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Unexplained young onset end-stage renal disease v0.3 BSND Eleanor Williams Added comment: Comment on list classification: Changed rating from Red to Green as this gene is Green on the Renal tubulopathies (Version 1.21) panel.
Unexplained young onset end-stage renal disease v0.3 BSND Eleanor Williams Gene: bsnd has been classified as Green List (High Evidence).
Unexplained young onset end-stage renal disease v0.2 ISCA-37432-Loss Eleanor Williams commented on Region: ISCA-37432-Loss
Unexplained young onset end-stage renal disease v0.2 ISCA-37405-Loss Eleanor Williams commented on Region: ISCA-37405-Loss
Unexplained young onset end-stage renal disease v0.2 ISCA-37401-Loss Eleanor Williams commented on Region: ISCA-37401-Loss
Unexplained young onset end-stage renal disease v0.2 ZNF423 Eleanor Williams reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ZMPSTE24 Eleanor Williams reviewed gene: ZMPSTE24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 XPNPEP3 Eleanor Williams reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 WDPCP Eleanor Williams reviewed gene: WDPCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 VIPAS39 Eleanor Williams reviewed gene: VIPAS39: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 UPK3A Eleanor Williams reviewed gene: UPK3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 UPK2 Eleanor Williams reviewed gene: UPK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TTC8 Eleanor Williams reviewed gene: TTC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TSHZ3 Eleanor Williams reviewed gene: TSHZ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TRIM32 Eleanor Williams reviewed gene: TRIM32: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TNXB Eleanor Williams reviewed gene: TNXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TMEM237 Eleanor Williams reviewed gene: TMEM237: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TMEM231 Eleanor Williams reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TMEM216 Eleanor Williams reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TMEM138 Eleanor Williams reviewed gene: TMEM138: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TCTN3 Eleanor Williams reviewed gene: TCTN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TCTN1 Eleanor Williams reviewed gene: TCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SPRY1 Eleanor Williams reviewed gene: SPRY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SOX17 Eleanor Williams reviewed gene: SOX17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SMARCA4 Eleanor Williams reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SLIT2 Eleanor Williams reviewed gene: SLIT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SLC19A3 Eleanor Williams reviewed gene: SLC19A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SLC19A2 Eleanor Williams reviewed gene: SLC19A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SIX1 Eleanor Williams reviewed gene: SIX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SHH Eleanor Williams reviewed gene: SHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SEC63 Eleanor Williams reviewed gene: SEC63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SDCCAG8 Eleanor Williams reviewed gene: SDCCAG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ROBO2 Eleanor Williams reviewed gene: ROBO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PTPRO Eleanor Williams reviewed gene: PTPRO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PRKCSH Eleanor Williams reviewed gene: PRKCSH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PMM2 Eleanor Williams reviewed gene: PMM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PDSS2 Eleanor Williams reviewed gene: PDSS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 OCRL Eleanor Williams reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NEK8 Eleanor Williams reviewed gene: NEK8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MYH11 Eleanor Williams reviewed gene: MYH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MTRR Eleanor Williams reviewed gene: MTRR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MTR Eleanor Williams reviewed gene: MTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MKS1 Eleanor Williams reviewed gene: MKS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 KIT Eleanor Williams reviewed gene: KIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 KIF7 Eleanor Williams reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 KANK2 Eleanor Williams reviewed gene: KANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ITGB4 Eleanor Williams reviewed gene: ITGB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 IQCB1 Eleanor Williams reviewed gene: IQCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 INPP5E Eleanor Williams reviewed gene: INPP5E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 HCN3 Eleanor Williams reviewed gene: HCN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GREM1 Eleanor Williams reviewed gene: GREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GLIS2 Eleanor Williams reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GLA Eleanor Williams reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GIF Eleanor Williams reviewed gene: GIF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GDNF Eleanor Williams reviewed gene: GDNF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 FOXC2 Eleanor Williams reviewed gene: FOXC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 FOXC1 Eleanor Williams reviewed gene: FOXC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 E2F3 Eleanor Williams reviewed gene: E2F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DLG3 Eleanor Williams reviewed gene: DLG3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DHFR Eleanor Williams reviewed gene: DHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DACT1 Eleanor Williams reviewed gene: DACT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CYP11B2 Eleanor Williams reviewed gene: CYP11B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COX10 Eleanor Williams reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COL4A6 Eleanor Williams reviewed gene: COL4A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CHRM3 Eleanor Williams reviewed gene: CHRM3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CHD1L Eleanor Williams reviewed gene: CHD1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CFHR5 Eleanor Williams reviewed gene: CFHR5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CEP41 Eleanor Williams reviewed gene: CEP41: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CD2AP Eleanor Williams reviewed gene: CD2AP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CD151 Eleanor Williams reviewed gene: CD151: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CCDC28B Eleanor Williams reviewed gene: CCDC28B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CC2D2A Eleanor Williams reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 C5orf42 Eleanor Williams reviewed gene: C5orf42: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BSND Eleanor Williams reviewed gene: BSND: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BMP4 Eleanor Williams reviewed gene: BMP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BICC1 Eleanor Williams reviewed gene: BICC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS9 Eleanor Williams reviewed gene: BBS9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS5 Eleanor Williams reviewed gene: BBS5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS4 Eleanor Williams reviewed gene: BBS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS2 Eleanor Williams reviewed gene: BBS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS12 Eleanor Williams reviewed gene: BBS12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS10 Eleanor Williams reviewed gene: BBS10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BBS1 Eleanor Williams reviewed gene: BBS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ARL6 Eleanor Williams reviewed gene: ARL6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ARL13B Eleanor Williams reviewed gene: ARL13B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ARHGAP24 Eleanor Williams reviewed gene: ARHGAP24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 APOL1 Eleanor Williams reviewed gene: APOL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ALMS1 Eleanor Williams reviewed gene: ALMS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ALG1 Eleanor Williams reviewed gene: ALG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 AHI1 Eleanor Williams reviewed gene: AHI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ACTA2 Eleanor Williams reviewed gene: ACTA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CEP290 Eleanor Williams reviewed gene: CEP290: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 BNC2 Eleanor Williams reviewed gene: BNC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 WDR19 Eleanor Williams reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MAPKBP1 Eleanor Williams reviewed gene: MAPKBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CEP83 Eleanor Williams reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 WT1 Eleanor Williams reviewed gene: WT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 VPS33B Eleanor Williams reviewed gene: VPS33B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 VHL Eleanor Williams reviewed gene: VHL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 UMOD Eleanor Williams reviewed gene: UMOD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TTC21B Eleanor Williams reviewed gene: TTC21B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TSC2 Eleanor Williams reviewed gene: TSC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TSC1 Eleanor Williams reviewed gene: TSC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TRPC6 Eleanor Williams reviewed gene: TRPC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TRAP1 Eleanor Williams reviewed gene: TRAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TMEM67 Eleanor Williams reviewed gene: TMEM67: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 TBX18 Eleanor Williams reviewed gene: TBX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SMARCAL1 Eleanor Williams reviewed gene: SMARCAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SIX5 Eleanor Williams reviewed gene: SIX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SGPL1 Eleanor Williams reviewed gene: SGPL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SCARB2 Eleanor Williams reviewed gene: SCARB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 SALL1 Eleanor Williams reviewed gene: SALL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 RRM2B Eleanor Williams reviewed gene: RRM2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 RPGRIP1L Eleanor Williams reviewed gene: RPGRIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 RET Eleanor Williams reviewed gene: RET: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 REN Eleanor Williams reviewed gene: REN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PLCE1 Eleanor Williams reviewed gene: PLCE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PKHD1 Eleanor Williams reviewed gene: PKHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PKD2 Eleanor Williams reviewed gene: PKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PKD1 Eleanor Williams reviewed gene: PKD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PBX1 Eleanor Williams reviewed gene: PBX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 PAX2 Eleanor Williams reviewed gene: