF2B3 as Green List (high evidence)
Early onset or syndromic epilepsy v1.223 EIF2B3 Rebecca Foulger Gene: eif2b3 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.222 EIF2B3 Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green. Epilepsy is a feature of Vanishing White Matter Disorder, and therefore should include on the panel for early diagnosis in children. Promoted from Amber to Green.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green. Epilepsy is a feature of Vanishing White Matter Disorder, and therefore should include on the panel for early diagnosis in children. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.222 EIF2B1 Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green. Epilepsy is a feature of Vanishing White Matter Disorder, and therefore should include on the panel for early diagnosis in children. Promoted from Amber to Green.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green. Epilepsy is a feature of Vanishing White Matter Disorder, and therefore should include on the panel for early diagnosis in children. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.222 EFHC1 Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that this gene should remain as Amber: EFHC1 may be a susceptibility locus. Currently insufficient evidence to support a monogenic association with epilepsy.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene should remain as Amber: EFHC1 may be a susceptibility locus. Currently insufficient evidence to support a monogenic association with epilepsy.
Early onset or syndromic epilepsy v1.222 DPM2 Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that this gene can remain as Amber: DPM2 is Green on the 'Inborn errors of metabolism' panel (467) so will be Green on the Epilepsy Super panel (489).; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber: DPM2 is Green on the 'Inborn errors of metabolism' panel (467) so will be Green on the Epilepsy Super panel (489).
Early onset or syndromic epilepsy v1.222 CUL4B Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green. Promoted from Amber to Green.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green. Promoted from Amber to Green.
Early onset or syndromic epilepsy v1.222 CNPY3 Rebecca Foulger changed review comment from: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green. Helen Lord (Oxford Medical Genetics Laboratories) notes that there are two further 2019 paper supporting inclusion. Promoted from Amber to Green.; to: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is enough evidence to rate this gene Green. Helen Lord (Oxford Medical Genetics Laboratories) notes that there are two further 2019 paper supporting inclusion. Promoted from Amber to Green.
Intellectual disability v2.999 PIGU Rebecca Foulger Classified gene: PIGU as Green List (high evidence)
Intellectual disability v2.999 PIGU Rebecca Foulger Gene: pigu has been classified as Green List (High Evidence).
Intellectual disability v2.998 PIGU Rebecca Foulger commented on gene: PIGU: PIGU (together with other PIGx genes) were discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 to discuss R59 Early onset or syndromic epilepsy. Agreed that there is enough evidence to rate PIGU Green on the 'Genetic epilepsy syndromes' panel (402). Therefore applied Green rating to the ID panel also: although PIGU is not yet associated with a disorder in OMIM or Gene2Phenotype, there are sufficient unrelated cases described in PMID:31353022.
Intellectual disability v2.998 PIGU Rebecca Foulger commented on gene: PIGU: Added 'missense' tag as missense variants only reported so far (PMID:31353022).
Intellectual disability v2.998 PIGU Rebecca Foulger Tag missense tag was added to gene: PIGU.
Intellectual disability v2.998 PIGU Rebecca Foulger commented on gene: PIGU: PMID:31353022 (Knaus et al. 2019) report two homozygous missense mutations (c.209T>A [p.Ile70Lys] and c.1149C>A [p.Asn383Lys]) in 5 individuals from 3 unrelated families. All individuals presented with global DD severe-to-profound ID, muscular hypotonia, seizures, brain anomalies, scoliosis, and mild facial dysmorphism. Sequencing confirmed that all parents were healthy carriers. c.209T>A has not been observed in gnomAD while c.1149C>A has been observed only in the heterozygous state (7/277194).
Intellectual disability v2.998 PIGU Rebecca Foulger commented on gene: PIGU
Early onset or syndromic epilepsy v1.222 PIGU Rebecca Foulger Phenotypes for gene: PIGU were changed from Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Cerebellar hypoplasia; Scoliosis to myoclonic seizures; focal myoclonic seizures; Global developmental delay; Intellectual disability; Seizures; Cerebral atrophy; Cerebellar hypoplasia; Scoliosis
Early onset or syndromic epilepsy v1.221 PIGU Rebecca Foulger Classified gene: PIGU as Green List (high evidence)
Early onset or syndromic epilepsy v1.221 PIGU Rebecca Foulger Gene: pigu has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.220 PIGU Rebecca Foulger commented on gene: PIGU: As discussed with members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019: Agreed that there is enough evidence to rate this gene Green: PIGx genes act in the same biochemical pathway. Promoted from Grey to Green.
Early onset or syndromic epilepsy v1.220 PIGU Rebecca Foulger changed review comment from: PMID:31353022 (Knaus et al. 2019) report two homozygous missense mutations (c.209T>A [p.Ile70Lys] and c.1149C>A [p.Asn383Lys]) in 5 individuals from 3 unrelated families. All individuals presented with global DD severe-to-profound ID, muscular hypotonia, seizures (myoclonic and focal myoclonic in all 5 probands), brain anomalies, scoliosis, and mild facial dysmorphism. Sequencing confirmed that all parents were healthy carriers. c.209T>A has not been observed in gnomAD while c.1149C>A has been observed only in the heterozygous state (7/277194).; to: PMID:31353022 (Knaus et al. 2019) report two homozygous missense mutations (c.209T>A [p.Ile70Lys] and c.1149C>A [p.Asn383Lys]) in 5 individuals from 3 unrelated families. All individuals presented with global DD severe-to-profound ID, muscular hypotonia, seizures (myoclonic/focal myoclonic in all 5 probands), brain anomalies, scoliosis, and mild facial dysmorphism. Sequencing confirmed that all parents were healthy carriers. c.209T>A has not been observed in gnomAD while c.1149C>A has been observed only in the heterozygous state (7/277194).
Early onset or syndromic epilepsy v1.220 PIGU Rebecca Foulger commented on gene: PIGU: PIGU is not yet associated with a disorder in OMIM or Gene2Phenotype.
Early onset or syndromic epilepsy v1.220 PIGU Rebecca Foulger commented on gene: PIGU: PMID:31353022 (Knaus et al. 2019) report two homozygous missense mutations (c.209T>A [p.Ile70Lys] and c.1149C>A [p.Asn383Lys]) in 5 individuals from 3 unrelated families. All individuals presented with global DD severe-to-profound ID, muscular hypotonia, seizures (myoclonic and focal myoclonic in all 5 probands), brain anomalies, scoliosis, and mild facial dysmorphism. Sequencing confirmed that all parents were healthy carriers. c.209T>A has not been observed in gnomAD while c.1149C>A has been observed only in the heterozygous state (7/277194).
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.10 C3 Eleanor Williams Classified gene: C3 as Green List (high evidence)
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.10 C3 Eleanor Williams Added comment: Comment on list classification: 2 cases plus functional data and expert review green.
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.10 C3 Eleanor Williams Gene: c3 has been classified as Green List (High Evidence).
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.9 C3 Eleanor Williams Publications for gene: C3 were set to 24172683; 20852386; 18796626; 21902819
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.8 C3 Eleanor Williams Added comment: Comment on mode of pathogenicity: Gain of function
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.8 C3 Eleanor Williams Mode of pathogenicity for gene: C3 was changed from to Other
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.7 C3 Eleanor Williams Mode of inheritance for gene: C3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.6 C3 Eleanor Williams commented on gene: C3: Associated with C3 deficiency (#613779) and {Hemolytic uremic syndrome, atypical, susceptibility to, 5} (#612925) in OMIM.