PAX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 OFD1 Eleanor Williams reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NUP93 Eleanor Williams reviewed gene: NUP93: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NUP107 Eleanor Williams reviewed gene: NUP107: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NPHS2 Eleanor Williams reviewed gene: NPHS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NPHS1 Eleanor Williams reviewed gene: NPHS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NPHP4 Eleanor Williams reviewed gene: NPHP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NPHP3 Eleanor Williams reviewed gene: NPHP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 NPHP1 Eleanor Williams reviewed gene: NPHP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MYO1E Eleanor Williams reviewed gene: MYO1E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MYH9 Eleanor Williams reviewed gene: MYH9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 MUC1 Eleanor Williams reviewed gene: MUC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 LRIG2 Eleanor Williams reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 LMX1B Eleanor Williams reviewed gene: LMX1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 LAMB2 Eleanor Williams reviewed gene: LAMB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 KYNU Eleanor Williams reviewed gene: KYNU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ITGA8 Eleanor Williams reviewed gene: ITGA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ITGA3 Eleanor Williams reviewed gene: ITGA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 INVS Eleanor Williams reviewed gene: INVS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 INF2 Eleanor Williams reviewed gene: INF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 HPSE2 Eleanor Williams reviewed gene: HPSE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 HNF1B Eleanor Williams reviewed gene: HNF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 HAAO Eleanor Williams reviewed gene: HAAO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GRIP1 Eleanor Williams reviewed gene: GRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GLI3 Eleanor Williams reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GATA3 Eleanor Williams reviewed gene: GATA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 GANAB Eleanor Williams reviewed gene: GANAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 FREM2 Eleanor Williams reviewed gene: FREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 FREM1 Eleanor Williams reviewed gene: FREM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 FRAS1 Eleanor Williams reviewed gene: FRAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 EYA1 Eleanor Williams reviewed gene: EYA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DZIP1L Eleanor Williams reviewed gene: DZIP1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DSTYK Eleanor Williams reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DNAJB11 Eleanor Williams reviewed gene: DNAJB11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 DGKE Eleanor Williams reviewed gene: DGKE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CUBN Eleanor Williams reviewed gene: CUBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CTNS Eleanor Williams reviewed gene: CTNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COQ8B Eleanor Williams reviewed gene: COQ8B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COQ6 Eleanor Williams reviewed gene: COQ6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COQ2 Eleanor Williams reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COL4A5 Eleanor Williams reviewed gene: COL4A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COL4A4 Eleanor Williams reviewed gene: COL4A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COL4A3 Eleanor Williams reviewed gene: COL4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 COL4A1 Eleanor Williams reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CLCN5 Eleanor Williams reviewed gene: CLCN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CHD7 Eleanor Williams reviewed gene: CHD7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CFI Eleanor Williams reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CFH Eleanor Williams reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CFB Eleanor Williams reviewed gene: CFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CEP164 Eleanor Williams reviewed gene: CEP164: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 CD46 Eleanor Williams reviewed gene: CD46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 C3 Eleanor Williams reviewed gene: C3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ARHGDIA Eleanor Williams reviewed gene: ARHGDIA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ANOS1 Eleanor Williams reviewed gene: ANOS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ANKS6 Eleanor Williams reviewed gene: ANKS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 AMN Eleanor Williams reviewed gene: AMN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 AGTR1 Eleanor Williams reviewed gene: AGTR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 AGT Eleanor Williams reviewed gene: AGT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ACTN4 Eleanor Williams reviewed gene: ACTN4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ACTG2 Eleanor Williams reviewed gene: ACTG2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.2 ACE Eleanor Williams reviewed gene: ACE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Unexplained young onset end-stage renal disease v0.1 ISCA-37432-Loss Eleanor Williams Region: ISCA-37432-Loss was added
Region: ISCA-37432-Loss was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37432-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37432-Loss were set to Schizophrenia; Renal cysts and diabetes syndrome; delayed development, intellectual disability; Autism Spectrum Disorder; Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females; global developmental delay; 614527; RCAD syndrome; Chromosome 17q12 deletion syndrome; utero-vaginal atresia
Unexplained young onset end-stage renal disease v0.1 ISCA-37405-Loss Eleanor Williams Region: ISCA-37405-Loss was added
Region: ISCA-37405-Loss was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37405-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37405-Loss were set to 9856524; 8852662; 15138899
Phenotypes for Region: ISCA-37405-Loss were set to 609583; 266900; juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities
Unexplained young onset end-stage renal disease v0.1 ISCA-37401-Loss Eleanor Williams Region: ISCA-37401-Loss was added
Region: ISCA-37401-Loss was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for Region: ISCA-37401-Loss were set to 194072; Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome
Unexplained young onset end-stage renal disease v0.1 ZNF423 Eleanor Williams gene: ZNF423 was added
gene: ZNF423 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ZNF423 was set to Unknown
Phenotypes for gene: ZNF423 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 ZMPSTE24 Eleanor Williams gene: ZMPSTE24 was added
gene: ZMPSTE24 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ZMPSTE24 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 XPNPEP3 Eleanor Williams gene: XPNPEP3 was added
gene: XPNPEP3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: XPNPEP3 was set to Unknown
Phenotypes for gene: XPNPEP3 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 WDPCP Eleanor Williams gene: WDPCP was added
gene: WDPCP was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: WDPCP was set to Unknown
Phenotypes for gene: WDPCP were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 VIPAS39 Eleanor Williams gene: VIPAS39 was added
gene: VIPAS39 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, 613404
Unexplained young onset end-stage renal disease v0.1 UPK3A Eleanor Williams gene: UPK3A was added
gene: UPK3A was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: UPK3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: UPK3A were set to Renal Adysplasia
Unexplained young onset end-stage renal disease v0.1 UPK2 Eleanor Williams gene: UPK2 was added
gene: UPK2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: UPK2 was set to Other - please specifiy in evaluation comments
Unexplained young onset end-stage renal disease v0.1 TTC8 Eleanor Williams gene: TTC8 was added
gene: TTC8 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TTC8 was set to Unknown
Phenotypes for gene: TTC8 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TSHZ3 Eleanor Williams gene: TSHZ3 was added
gene: TSHZ3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Unexplained young onset end-stage renal disease v0.1 TRIM32 Eleanor Williams gene: TRIM32 was added
gene: TRIM32 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TRIM32 was set to Unknown
Phenotypes for gene: TRIM32 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TNXB Eleanor Williams gene: TNXB was added
gene: TNXB was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TNXB was set to Unknown
Unexplained young onset end-stage renal disease v0.1 TMEM237 Eleanor Williams gene: TMEM237 was added
gene: TMEM237 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM237 was set to Unknown
Phenotypes for gene: TMEM237 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TMEM231 Eleanor Williams gene: TMEM231 was added
gene: TMEM231 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM231 was set to Unknown
Phenotypes for gene: TMEM231 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TMEM216 Eleanor Williams gene: TMEM216 was added
gene: TMEM216 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM216 was set to Unknown
Phenotypes for gene: TMEM216 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TMEM138 Eleanor Williams gene: TMEM138 was added
gene: TMEM138 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TMEM138 was set to Unknown
Phenotypes for gene: TMEM138 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TCTN3 Eleanor Williams gene: TCTN3 was added
gene: TCTN3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN3 was set to Unknown
Phenotypes for gene: TCTN3 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TCTN1 Eleanor Williams gene: TCTN1 was added
gene: TCTN1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: TCTN1 was set to Unknown
Phenotypes for gene: TCTN1 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 SPRY1 Eleanor Williams gene: SPRY1 was added
gene: SPRY1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SPRY1 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 SOX17 Eleanor Williams gene: SOX17 was added
gene: SOX17 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SOX17 was set to Unknown
Phenotypes for gene: SOX17 were set to Vesicoureteral reflux 3, 613674
Unexplained young onset end-stage renal disease v0.1 SMARCA4 Eleanor Williams gene: SMARCA4 was added
gene: SMARCA4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SMARCA4 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 SLIT2 Eleanor Williams gene: SLIT2 was added
gene: SLIT2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SLIT2 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 SLC19A3 Eleanor Williams gene: SLC19A3 was added
gene: SLC19A3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC19A3 was set to Unknown
Phenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive; (originally on the Imerslund-Grasbeck syndrome gene panel)
Unexplained young onset end-stage renal disease v0.1 SLC19A2 Eleanor Williams gene: SLC19A2 was added
gene: SLC19A2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC19A2 were set to (originally on the Imerslund-Grasbeck syndrome gene panel); Thiamine-Responsive Megaloblastic Anemia; Thiamine-responsive megaloblastic anemia syndrome, 249270
Unexplained young onset end-stage renal disease v0.1 SIX1 Eleanor Williams gene: SIX1 was added
gene: SIX1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SIX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SIX1 were set to Branchiootorenal Spectrum Disorders
Unexplained young onset end-stage renal disease v0.1 SHH Eleanor Williams gene: SHH was added
gene: SHH was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SHH was set to Unknown
Unexplained young onset end-stage renal disease v0.1 SEC63 Eleanor Williams gene: SEC63 was added
gene: SEC63 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SEC63 was set to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.1 SDCCAG8 Eleanor Williams gene: SDCCAG8 was added
gene: SDCCAG8 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: SDCCAG8 was set to Unknown
Phenotypes for gene: SDCCAG8 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 ROBO2 Eleanor Williams gene: ROBO2 was added
gene: ROBO2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ROBO2 were set to Vesicoureteral Reflux; Vesicoureteral reflux 2, 610878
Unexplained young onset end-stage renal disease v0.1 PTPRO Eleanor Williams gene: PTPRO was added
gene: PTPRO was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: PTPRO was set to Unknown
Unexplained young onset end-stage renal disease v0.1 PRKCSH Eleanor Williams gene: PRKCSH was added
gene: PRKCSH was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: PRKCSH was set to BIALLELIC, autosomal or pseudoautosomal
Unexplained young onset end-stage renal disease v0.1 PMM2 Eleanor Williams gene: PMM2 was added
gene: PMM2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: PMM2 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 PDSS2 Eleanor Williams gene: PDSS2 was added
gene: PDSS2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: PDSS2 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 OCRL Eleanor Williams gene: OCRL was added
gene: OCRL was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Unexplained young onset end-stage renal disease v0.1 NEK8 Eleanor Williams gene: NEK8 was added
gene: NEK8 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NEK8 were set to Ciliopathy genes associated with cystic kidney disease; ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415
Unexplained young onset end-stage renal disease v0.1 MYH11 Eleanor Williams gene: MYH11 was added
gene: MYH11 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: MYH11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MYH11 were set to Megacystis-microcolon-intestinal hypoperistalsis syndrome
Unexplained young onset end-stage renal disease v0.1 MTRR Eleanor Williams gene: MTRR was added
gene: MTRR was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: MTRR was set to Unknown
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type, 236270; (originally on the Imerslund-Grasbeck syndrome gene panel)
Unexplained young onset end-stage renal disease v0.1 MTR Eleanor Williams gene: MTR was added
gene: MTR was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: MTR was set to Unknown
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type, 250940; {Neural tube defects, folate-sensitive, susceptibility to}, 601634; (originally on the Imerslund-Grasbeck syndrome gene panel)
Unexplained young onset end-stage renal disease v0.1 MKS1 Eleanor Williams gene: MKS1 was added
gene: MKS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: MKS1 was set to Unknown
Phenotypes for gene: MKS1 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 KIT Eleanor Williams gene: KIT was added
gene: KIT was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: KIT was set to Unknown
Unexplained young onset end-stage renal disease v0.1 KIF7 Eleanor Williams gene: KIF7 was added
gene: KIF7 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: KIF7 was set to Unknown
Phenotypes for gene: KIF7 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 KANK2 Eleanor Williams gene: KANK2 was added
gene: KANK2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: KANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KANK2 were set to J Clin Invest. 2015; 125(6):2375 2384
Phenotypes for gene: KANK2 were set to Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome
Unexplained young onset end-stage renal disease v0.1 ITGB4 Eleanor Williams gene: ITGB4 was added
gene: ITGB4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ITGB4 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 IQCB1 Eleanor Williams gene: IQCB1 was added
gene: IQCB1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: IQCB1 was set to Unknown
Phenotypes for gene: IQCB1 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 INPP5E Eleanor Williams gene: INPP5E was added
gene: INPP5E was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: INPP5E was set to Unknown
Phenotypes for gene: INPP5E were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 HCN3 Eleanor Williams gene: HCN3 was added
gene: HCN3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: HCN3 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 GREM1 Eleanor Williams gene: GREM1 was added
gene: GREM1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: GREM1 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 GLIS2 Eleanor Williams gene: GLIS2 was added
gene: GLIS2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: GLIS2 was set to Unknown
Phenotypes for gene: GLIS2 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 GLA Eleanor Williams gene: GLA was added
gene: GLA was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Unexplained young onset end-stage renal disease v0.1 GIF Eleanor Williams gene: GIF was added
gene: GIF was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: GIF was set to Unknown
Phenotypes for gene: GIF were set to GIF mutations may phenocopy this disorder; (originally on the Imerslund-Grasbeck syndrome gene panel)
Unexplained young onset end-stage renal disease v0.1 GDNF Eleanor Williams gene: GDNF was added
gene: GDNF was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: GDNF was set to Unknown
Unexplained young onset end-stage renal disease v0.1 FOXC2 Eleanor Williams gene: FOXC2 was added
gene: FOXC2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: FOXC2 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 FOXC1 Eleanor Williams gene: FOXC1 was added
gene: FOXC1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: FOXC1 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 E2F3 Eleanor Williams gene: E2F3 was added
gene: E2F3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: E2F3 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 DLG3 Eleanor Williams gene: DLG3 was added
gene: DLG3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: DLG3 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 DHFR Eleanor Williams gene: DHFR was added
gene: DHFR was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: DHFR was set to Unknown
Phenotypes for gene: DHFR were set to Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; (originally on the Imerslund-Grasbeck syndrome gene panel)
Unexplained young onset end-stage renal disease v0.1 DACT1 Eleanor Williams gene: DACT1 was added
gene: DACT1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: DACT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DACT1 were set to 28054444; 19701191; 22610794
Phenotypes for gene: DACT1 were set to ?Townes-Brocks syndrome 2,617466; TBS2
Unexplained young onset end-stage renal disease v0.1 CYP11B2 Eleanor Williams gene: CYP11B2 was added
gene: CYP11B2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CYP11B2 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 COX10 Eleanor Williams gene: COX10 was added
gene: COX10 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: COX10 was set to Unknown
Phenotypes for gene: COX10 were set to Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency
Unexplained young onset end-stage renal disease v0.1 COL4A6 Eleanor Williams gene: COL4A6 was added
gene: COL4A6 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: COL4A6 was set to Unknown
Phenotypes for gene: COL4A6 were set to (originally on Alport syndrome gene panel); diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5; diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4); Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4)
Unexplained young onset end-stage renal disease v0.1 CHRM3 Eleanor Williams gene: CHRM3 was added
gene: CHRM3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CHRM3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHRM3 were set to Weber S, Thiele H, Mir S, Toliat MR, Sozeri B, Reutter H, Draaken M, Ludwig M, Altm ller J, Frommolt P, Stuart HM, Ranjzad P, Hanley NA, Jennings R, Newman WG, Wilcox DT, Thiel U, Schlingmann K-P, Beetz R, Hoyer PF, Konrad M, Schaefer F, N rnberg P, Woolf AS. Muscarinic acetylcholine receptor M3 mutation causes urinary bladder disease and a prune-belly-like syndrome. Am J Hum Genet 89:668-674, 2011.
Phenotypes for gene: CHRM3 were set to Low pressure congenital megabladder; Prune Belly-Like Syndrome
Unexplained young onset end-stage renal disease v0.1 CHD1L Eleanor Williams gene: CHD1L was added
gene: CHD1L was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CHD1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHD1L were set to 24429398; 22146311
Phenotypes for gene: CHD1L were set to ORPHA93545; Renal or urinary tract malformation (CAKUT)
Unexplained young onset end-stage renal disease v0.1 CFHR5 Eleanor Williams gene: CFHR5 was added
gene: CFHR5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CFHR5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CFHR5 were set to PubMed: 20800271; 24067434
Phenotypes for gene: CFHR5 were set to Haematuria; macroscopic haematuria; kidney failure; C3 glomerulopathy
Unexplained young onset end-stage renal disease v0.1 CEP41 Eleanor Williams gene: CEP41 was added
gene: CEP41 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CEP41 was set to Unknown
Phenotypes for gene: CEP41 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 CD2AP Eleanor Williams gene: CD2AP was added
gene: CD2AP was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CD2AP was set to Unknown
Unexplained young onset end-stage renal disease v0.1 CD151 Eleanor Williams gene: CD151 was added
gene: CD151 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CD151 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 CCDC28B Eleanor Williams gene: CCDC28B was added
gene: CCDC28B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CCDC28B was set to Unknown
Phenotypes for gene: CCDC28B were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 CC2D2A Eleanor Williams gene: CC2D2A was added
gene: CC2D2A was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: CC2D2A was set to Unknown
Phenotypes for gene: CC2D2A were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 C5orf42 Eleanor Williams gene: C5orf42 was added
gene: C5orf42 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: C5orf42 was set to Unknown
Phenotypes for gene: C5orf42 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BSND Eleanor Williams gene: BSND was added
gene: BSND was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BSND were set to Bartter syndrome, type 4a, 602522; Sensorineural deafness with mild renal dysfunction, 602522
Unexplained young onset end-stage renal disease v0.1 BMP4 Eleanor Williams gene: BMP4 was added