PMID: 20852386 - Martínez-Barricarte et al 2010 - report a case a mother and her two identical twin sons with Dense deposit disease (DDD) caused by a heterozygous variant in the C3 gene. The mutation, c.2767_2774delACGGTG (C3923ΔDG) in exon 21, results in a mutated protein (C3923ΔDG) lacking 2 amino acids (Asp923 and Gly924) in the MG7 domain of C3. The deletion was only present in affected family members. Functional studies suggest a gain of function.

PMID: 26471127 - Chauvet et al 2016 - report functional characterization of a C3 mutation identified in two brothers with C3GN (C3 glomerulopathy). Both carry the same c.2327T>C heterozygous mutation in the C3 gene, leading to p.I756T. The mutation was not found in the 1000 genomes or EVS databases. In vitro the C3 mutation exhibited decreased binding to CR1, resulting in less CR1-dependent cleavage of C3b by factor 1.
Atypical haemolytic uraemic syndrome v1.20 THBD Eleanor Williams Phenotypes for gene: THBD were changed from Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926 to Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926; Thrombophilia due to thrombomodulin defect 614486
Atypical haemolytic uraemic syndrome v1.19 VTN Eleanor Williams Phenotypes for gene: VTN were changed from to Atypical haemolytic uraemic syndrome; aHUS
Atypical haemolytic uraemic syndrome v1.18 VTN Eleanor Williams Publications for gene: VTN were set to
Atypical haemolytic uraemic syndrome v1.17 VTN Eleanor Williams Mode of inheritance for gene: VTN was changed from to Unknown
Atypical haemolytic uraemic syndrome v1.16 INF2 Eleanor Williams Phenotypes for gene: INF2 were changed from to Charcot-Marie-Tooth disease, dominant intermediate E, 614455; Glomerulosclerosis, focal segmental, 5, 613237
Atypical haemolytic uraemic syndrome v1.15 INF2 Eleanor Williams Publications for gene: INF2 were set to
Atypical haemolytic uraemic syndrome v1.14 INF2 Eleanor Williams Mode of inheritance for gene: INF2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Atypical haemolytic uraemic syndrome v1.13 MMACHC Eleanor Williams changed review comment from: PMID: 29068997 - Chen et al 2017 - 4-year-old girl with a diagnosis of aHUS. Genetic analysis revealed a compound heterozygous MMACHC mutation exonl: c. 80A >G, c. 609G >A. After treated by vitamin B12 for 10 days, the patient condition significantly improved. Note: her healthy younger sister also had both mutations. Her parents each had one of the variants.

PMID: 27324188 - Adrovic et al 2016 - describe the case of a 6-year-old girl with cblC disorder, who presented with severe multiorgan involvement at the age of 5 months and who was successfully treated with vitamin B12, betaine, coenzyme Q10 and l-carnitene, and who had a new homozygous mutation of MMACHC c. 484G > T, p.Gly162Trp

PMID: 24210589 - Cornec-Le Gall et al 2014 - Abstract only accessed. Describe a patient with atypical hemolytic uremic syndrome that did not respond to eculizumab. Very low plasma methionine levels associated with methylmalonic aciduria, which suggested cobalamin C disease. MMACHC sequencing revealed compound heterozygosity for 2 causative mutations.

PMID: 17874135 - Sharma et al 2007 - report a child diagnosed with Diarrhea-negative HUS secondary to cblC disease in infancy. Mutation analysis in this patient identified homozygosity for the 271 dupA mutation (c.271 dupA) in the cblC MMACHC gene.

PMID: 12210350 - Van Hove et al 2002 - Abstract only accessed. Report 2 siblings,with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Both patients and their father carry a balanced reciprocal translocation but the abstract does not state where in the genome this is.

PMID: 1593355 - Geraghty et al 1992 - Abstract only accessed. Describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. No sequencing of the gene reported in the abstract.

PMID: 11972107 - Kind et al 2002 - a case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. No sequencing of the gene reported.; to: Associated with Methylmalonic aciduria and homocystinuria, cblC type (#277400) in OMIM.

PMID: 29068997 - Chen et al 2017 - 4-year-old girl with a diagnosis of aHUS. Genetic analysis revealed a compound heterozygous MMACHC mutation exonl: c. 80A >G, c. 609G >A. After treated by vitamin B12 for 10 days, the patient condition significantly improved. Note: her healthy younger sister also had both mutations. Her parents each had one of the variants.

PMID: 27324188 - Adrovic et al 2016 - describe the case of a 6-year-old girl with cblC disorder, who presented with severe multiorgan involvement at the age of 5 months and who was successfully treated with vitamin B12, betaine, coenzyme Q10 and l-carnitene, and who had a new homozygous mutation of MMACHC c. 484G > T, p.Gly162Trp

PMID: 24210589 - Cornec-Le Gall et al 2014 - Abstract only accessed. Describe a patient with atypical hemolytic uremic syndrome that did not respond to eculizumab. Very low plasma methionine levels associated with methylmalonic aciduria, which suggested cobalamin C disease. MMACHC sequencing revealed compound heterozygosity for 2 causative mutations.

PMID: 17874135 - Sharma et al 2007 - report a child diagnosed with Diarrhea-negative HUS secondary to cblC disease in infancy. Mutation analysis in this patient identified homozygosity for the 271 dupA mutation (c.271 dupA) in the cblC MMACHC gene.

PMID: 12210350 - Van Hove et al 2002 - Abstract only accessed. Report 2 siblings,with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Both patients and their father carry a balanced reciprocal translocation but the abstract does not state where in the genome this is.

PMID: 1593355 - Geraghty et al 1992 - Abstract only accessed. Describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. No sequencing of the gene reported in the abstract.

PMID: 11972107 - Kind et al 2002 - a case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. No sequencing of the gene reported.
Atypical haemolytic uraemic syndrome v1.13 MMACHC Eleanor Williams Phenotypes for gene: MMACHC were changed from to Methylmalonic aciduria and homocystinuria, cblC type, 277400
Atypical haemolytic uraemic syndrome v1.12 MMACHC Eleanor Williams Publications for gene: MMACHC were set to
Atypical haemolytic uraemic syndrome v1.11 MMACHC Eleanor Williams Mode of inheritance for gene: MMACHC was changed from to BIALLELIC, autosomal or pseudoautosomal
Atypical haemolytic uraemic syndrome v1.10 MMACHC Eleanor Williams Classified gene: MMACHC as Green List (high evidence)
Atypical haemolytic uraemic syndrome v1.10 MMACHC Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. More than 3 cases, with different variants reported, although in one case the healthy sister also had the same variants as the proband.
Atypical haemolytic uraemic syndrome v1.10 MMACHC Eleanor Williams Gene: mmachc has been classified as Green List (High Evidence).
Atypical haemolytic uraemic syndrome v1.9 MMACHC Eleanor Williams changed review comment from: PMID: 29068997 - Chen et al 2017 - 4-year-old girl with a diagnosis of aHUS. Genetic analysis revealed a compound heterozygous MMACHC mutation exonl: c. 80A >G, c. 609G >A. After treated by vitamin B12 for 10 days, the patient condition significantly improved. Note: her healthy younger sister also had both mutations. Her parents each had one of the variants.

PMID: 27324188 - Adrovic et al 2016 - describe the case of a 6-year-old girl with cblC disorder, who presented with severe multiorgan involvement at the age of 5 months and who was successfully treated with vitamin B12, betaine, coenzyme Q10 and l-carnitene, and who had a new homozygous mutation of MMACHC c. 484G > T, p.Gly162Trp

PMID: 24210589 - Cornec-Le Gall et al 2014 - Abstract only accessed. Describe a patient with atypical hemolytic uremic syndrome that did not respond to eculizumab. Very low plasma methionine levels associated with methylmalonic aciduria, which suggested cobalamin C disease. MMACHC sequencing revealed compound heterozygosity for 2 causative mutations.

PMID: 12210350 - Van Hove et al 2002 - Abstract only accessed. Report 2 siblings,with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Both patients and their father carry a balanced reciprocal translocation but the abstract does not state where in the genome this is.

PMID: 17874135 - Sharma et al 2007 - report a child diagnosed with Diarrhea-negative HUS secondary to cblC disease in infancy. Mutation analysis in this patient identified homozygosity for the 271 dupA mutation (c.271 dupA) in the cblC MMACHC gene.

PMID: 1593355 - Geraghty et al 1992 - Abstract only accessed. Describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. No sequencing of the gene reported in the abstract.

PMID: 11972107 - Kind et al 2002 - a case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. No sequencing of the gene reported.; to: PMID: 29068997 - Chen et al 2017 - 4-year-old girl with a diagnosis of aHUS. Genetic analysis revealed a compound heterozygous MMACHC mutation exonl: c. 80A >G, c. 609G >A. After treated by vitamin B12 for 10 days, the patient condition significantly improved. Note: her healthy younger sister also had both mutations. Her parents each had one of the variants.

PMID: 27324188 - Adrovic et al 2016 - describe the case of a 6-year-old girl with cblC disorder, who presented with severe multiorgan involvement at the age of 5 months and who was successfully treated with vitamin B12, betaine, coenzyme Q10 and l-carnitene, and who had a new homozygous mutation of MMACHC c. 484G > T, p.Gly162Trp

PMID: 24210589 - Cornec-Le Gall et al 2014 - Abstract only accessed. Describe a patient with atypical hemolytic uremic syndrome that did not respond to eculizumab. Very low plasma methionine levels associated with methylmalonic aciduria, which suggested cobalamin C disease. MMACHC sequencing revealed compound heterozygosity for 2 causative mutations.

PMID: 17874135 - Sharma et al 2007 - report a child diagnosed with Diarrhea-negative HUS secondary to cblC disease in infancy. Mutation analysis in this patient identified homozygosity for the 271 dupA mutation (c.271 dupA) in the cblC MMACHC gene.