gene: BMP4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BMP4 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 BICC1 Eleanor Williams gene: BICC1 was added
gene: BICC1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BICC1 was set to Unknown
Phenotypes for gene: BICC1 were set to {Renal dysplasia, cystic, susceptibility to}, 601331
Unexplained young onset end-stage renal disease v0.1 BBS9 Eleanor Williams gene: BBS9 was added
gene: BBS9 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS9 was set to Unknown
Phenotypes for gene: BBS9 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS5 Eleanor Williams gene: BBS5 was added
gene: BBS5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS5 was set to Unknown
Phenotypes for gene: BBS5 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS4 Eleanor Williams gene: BBS4 was added
gene: BBS4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS4 was set to Unknown
Phenotypes for gene: BBS4 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS2 Eleanor Williams gene: BBS2 was added
gene: BBS2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS2 was set to Unknown
Phenotypes for gene: BBS2 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS12 Eleanor Williams gene: BBS12 was added
gene: BBS12 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS12 was set to Unknown
Phenotypes for gene: BBS12 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS10 Eleanor Williams gene: BBS10 was added
gene: BBS10 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS10 was set to Unknown
Phenotypes for gene: BBS10 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BBS1 Eleanor Williams gene: BBS1 was added
gene: BBS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: BBS1 was set to Unknown
Phenotypes for gene: BBS1 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 ARL6 Eleanor Williams gene: ARL6 was added
gene: ARL6 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ARL6 was set to Unknown
Phenotypes for gene: ARL6 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 ARL13B Eleanor Williams gene: ARL13B was added
gene: ARL13B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ARL13B was set to Unknown
Phenotypes for gene: ARL13B were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 ARHGAP24 Eleanor Williams gene: ARHGAP24 was added
gene: ARHGAP24 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ARHGAP24 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 APOL1 Eleanor Williams gene: APOL1 was added
gene: APOL1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: APOL1 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 ALMS1 Eleanor Williams gene: ALMS1 was added
gene: ALMS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ALMS1 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 ALG1 Eleanor Williams gene: ALG1 was added
gene: ALG1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ALG1 was set to Unknown
Unexplained young onset end-stage renal disease v0.1 AHI1 Eleanor Williams gene: AHI1 was added
gene: AHI1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome-3 608629
Unexplained young onset end-stage renal disease v0.1 ACTA2 Eleanor Williams gene: ACTA2 was added
gene: ACTA2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Red
Mode of inheritance for gene: ACTA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ACTA2 were set to Multi system smooth muscle dysfunction
Unexplained young onset end-stage renal disease v0.1 CEP290 Eleanor Williams gene: CEP290 was added
gene: CEP290 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Amber
Mode of inheritance for gene: CEP290 was set to Unknown
Phenotypes for gene: CEP290 were set to Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 BNC2 Eleanor Williams gene: BNC2 was added
gene: BNC2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Other,Expert Review Amber
Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: BNC2 were set to Posterior urethral valves; PUV
Mode of pathogenicity for gene: BNC2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Unexplained young onset end-stage renal disease v0.1 WDR19 Eleanor Williams gene: WDR19 was added
gene: WDR19 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: WDR19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR19 were set to 24504730, 25726036, 23683095, 22019273
Phenotypes for gene: WDR19 were set to Nephronophthisis 13; Ciliopathy genes associated with cystic kidney disease; Senior-Loken
Unexplained young onset end-stage renal disease v0.1 MAPKBP1 Eleanor Williams gene: MAPKBP1 was added
gene: MAPKBP1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKBP1 were set to 28089251
Phenotypes for gene: MAPKBP1 were set to NEPHRONOPHTHISIS 20
Unexplained young onset end-stage renal disease v0.1 CEP83 Eleanor Williams gene: CEP83 was added
gene: CEP83 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706
Phenotypes for gene: CEP83 were set to NEPHRONOPHTHISIS 18
Unexplained young onset end-stage renal disease v0.1 WT1 Eleanor Williams gene: WT1 was added
gene: WT1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: WT1 were set to Nephrotic syndrome, type 4 256370
Unexplained young onset end-stage renal disease v0.1 VPS33B Eleanor Williams gene: VPS33B was added
gene: VPS33B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS33B were set to Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome; Arthrogryposis, renal dysfunction, and cholestasis 1; Arthrogryposis, renal dysfunction, and cholestasis 1, 208085; Arthrogryposis, renal dysfunction, and cholestasis
Unexplained young onset end-stage renal disease v0.1 VHL Eleanor Williams gene: VHL was added
gene: VHL was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome 193300
Unexplained young onset end-stage renal disease v0.1 UMOD Eleanor Williams gene: UMOD was added
gene: UMOD was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: UMOD were set to Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886; Uromodulin-associated kidney disease; Hyperuricemic nephropathy, familial juvenile 1 162000; Medullary cystic kidney disease 2 603860; Medullary Cystic Kidney Disease 2; Hyperuricemic nephropathy, familial juvenile 1, 162000
Unexplained young onset end-stage renal disease v0.1 TTC21B Eleanor Williams gene: TTC21B was added
gene: TTC21B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TTC21B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC21B were set to Nephronophthisis 12 613820; Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 TSC2 Eleanor Williams gene: TSC2 was added
gene: TSC2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TSC2 were set to Tuberous sclerosis-2 613254
Unexplained young onset end-stage renal disease v0.1 TSC1 Eleanor Williams gene: TSC1 was added
gene: TSC1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSC1 were set to 9242607
Phenotypes for gene: TSC1 were set to Tuberous sclerosis-1 191100
Unexplained young onset end-stage renal disease v0.1 TRPC6 Eleanor Williams gene: TRPC6 was added
gene: TRPC6 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TRPC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: TRPC6 were set to Glomerulosclerosis, focal segmental, 2 603965
Unexplained young onset end-stage renal disease v0.1 TRAP1 Eleanor Williams gene: TRAP1 was added
gene: TRAP1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAP1 were set to 24152966
Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL 192350
Unexplained young onset end-stage renal disease v0.1 TMEM67 Eleanor Williams gene: TMEM67 was added
gene: TMEM67 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM67 were set to {Bardet-Biedl syndrome 14, modifier of}; 613550
Phenotypes for gene: TMEM67 were set to Joubert syndrome 6 610688; Nephronophthisis 11 613550; Meckel syndrome 3 607361; Ciliopathy genes associated with cystic kidney disease; {Bardet-Biedl syndrome 14, modifier of} 615991; COACH syndrome 216360
Unexplained young onset end-stage renal disease v0.1 TBX18 Eleanor Williams gene: TBX18 was added
gene: TBX18 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBX18 were set to Congenital anomalies of kidney and urinary tract 2 143400
Unexplained young onset end-stage renal disease v0.1 SMARCAL1 Eleanor Williams gene: SMARCAL1 was added
gene: SMARCAL1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia 242900
Unexplained young onset end-stage renal disease v0.1 SIX5 Eleanor Williams gene: SIX5 was added
gene: SIX5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: SIX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SIX5 were set to Branchiootorenal syndrome 2, 610896
Unexplained young onset end-stage renal disease v0.1 SGPL1 Eleanor Williams gene: SGPL1 was added
gene: SGPL1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SGPL1 were set to 28165343; 28165339; 28181337
Phenotypes for gene: SGPL1 were set to Nephrotic syndrome 14 617575
Unexplained young onset end-stage renal disease v0.1 SCARB2 Eleanor Williams gene: SCARB2 was added
gene: SCARB2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: SCARB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SCARB2 were set to Epilepsy, progressive myoclonic 4, with or without renal failure 254900
Unexplained young onset end-stage renal disease v0.1 SALL1 Eleanor Williams gene: SALL1 was added
gene: SALL1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: SALL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SALL1 were set to imperforate anus, ear abnormalities, thumb abnormalities; Townes-Brocks branchiootorenal-like syndrome, 107480; Townes-Brocks syndrome, 107480
Unexplained young onset end-stage renal disease v0.1 RRM2B Eleanor Williams gene: RRM2B was added
gene: RRM2B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RRM2B were set to Mitochondrial DNA depletion syndrome 8B (MNGIE type) 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) 612075
Unexplained young onset end-stage renal disease v0.1 RPGRIP1L Eleanor Williams gene: RPGRIP1L was added
gene: RPGRIP1L was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RPGRIP1L were set to Meckel syndrome 5 611561; Ciliopathy genes associated with cystic kidney disease; COACH syndrome 216360; Joubert syndrome 7 611560
Unexplained young onset end-stage renal disease v0.1 RET Eleanor Williams gene: RET was added
gene: RET was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: RET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, 162300; Central hypoventilation syndrome, congenital, 209880; Multiple endocrine neoplasia IIA, 171400; Renal agenesis, 191830; {Hirschsprung disease, susceptibility to, 1}, 142623; Pheochromocytoma, 171300; Renal Adysplasia; Medullary thyroid carcinoma, 155240
Unexplained young onset end-stage renal disease v0.1 REN Eleanor Williams gene: REN was added
gene: REN was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: REN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: REN were set to Renal Tubular Dysgenesis; Renal tubular dysgenesis 267430; [Hyperproreninemia]; Hyperuricemic nephropathy, familial juvenile 2613092
Unexplained young onset end-stage renal disease v0.1 PLCE1 Eleanor Williams gene: PLCE1 was added
gene: PLCE1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PLCE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLCE1 were set to Nephrotic syndrome, type 3 610725
Unexplained young onset end-stage renal disease v0.1 PKHD1 Eleanor Williams gene: PKHD1 was added
gene: PKHD1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PKHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PKHD1 were set to Polycystic Kidney Disease, Autosomal Recessive; Polycystic kidney and hepatic disease, 263200; Autosomal Recessive Polycystic Kidney Disease
Unexplained young onset end-stage renal disease v0.1 PKD2 Eleanor Williams gene: PKD2 was added
gene: PKD2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PKD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKD2 were set to 23431072; 21719175; 22114106; 28356211; 18635443
Phenotypes for gene: PKD2 were set to Autosomal Dominant Polycystic Kidney Disease; Polycystic Kidney Disease, Autosomal Dominant; Polycystic kidney disease 2, 613095
Unexplained young onset end-stage renal disease v0.1 PKD1 Eleanor Williams gene: PKD1 was added
gene: PKD1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PKD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: PKD1 were set to 19165178; 22034641; 20558538
Phenotypes for gene: PKD1 were set to Polycystic kidney disease, adult type I, 173900
Unexplained young onset end-stage renal disease v0.1 PBX1 Eleanor Williams gene: PBX1 was added
gene: PBX1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PBX1 were set to 28270404; 28566479
Phenotypes for gene: PBX1 were set to CAKUT
Unexplained young onset end-stage renal disease v0.1 PAX2 Eleanor Williams gene: PAX2 was added
gene: PAX2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PAX2 were set to Papillorenal syndrome, 120330; RENAL-COLOBOMA SYNDROME; Papillorenal syndrome; Glomerulosclerosis, focal segmental, 7; Glomerulosclerosis, focal segmental, 7 616002
Unexplained young onset end-stage renal disease v0.1 OFD1 Eleanor Williams gene: OFD1 was added
gene: OFD1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: OFD1 were set to 16783569; 15221448; 11179005
Phenotypes for gene: OFD1 were set to Joubert syndrome 10 300804; Simpson-Golabi-Behmel syndrome, type 2 300209 XLR
Unexplained young onset end-stage renal disease v0.1 NUP93 Eleanor Williams gene: NUP93 was added
gene: NUP93 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP93 were set to 26878725
Phenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12 616892
Unexplained young onset end-stage renal disease v0.1 NUP107 Eleanor Williams gene: NUP107 was added
gene: NUP107 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP107 were set to 26411495
Phenotypes for gene: NUP107 were set to Nephrotic syndrome, type 11 616730
Unexplained young onset end-stage renal disease v0.1 NPHS2 Eleanor Williams gene: NPHS2 was added
gene: NPHS2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS2 were set to Nephrotic syndrome, type 2 600995
Unexplained young onset end-stage renal disease v0.1 NPHS1 Eleanor Williams gene: NPHS1 was added
gene: NPHS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1 256300
Unexplained young onset end-stage renal disease v0.1 NPHP4 Eleanor Williams gene: NPHP4 was added
gene: NPHP4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4 606996; Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 4 606966
Unexplained young onset end-stage renal disease v0.1 NPHP3 Eleanor Williams gene: NPHP3 was added
gene: NPHP3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010; Renal-Hepatic-Pancreatic Dysplasia; Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 3, 604387; Renal-hepatic-pancreatic dysplasia 1, 208540
Unexplained young onset end-stage renal disease v0.1 NPHP1 Eleanor Williams gene: NPHP1 was added
gene: NPHP1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHP1 were set to 266900
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4 609583; Ciliopathy genes associated with cystic kidney disease; Senior-Loken syndrome-1 266900; Nephronophthisis 1, juvenile 256100
Unexplained young onset end-stage renal disease v0.1 MYO1E Eleanor Williams gene: MYO1E was added
gene: MYO1E was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: MYO1E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYO1E were set to 23595123
Phenotypes for gene: MYO1E were set to Glomerulosclerosis, focal segmental, 6 614131
Unexplained young onset end-stage renal disease v0.1 MYH9 Eleanor Williams gene: MYH9 was added
gene: MYH9 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: MYH9 were set to Epstein syndrome 153650; Fechtner syndrome 153640
Unexplained young onset end-stage renal disease v0.1 MUC1 Eleanor Williams gene: MUC1 was added
gene: MUC1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: MUC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MUC1 were set to 25738250; 24670410; 23396133; 27157321
Phenotypes for gene: MUC1 were set to Medullary cystic kidney disease 1, 174000; Medullary cystic kidney disease 1
Unexplained young onset end-stage renal disease v0.1 LRIG2 Eleanor Williams gene: LRIG2 was added
gene: LRIG2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRIG2 were set to Stuart HM, Roberts NA, Bergu B, Daly SB, Urquhart JE, Bhaskar S, Dickerson J, Mermerkaya M, Silay MS, Lewis MA, Olondriz BO, Gener B, Beetz C, Varga RE, G lp nar O, S er E, Yal nkaya F, G c k A, Yue WW, Erdogan F, Berry A, Hanley NA, McKenzie EA, Hilton EN, Woolf AS, Newman WG. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet 92:259-264, 2013.
Phenotypes for gene: LRIG2 were set to Urofacial syndrome; Urofacial syndrome 2 615112; Congenital bladder disease: dyssynergic, high pressure bladder.
Unexplained young onset end-stage renal disease v0.1 LMX1B Eleanor Williams gene: LMX1B was added
gene: LMX1B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: LMX1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: LMX1B were set to Nail-patella syndrome 161200
Unexplained young onset end-stage renal disease v0.1 LAMB2 Eleanor Williams gene: LAMB2 was added
gene: LAMB2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LAMB2 were set to Pierson syndrome 609049; Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
Unexplained young onset end-stage renal disease v0.1 KYNU Eleanor Williams gene: KYNU was added
gene: KYNU was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 27604308; 17334708; 28792876
Phenotypes for gene: KYNU were set to ?Hydroxykynureninuria, 236800; multiple congenital malformations; VACTERL-like phenotype; Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism)
Unexplained young onset end-stage renal disease v0.1 ITGA8 Eleanor Williams gene: ITGA8 was added
gene: ITGA8 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, 191830
Unexplained young onset end-stage renal disease v0.1 ITGA3 Eleanor Williams gene: ITGA3 was added
gene: ITGA3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ITGA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ITGA3 were set to Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 614748
Unexplained young onset end-stage renal disease v0.1 INVS Eleanor Williams gene: INVS was added
gene: INVS was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: INVS were set to Nephronophthisis 2, infantile 602088; Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 INF2 Eleanor Williams gene: INF2 was added
gene: INF2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: INF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: INF2 were set to Glomerulosclerosis, focal segmental, 5 613237; Charcot-Marie-Tooth disease, dominant intermediate E 614455
Unexplained young onset end-stage renal disease v0.1 HPSE2 Eleanor Williams gene: HPSE2 was added
gene: HPSE2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPSE2 were set to 20560210; 20560209
Phenotypes for gene: HPSE2 were set to Congenital bladder disease: dyssynergic, high pressure bladder; Urofacial syndrome 1 236730; Urofacial Syndrome
Unexplained young onset end-stage renal disease v0.1 HNF1B Eleanor Williams gene: HNF1B was added
gene: HNF1B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HNF1B were set to 12012276; PMID: 11562418; 15085338
Phenotypes for gene: HNF1B were set to Diabetes mellitus, noninsulin-dependent 125853; {Renal cell carcinoma} 144700; Diabetes mellitus, noninsulin-dependent; Renal cysts and diabetes syndrome; Renal cysts and diabetes syndrome 137920
Unexplained young onset end-stage renal disease v0.1 HAAO Eleanor Williams gene: HAAO was added
gene: HAAO was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 27604308; 17334708; 28792876
Phenotypes for gene: HAAO were set to VACTERL-like phenotype; Multiple congenital malformations
Unexplained young onset end-stage renal disease v0.1 GRIP1 Eleanor Williams gene: GRIP1 was added
gene: GRIP1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: GRIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRIP1 were set to 24700879; 14730302; 24357607; 22510445
Phenotypes for gene: GRIP1 were set to Fraser syndrome 219000; Fraser syndrome; isolated CAKUT
Unexplained young onset end-stage renal disease v0.1 GLI3 Eleanor Williams gene: GLI3 was added
gene: GLI3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GLI3 were set to Pallister-Hall syndrome; Pallister-Hall syndrome 146510
Unexplained young onset end-stage renal disease v0.1 GATA3 Eleanor Williams gene: GATA3 was added
gene: GATA3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255; Hypoparathyroidism, Sensorineural Deafness, and Renal Disease
Unexplained young onset end-stage renal disease v0.1 GANAB Eleanor Williams gene: GANAB was added
gene: GANAB was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GANAB were set to Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Ba ales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audr zet MP, Ferec C, Le Meur Y, Torres VE, Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC. Mutations in GANAB, Encoding the Glucosidase II Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet. 2016 Jun 2; 98(6):1193-207. doi: 10.1016/j.ajhg.2016.05.004. PubMed PMID: 27259053, PubMed Central PMCID: PMC4908191.
Phenotypes for gene: GANAB were set to Mild cystic kidney and liver disease; Polycyctic kidney disease 3
Unexplained young onset end-stage renal disease v0.1 FREM2 Eleanor Williams gene: FREM2 was added
gene: FREM2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: FREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FREM2 were set to Fraser syndrome 219000; Fraser syndrome
Unexplained young onset end-stage renal disease v0.1 FREM1 Eleanor Williams gene: FREM1 was added
gene: FREM1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: FREM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FREM1 were set to PMID: 24700879
Phenotypes for gene: FREM1 were set to Bifid nose with or without anorectal and renal anomalies, 608980
Unexplained young onset end-stage renal disease v0.1 FRAS1 Eleanor Williams gene: FRAS1 was added
gene: FRAS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FRAS1 were set to Fraser syndrome 219000; Fraser syndrome
Unexplained young onset end-stage renal disease v0.1 EYA1 Eleanor Williams gene: EYA1 was added
gene: EYA1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: EYA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EYA1 were set to Branchiootorenal syndrome 1, with or without cataracts, 113650; Otofaciocervical syndrome, 166780; Branchiootic syndrome 1, 602588; Branchiootorenal syndrome 1, with or without cataracts; Branchiootorenal Spectrum Disorders; Anterior segment anomalies with or without cataract, 113650
Unexplained young onset end-stage renal disease v0.1 DZIP1L Eleanor Williams gene: DZIP1L was added
gene: DZIP1L was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DZIP1L were set to 28530676
Phenotypes for gene: DZIP1L were set to ARPKD; Polycystic kidney disease 5 617610
Mode of pathogenicity for gene: DZIP1L was set to Other - please provide details in the comments
Unexplained young onset end-stage renal disease v0.1 DSTYK Eleanor Williams gene: DSTYK was added
gene: DSTYK was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DSTYK were set to Renal hypodysplasia; {Congenital anomalies of kidney and urinary tract, susceptibility to}; CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1; ureteropelvic junction obstruction; {Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805; vesicoureteric reflux