PMID: 12210350 - Van Hove et al 2002 - Abstract only accessed. Report 2 siblings,with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Both patients and their father carry a balanced reciprocal translocation but the abstract does not state where in the genome this is.

PMID: 1593355 - Geraghty et al 1992 - Abstract only accessed. Describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. No sequencing of the gene reported in the abstract.

PMID: 11972107 - Kind et al 2002 - a case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. No sequencing of the gene reported.
Atypical haemolytic uraemic syndrome v1.9 MMACHC Eleanor Williams commented on gene: MMACHC: PMID: 29068997 - Chen et al 2017 - 4-year-old girl with a diagnosis of aHUS. Genetic analysis revealed a compound heterozygous MMACHC mutation exonl: c. 80A >G, c. 609G >A. After treated by vitamin B12 for 10 days, the patient condition significantly improved. Note: her healthy younger sister also had both mutations. Her parents each had one of the variants.

PMID: 27324188 - Adrovic et al 2016 - describe the case of a 6-year-old girl with cblC disorder, who presented with severe multiorgan involvement at the age of 5 months and who was successfully treated with vitamin B12, betaine, coenzyme Q10 and l-carnitene, and who had a new homozygous mutation of MMACHC c. 484G > T, p.Gly162Trp

PMID: 24210589 - Cornec-Le Gall et al 2014 - Abstract only accessed. Describe a patient with atypical hemolytic uremic syndrome that did not respond to eculizumab. Very low plasma methionine levels associated with methylmalonic aciduria, which suggested cobalamin C disease. MMACHC sequencing revealed compound heterozygosity for 2 causative mutations.

PMID: 12210350 - Van Hove et al 2002 - Abstract only accessed. Report 2 siblings,with proteinuria and hematuria, hypertension, and chronic hemolytic anemia. Both patients had hyperhomocysteinemia and mild methylmalonic aciduria. Both patients and their father carry a balanced reciprocal translocation but the abstract does not state where in the genome this is.

PMID: 17874135 - Sharma et al 2007 - report a child diagnosed with Diarrhea-negative HUS secondary to cblC disease in infancy. Mutation analysis in this patient identified homozygosity for the 271 dupA mutation (c.271 dupA) in the cblC MMACHC gene.

PMID: 1593355 - Geraghty et al 1992 - Abstract only accessed. Describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. No sequencing of the gene reported in the abstract.