Unexplained young onset end-stage renal disease v0.1 DNAJB11 Eleanor Williams gene: DNAJB11 was added
gene: DNAJB11 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green,Other
Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJB11 were set to 29706351
Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease; Tubulointerstitial kidney disease; cystic kidney disease; non-enlarged kidney; end stage renal failure
Unexplained young onset end-stage renal disease v0.1 DGKE Eleanor Williams gene: DGKE was added
gene: DGKE was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: DGKE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DGKE were set to 23274426; 23542698
Phenotypes for gene: DGKE were set to Nephrotic syndrome, type 7 615008; {Hemolytic uremic syndrome, atypical, susceptibility to, 7} 615008
Unexplained young onset end-stage renal disease v0.1 CUBN Eleanor Williams gene: CUBN was added
gene: CUBN was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUBN were set to 21208123; 21903995; 10080186
Phenotypes for gene: CUBN were set to Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100
Unexplained young onset end-stage renal disease v0.1 CTNS Eleanor Williams gene: CTNS was added
gene: CTNS was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNS were set to 27604308; 19863563; 9537412
Phenotypes for gene: CTNS were set to Cystinosis, atypical nephropathic 219800; Cystinosis, nephropathic 219800; Cystinosis, late-onset juvenile or adolescent nephropathic 219900
Unexplained young onset end-stage renal disease v0.1 COQ8B Eleanor Williams gene: COQ8B was added
gene: COQ8B was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green,Expert Review
Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ8B were set to 24270420
Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9 615573
Unexplained young onset end-stage renal disease v0.1 COQ6 Eleanor Williams gene: COQ6 was added
gene: COQ6 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6 614650
Unexplained young onset end-stage renal disease v0.1 COQ2 Eleanor Williams gene: COQ2 was added
gene: COQ2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: COQ2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ2 were set to Coenzyme Q10 deficiency, primary, 1 301050
Unexplained young onset end-stage renal disease v0.1 COL4A5 Eleanor Williams gene: COL4A5 was added
gene: COL4A5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
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)
Phenotypes for gene: COL4A5 were set to Alport syndrome 301050
Unexplained young onset end-stage renal disease v0.1 COL4A4 Eleanor Williams gene: COL4A4 was added
gene: COL4A4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL4A4 were set to 25381091
Phenotypes for gene: COL4A4 were set to Hematuria,familial benign; Alport syndrome, autosomal recessive, 203780
Unexplained young onset end-stage renal disease v0.1 COL4A3 Eleanor Williams gene: COL4A3 was added
gene: COL4A3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: COL4A3 were set to 25381091
Phenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780; Alport syndrome, autosomal dominant, 104200; Hematuria, benign familial, 141200
Unexplained young onset end-stage renal disease v0.1 COL4A1 Eleanor Williams gene: COL4A1 was added
gene: COL4A1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL4A1 were set to 20818663; 18160688
Phenotypes for gene: COL4A1 were set to raised creatinine kinase; tortuous retinal vessels; intracranial anuerysms; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Exophytic renal cysts; haematuria
Unexplained young onset end-stage renal disease v0.1 CLCN5 Eleanor Williams gene: CLCN5 was added
gene: CLCN5 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: CLCN5 were set to Nephrolithiasis, type I, 310468; Dent disease, 300009; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990; Hypophosphatemic rickets, 300554
Unexplained young onset end-stage renal disease v0.1 CHD7 Eleanor Williams gene: CHD7 was added
gene: CHD7 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: CHD7 were set to CHARGE syndrome 214800
Unexplained young onset end-stage renal disease v0.1 CFI Eleanor Williams gene: CFI was added
gene: CFI was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CFI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CFI were set to 16621965; 15173250
Phenotypes for gene: CFI were set to Hemolytic uremic syndrome, atypical, susceptibility to, 3 612923
Unexplained young onset end-stage renal disease v0.1 CFH Eleanor Williams gene: CFH was added
gene: CFH was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CFH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CFH were set to {Hemolytic uremic syndrome, atypical, susceptibility to, 1} 235400; Complement factor H deficiency 609814
Unexplained young onset end-stage renal disease v0.1 CFB Eleanor Williams gene: CFB was added
gene: CFB was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CFB were set to 17182750; 20108004
Phenotypes for gene: CFB were set to Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924
Unexplained young onset end-stage renal disease v0.1 CEP164 Eleanor Williams gene: CEP164 was added
gene: CEP164 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CEP164 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP164 were set to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 15 614845
Unexplained young onset end-stage renal disease v0.1 CD46 Eleanor Williams gene: CD46 was added
gene: CD46 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: CD46 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CD46 were set to 14566051; 16621965; 14615110
Phenotypes for gene: CD46 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
Unexplained young onset end-stage renal disease v0.1 C3 Eleanor Williams gene: C3 was added
gene: C3 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: C3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: C3 were set to 15781264; 18796626
Phenotypes for gene: C3 were set to C3 deficiency 613779 AR; {Hemolytic uremic syndrome, atypical, susceptibility to, 5} 612925 AD
Unexplained young onset end-stage renal disease v0.1 ARHGDIA Eleanor Williams gene: ARHGDIA was added
gene: ARHGDIA was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ARHGDIA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARHGDIA were set to Nephrotic syndrome, type 8 615244
Unexplained young onset end-stage renal disease v0.1 ANOS1 Eleanor Williams gene: ANOS1 was added
gene: ANOS1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ANOS1 were set to 9719154; 11531922
Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1); Kallman syndrome
Unexplained young onset end-stage renal disease v0.1 ANKS6 Eleanor Williams gene: ANKS6 was added
gene: ANKS6 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANKS6 were set to Nephronophthisis 16 615382; Ciliopathy genes associated with cystic kidney disease
Unexplained young onset end-stage renal disease v0.1 AMN Eleanor Williams gene: AMN was added
gene: AMN was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 12590260
Phenotypes for gene: AMN were set to Megaloblastic anemia-1, Norwegian type 261100
Unexplained young onset end-stage renal disease v0.1 AGTR1 Eleanor Williams gene: AGTR1 was added
gene: AGTR1 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGTR1 were set to Renal Tubular Dysgenesis; Renal tubular dysgenesis, 267430; Hypertension, essential, 145500
Unexplained young onset end-stage renal disease v0.1 AGT Eleanor Williams gene: AGT was added
gene: AGT was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGT were set to Renal Tubular Dysgenesis; {Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430; Renal tubular dysgenesis, 267430
Unexplained young onset end-stage renal disease v0.1 ACTN4 Eleanor Williams gene: ACTN4 was added
gene: ACTN4 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ACTN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN4 were set to 26301083; 16251236; 10700177
Phenotypes for gene: ACTN4 were set to Glomerulosclerosis, focal segmental, 1 603278
Unexplained young onset end-stage renal disease v0.1 ACTG2 Eleanor Williams gene: ACTG2 was added
gene: ACTG2 was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ACTG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTG2 were set to PMID: 25998219
Phenotypes for gene: ACTG2 were set to Berdon syndrome; visceral myopathy; Visceral myopathy (Megacystis-microcolon intestinal hypoperistalsis syndrome, Berdon syndrome) 155310; Megacystis-microcolon intestinal hypoperistalsis syndrome
Unexplained young onset end-stage renal disease v0.1 ACE Eleanor Williams gene: ACE was added
gene: ACE was added to Unexplained paediatric onset end-stage renal disease. Sources: Expert Review Green
Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACE were set to Renal Tubular Dysgenesis; {Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular; Renal Tubular Dysgenesis 267430
Intellectual disability v2.800 ISCA-37468-Loss Louise Daugherty Mode 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 males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Intellectual disability v2.799 ISCA-37468-Loss Louise Daugherty Mode of inheritance for Region: ISCA-37468-Loss was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Unexplained young onset end-stage renal disease v0.0 Eleanor Williams Added Panel Unexplained paediatric onset end-stage renal disease
Set panel types to: GMS Rare Disease Virtual
Inherited white matter disorders v1.64 SNORD118 Louise Daugherty Classified gene: SNORD118 as Green List (high evidence)
Inherited white matter disorders v1.64 SNORD118 Louise Daugherty Gene: snord118 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.63 SNORD118 Louise Daugherty Classified gene: SNORD118 as Green List (high evidence)
Inherited white matter disorders v1.63 SNORD118 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Inherited white matter disorders v1.63 SNORD118 Louise Daugherty Gene: snord118 has been classified as Green List (High Evidence).
Inherited white matter disorders v1.62 SNORD118 Louise Daugherty Phenotypes for gene: SNORD118 were changed from 614561 to 614561; Leukoencephalopathy, brain calcifications and cysts, 614561
Retinal disorders v1.139 MFSD8 Ivone Leong Mode of inheritance for gene: MFSD8 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.138 KIAA1549 Ivone Leong Mode of inheritance for gene: KIAA1549 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.35 P4HTM Konstantinos Varvagiannis gene: P4HTM was added
gene: P4HTM was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 30940925
Phenotypes for gene: P4HTM were set to Central hypotonia; Muscular hypotonia; Global developmental delay; Intellectual disability; Seizures; Abnormality of the eye; Hypoventilation; Sleep apnea; Dysautonomia
Penetrance for gene: P4HTM were set to Complete
Review for gene: P4HTM was set to GREEN
Added comment: Gene added in the ID panel. Epilepsy is a feature of the disorder.
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Rahikkala et al. (2019 - PMID: 30940925) report on 13 individuals from 5 families with biallelic pathogenic P4HTM variants. 6 of these individuals from a large consanguineous family from Finland were previously reported by the same group, although studies at the time had revealed a 11.5 Mb region of homozygosity with 3 genes within this interval considered to be candidate for the patients' phenotype (P4HTM, TKT, USP4) [Kaasinen et al. - PMID: 25078763].

Common features included Hypotonia (13/13), DD and ID (the latter present in 12/13 individuals with appropriate age for evaluation) and Eye Abnormalities, reason why the acronym HIDEA is suggested for the disorder. Epilepsy was observed in 10 individuals (10/13). Hypoventilation, sleep apnea and dysautonomia were additional features reported.

Muscle biopsies from 4 individuals had variable findings suggestive of disruption of normal mitochondrial function.

Finnish patients were homozygous for a SNV - possibly a founder variant in this population - predicted to lead to a missense change in the canonical transcript (NM_177938.2:c.1073G>A) but causing an in-frame loss of the complete exon 6 of another transcript (NM_177939.2).

The latter transcript (encoding a 502 aa protein) is the prevalent one in fibroblasts/myoblasts instead of the canonical one (563 aa). It is not known whether the canonical transcript is the prevalent in brain tissue although northern blot analysis in a previous study suggested presence of a 2.3 kb mRNA in brain instead of a 1.8 kb observed in other tissues, a finding which may be suggestive of expression of the canonical transcript. [Reviewer's note: In gnomAD based on the pext values from the GTEx, the noncanonical transcript appears to be prevalent in brain regions - https://gnomad.broadinstitute.org/gene/ENSG00000178467]

All variants reported affected both transcripts. All 5 variants have been submitted to LOVD ( https://databases.lovd.nl/shared/variants/P4HTM?search_var_status=%3D%22Marked%22%7C%3D%22Public%22 - first author appearing as the submitter).