PMID: 11972107 - Kind et al 2002 - a case of cobalamin C disease associated with hemolytic-uremic syndrome (HUS) in the neonatal period is described. No sequencing of the gene reported.
Proteinuric renal disease v1.221 LAMA5 Eleanor Williams changed review comment from: Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29534211 - Braun et al 2019 - performed WES in 335 individuals of 300 families with Nephrotic syndrome and identified recessive mutations in the gene LAMA5 in three unrelated consanguineous families with childhood-onset NS that responded to immunosuppressive therapy. The 3 families were from Turkey, Egypt and Saudia Arabia and the following 3 missense variants were found - family A4389: c.2239 C >T, p.Arg747Trp, family B150: c.3002 A>G, p.Glu1001Gly, family B1284: c.8842 G>A, p.Gly2948Ser. In two families, the parents were shown to be heterozygous for the variants. None of the three variants has been reported in the homozygous state in databases of healthy control populations (EVS and gnomAD) although individuals of Middle Eastern descent are poorly represented in these databases. The authors state that because experimental evidence is lacking, the impact of these genetic variants on protein function and disease pathogenesis cannot be judged with certainty.; to: Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29534211 - Braun et al 2019 - performed WES in 335 individuals of 300 families with Nephrotic syndrome and identified recessive mutations in the gene LAMA5 in three unrelated consanguineous families with childhood-onset NS that responded to immunosuppressive therapy. The 3 families were from Turkey, Egypt and Saudia Arabia and the following 3 missense variants were found - family A4389: c.2239 C >T, p.Arg747Trp, family B150: c.3002 A>G, p.Glu1001Gly, family B1284: c.8842 G>A, p.Gly2948Ser. There is evolutionary conservation at these sites. In two families, the parents were shown to be heterozygous for the variants. None of the three variants has been reported in the homozygous state in databases of healthy control populations (EVS and gnomAD) although individuals of Middle Eastern descent are poorly represented in these databases. The authors state that because experimental evidence is lacking, the impact of these genetic variants on protein function and disease pathogenesis cannot be judged with certainty.
Proteinuric renal disease v1.221 LAMA5 Eleanor Williams changed review comment from: Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29534211 - Braun et al 2019 - performed WES in 335 individuals of 300 families with Nephrotic syndrome and identified recessive mutations in the gene LAMA5 in three unrelated consanguineous families with childhood-onset NS that responded to immunosuppressive therapy. The 3 families were from Turkey, Egypt and Saudia Arabia and the following 3 missense variants were found - family A4389: c.2239 C >T, p.Arg747Trp, family B150: c.3002 A>G, p.Glu1001Gly, family B1284: c.8842 G>A, p.Gly2948Ser. In two families, the parents were shown to be heterozygous for the variants. None of the three variants has been reported in the homozygous state in databases of healthy control populations (EVS and gnomAD) although individuals of Middle Eastern descent are poorly represented in these databases. The authors state that because experimental evidence is lacking, the impact of these genetic variants on protein function and disease pathogenesis cannot be judged with certainty.; to: Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29534211 - Braun et al 2019 - performed WES in 335 individuals of 300 families with Nephrotic syndrome and identified recessive mutations in the gene LAMA5 in three unrelated consanguineous families with childhood-onset NS that responded to immunosuppressive therapy. The 3 families were from Turkey, Egypt and Saudia Arabia and the following 3 missense variants were found - family A4389: c.2239 C >T, p.Arg747Trp, family B150: c.3002 A>G, p.Glu1001Gly, family B1284: c.8842 G>A, p.Gly2948Ser. In two families, the parents were shown to be heterozygous for the variants. None of the three variants has been reported in the homozygous state in databases of healthy control populations (EVS and gnomAD) although individuals of Middle Eastern descent are poorly represented in these databases. The authors state that because experimental evidence is lacking, the impact of these genetic variants on protein function and disease pathogenesis cannot be judged with certainty.
Proteinuric renal disease v1.221 LAMA5 Eleanor Williams commented on gene: LAMA5: Not associated with a phenotype in OMIM or Gene2Phenotype.

PMID: 29534211 - Braun et al 2019 - performed WES in 335 individuals of 300 families with Nephrotic syndrome and identified recessive mutations in the gene LAMA5 in three unrelated consanguineous families with childhood-onset NS that responded to immunosuppressive therapy. The 3 families were from Turkey, Egypt and Saudia Arabia and the following 3 missense variants were found - family A4389: c.2239 C >T, p.Arg747Trp, family B150: c.3002 A>G, p.Glu1001Gly, family B1284: c.8842 G>A, p.Gly2948Ser. In two families, the parents were shown to be heterozygous for the variants. None of the three variants has been reported in the homozygous state in databases of healthy control populations (EVS and gnomAD) although individuals of Middle Eastern descent are poorly represented in these databases. The authors state that because experimental evidence is lacking, the impact of these genetic variants on protein function and disease pathogenesis cannot be judged with certainty.
Hereditary systemic amyloidosis v0.7 TTR Eleanor Williams commented on gene: TTR: Associated with Amyloidosis, hereditary, transthyretin-related (#105210) in OMIM. Lots of cases reported in OMIM.
Amelogenesis imperfecta v1.16 Eleanor Williams List of related panels changed from Amelogenesis Imperfecta to Amelogenesis Imperfecta; R340
Osteogenesis imperfecta v1.52 Eleanor Williams List of related panels changed from Osteogenesis Imperfecta to Osteogenesis Imperfecta; R102
Ehlers Danlos syndrome with a likely monogenic cause v1.63 ACTA2 Eleanor Williams Mode of inheritance for gene: ACTA2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ehlers Danlos syndrome with a likely monogenic cause v1.62 MYLK Eleanor Williams commented on gene: MYLK: This gene is associated with Familial thoracic aortic aneurysm. Although patients with variants in this gene may present with EDS features it was decided following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04 it to keep this gene amber. If more evidence of an overlap in phenotypes becomes available the rating can be reviewed.
Ehlers Danlos syndrome with a likely monogenic cause v1.62 Eleanor Williams List of related panels changed from Classical Ehlers Danlos Syndrome; Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense); Ehlers-Danlos syndrome type 3; Kyphoscoliotic Ehlers-Danlos syndrome; EDS; Ehlers-Danlos syndromes to Classical Ehlers Danlos Syndrome; Ehlers-Danlos Syndrome (unusual phenotypes e.g. absent pain sense); Ehlers-Danlos syndrome type 3; Kyphoscoliotic Ehlers-Danlos syndrome; EDS; Ehlers-Danlos syndromes; R101
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.127 TMCO1 Eleanor Williams Phenotypes for gene: TMCO1 were changed from MR syndrome; Cerebrofaciothoracic dysplasia/ craniofacial dysmorphism; skeletal anomalies to MR syndrome; Cerebrofaciothoracic dysplasia/ craniofacial dysmorphism; skeletal anomalies; Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.126 TMCO1 Eleanor Williams changed review comment from: Associated with Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (#213980) in OMIM and Gene2Phenotype (confirmed)

PMID: 20018682 - Xin et al 2010 - identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. They identified a homozygous frameshift mutation, c.139_140delAG, in TMCO1 in all affected members of the extended pedigree. 2 of the 11 individuals showed craniosynostosis.

PMID: 24424126 - Pehlivan et al 2014 - report a patient with cerebro-facio-thoracic dysplasia with a homozygous splice-site mutation TMC01 identified using WES. Cranial MRI revealed frontotemporal atrophy, dilated lateral ventricles and a short, dysgenetic corpus callosum.

PMID: 24194475 - Alanay et al 2013 - identified a homozygous nonsense founder mutation, p.Arg87Ter (c.259 C>T), in TMCO1 in 4 families of Turkish origin with Cerebrofaciothoracic dysplasia. Patient 4 from family 2 had a Prominent metopic suture (craniosynostosis).

3 cases with craniosynostosis reported.; to: Associated with Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (#213980) in OMIM and Gene2Phenotype (confirmed)

PMID: 20018682 - Xin et al 2010 - identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. They identified a homozygous frameshift mutation, c.139_140delAG, in TMCO1 in all affected members of the extended pedigree. 2 of the 11 individuals showed craniosynostosis.

PMID: 24424126 - Pehlivan et al 2014 - report a patient with cerebro-facio-thoracic dysplasia with a homozygous splice-site mutation TMC01 identified using WES. Cranial MRI revealed frontotemporal atrophy, dilated lateral ventricles and a short, dysgenetic corpus callosum.

PMID: 24194475 - Alanay et al 2013 - identified a homozygous nonsense founder mutation, p.Arg87Ter (c.259 C>T), in TMCO1 in 4 families of Turkish origin with Cerebrofaciothoracic dysplasia. Patient 4 from family 2 had a Prominent metopic suture (craniosynostosis).

3 cases with craniosynostosis reported.

Other cases have been reported, but without craniosysnosotis e.g. PMID: 23320496, PMID: 31102500, PMID: 30556256
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.126 TMCO1 Eleanor Williams Publications for gene: TMCO1 were set to
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.125 TMCO1 Eleanor Williams Classified gene: TMCO1 as Green List (high evidence)
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.125 TMCO1 Eleanor Williams Added comment: Comment on list classification: Promoting from red to green as there are 3 cases reported with craniosynostosis as a feature.
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.125 TMCO1 Eleanor Williams Gene: tmco1 has been classified as Green List (High Evidence).
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.124 TMCO1 Eleanor Williams commented on gene: TMCO1: Associated with Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome (#213980) in OMIM and Gene2Phenotype (confirmed)

PMID: 20018682 - Xin et al 2010 - identified an autosomal recessive condition in 11 individuals in the Old Order Amish of northeastern Ohio. The syndrome was characterized by distinctive craniofacial dysmorphism, skeletal anomalies, and mental retardation. They identified a homozygous frameshift mutation, c.139_140delAG, in TMCO1 in all affected members of the extended pedigree. 2 of the 11 individuals showed craniosynostosis.

PMID: 24424126 - Pehlivan et al 2014 - report a patient with cerebro-facio-thoracic dysplasia with a homozygous splice-site mutation TMC01 identified using WES. Cranial MRI revealed frontotemporal atrophy, dilated lateral ventricles and a short, dysgenetic corpus callosum.

PMID: 24194475 - Alanay et al 2013 - identified a homozygous nonsense founder mutation, p.Arg87Ter (c.259 C>T), in TMCO1 in 4 families of Turkish origin with Cerebrofaciothoracic dysplasia. Patient 4 from family 2 had a Prominent metopic suture (craniosynostosis).

3 cases with craniosynostosis reported.