Overexpression of wt and 3 mutants (His161Pro, Gln352*and Exon6del) in insect cells followed by analysis with SDS-PAGE and western blot revealed severly reduced/abolished fraction of soluble protein for the 3 studied variants suggesting improper protein folding.

Knockout of the gene in mice leads to retinal defects and/or visual impairment in line with eye abnormalites (nystagmus, strabismus, achromic retinal fundi or cortical blindness) being a prominent feature in affected individuals. Mouse studies suggest that this gene is also important for renal function, although kidney problems were not reported in any affected individual.

Overall loss-of-function is suggested to be the underlying mechanism.

P4HTM is not associated with any phenotype in OMIM, nor in G2P. This gene is not (at least commonly) included in gene panels for ID offered by diagnostic laboratories.

As a result P4HTM can be considered for inclusion in the ID and epilepsy panels probably as green (several affected individuals) or amber.
Sources: Literature
Intellectual disability v2.798 P4HTM Konstantinos Varvagiannis gene: P4HTM was added
gene: P4HTM was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 30940925; 25078763
Phenotypes for gene: P4HTM were set to Central hypotonia; Muscular hypotonia; Global developmental delay; Intellectual disability; Seizures; Abnormality of the eye; Hypoventilation; Sleep apnea; Dysautonomia
Penetrance for gene: P4HTM were set to Complete
Review for gene: P4HTM was set to GREEN
Added comment: Rahikkala et al. (2019 - PMID: 30940925) report on 13 individuals from 5 families with biallelic pathogenic P4HTM variants. 6 of these individuals from a large consanguineous family from Finland were previously reported by the same group, although studies at the time had revealed a 11.5 Mb region of homozygosity with 3 genes within this interval considered to be candidate for the patients' phenotype (P4HTM, TKT, USP4) [Kaasinen et al. - PMID: 25078763].

Common features included Hypotonia (13/13), DD and ID (the latter present in 12/13 individuals with appropriate age for evaluation) and Eye Abnormalities, reason why the acronym HIDEA is suggested for the disorder. Epilepsy was observed in 10 individuals (10/13). Hypoventilation, sleep apnea and dysautonomia were additional features reported.

Muscle biopsies from 4 individuals had variable findings suggestive of disruption of normal mitochondrial function.

Finnish patients were homozygous for a SNV - possibly a founder variant in this population - predicted to lead to a missense change in the canonical transcript (NM_177938.2:c.1073G>A) but causing an in-frame loss of the complete exon 6 of another transcript (NM_177939.2).

The latter transcript (encoding a 502 aa protein) is the prevalent one in fibroblasts/myoblasts instead of the canonical one (563 aa). It is not known whether the canonical transcript is the prevalent in brain tissue although northern blot analysis in a previous study suggested presence of a 2.3 kb mRNA in brain instead of a 1.8 kb observed in other tissues, a finding which may be suggestive of expression of the canonical transcript. [Reviewer's note: In gnomAD based on the pext values from the GTEx, the noncanonical transcript appears to be prevalent in brain regions - https://gnomad.broadinstitute.org/gene/ENSG00000178467]

All variants reported in affected both transcripts. All 5 variants have been submitted to LOVD ( https://databases.lovd.nl/shared/variants/P4HTM?search_var_status=%3D%22Marked%22%7C%3D%22Public%22 - the first author appearing as the submitter).

Overexpression of wt and 3 mutants (His161Pro, Gln352*and Exon6del) in insect cells followed by analysis with SDS-PAGE and western blot revealed severly reduced/abolished fraction of soluble protein for the 3 studied variants suggesting improper protein folding.

Knockout of the gene in mice leads to retinal defects and/or visual impairment in line with eye abnormalites (nystagmus, strabismus, achromic retinal fundi or cortical blindness) being a prominent feature in affected individuals. Mouse studies suggest that this gene is also important for renal function, although kidney problems were not reported in any affected individual.

Overall loss-of-function is suggested to be the underlying mechanism.

P4HTM is not associated with any phenotype in OMIM, nor in G2P. This gene is not (at least commonly) included in gene panels for ID offered by diagnostic laboratories.

As a result P4HTM can be considered for inclusion in the ID and epilepsy panels probably as green (several affected individuals, degree of ID relevant) or amber.
Sources: Literature
Early onset or syndromic epilepsy v1.35 VAMP2 Konstantinos Varvagiannis gene: VAMP2 was added
gene: VAMP2 was added to Genetic epilepsy syndromes. Sources: Literature
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to Generalized hypotonia; Global developmental delay; Intellectual disability; Autistic behavior; Stereotypic behavior; Seizures; Abnormality of movement; Cortical visual impairment
Penetrance for gene: VAMP2 were set to unknown
Review for gene: VAMP2 was set to GREEN
Added comment: Gene added in the ID panel (comments below). Epilepsy is a feature of this disorder (observed in 3 unrelated individuals, each with different VAMP2 variant).
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Salpietro et al. (2019 - PMID: 30929742 - DDD study among the co-authors) report on 5 individuals each with private heterozygous de novo variants in VAMP2.

The overlapping phenotype consisted among others of hypotonia with DD, moderate/severe ID and ASD (all in 5/5). Other features included the presence of clinical seizures (3/5 - EEG anomalies observed in all individuals), variable Rett-like stereotypies, hyperkinetic movements, central visual impairment. OFC was normal in all subjects.

VAMP2 encodes the vesicular SNARE protein synaptobrevin-2 which - along with its partners (syntaxin-1A and synaptosomal-associated protein 25) - mediates fusion of synaptic vesicles for the release of neurotransmitters. A number of synaptic proteins involved in Ca+2-regulated neurotransmitter release (eg. Munc18 encoded by STXBP1) regulate the fusion of synaptic vesicles, although SNAREs alone are sufficient for this process.

All variants localized in the v-SNARE domain (aa 31-91 - of 116 total residues - NP_0055047.2) with some phenotypic differences between variants localizing in the C-terminal end of the v-SNARE domain compared to those localizing in its proximal part. The following 3 missense variants and 2 in-frame deletions were reported (using NM_014232 as reference): c.223T>C or p.Ser75Pro - c.233A>C or p.Glu78Ala - c.230T>C or p.Phe77Ser - c.128_130delTGG or p.Val43del and c.135_137delCAT or p.Ile45del.

Functional studies were performed for 2 missense variants and were suggestive of impairment in vesicle fusion for the Ser75Pro variant. The fusion profile for Glu78Ala was however similar to wt. Upon Munc18-activated conditions, wt vesicle fusion was 2-fold increased, in contrast to a >90% loss-of-function effect which was observed for the Ser75Pro variant. Munc18 was however able to activate vesicle fusion mediated by the Glu78Ala variant. When using mixed v-liposomes (50:50 Wildtype:Ser75Pro mutant) the fusion profile was identical to the profile of homogeneous samples containing only the mutant protein which was suggestive of dominant interference of the mutant with wildtype.

In gnomAD, VAMP2 has a (low) Z-score and pLI of 1.41 and 0.89 respectively.

The authors comment that mutations in other genes encoding presynaptic proteins involved in Ca+2-regulated neurotransmitter release (eg SNAP25, STXBP1, etc) have been identified in other neurological disorders (with ID as a feature).

VAMP2 is not associated with any phenotype in OMIM or G2P. This gene is included in gene panels for ID offered by some diagnostic laboratories.

As a result, VAMP2 can be considered for inclusion in the ID panel probably as green (5 individuals, degree of ID relevant) or amber.
Sources: Literature
Intellectual disability v2.798 VAMP2 Konstantinos Varvagiannis gene: VAMP2 was added
gene: VAMP2 was added to Intellectual disability. Sources: Literature
Mode of inheritance for gene: VAMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAMP2 were set to 30929742
Phenotypes for gene: VAMP2 were set to Generalized hypotonia; Global developmental delay; Intellectual disability; Autistic behavior; Stereotypic behavior; Seizures; Abnormality of movement; Cortical visual impairment
Penetrance for gene: VAMP2 were set to unknown
Review for gene: VAMP2 was set to GREEN
gene: VAMP2 was marked as current diagnostic
Added comment: Salpietro et al. (2019 - PMID: 30929742 - DDD study among the co-authors) report on 5 individuals each with private heterozygous de novo variants in VAMP2.

The overlapping phenotype consisted among others of hypotonia with DD, moderate/severe ID and ASD (all in 5/5). Other features included the presence of clinical seizures (3/5 - EEG anomalies observed in all individuals), variable Rett-like stereotypies, hyperkinetic movements, central visual impairment. OFC was normal in all subjects.

VAMP2 encodes the vesicular SNARE protein synaptobrevin-2 which - along with its partners (syntaxin-1A and synaptosomal-associated protein 25) - mediates fusion of synaptic vesicles for the release of neurotransmitters. A number of synaptic proteins involved in Ca+2-regulated neurotransmitter release (eg. Munc18 encoded by STXBP1) regulate the fusion of synaptic vesicles, although SNAREs alone are sufficient for this process.

All variants localized in the v-SNARE domain (aa 31-91 - of 116 total residues - NP_0055047.2) with some phenotypic differences between variants localizing in the C-terminal end of the v-SNARE domain compared to those localizing in its proximal part. The following 3 missense variants and 2 in-frame deletions were reported (using NM_014232 as reference): c.223T>C or p.Ser75Pro - c.233A>C or p.Glu78Ala - c.230T>C or p.Phe77Ser - c.128_130delTGG or p.Val43del and c.135_137delCAT or p.Ile45del.

Functional studies were performed for 2 missense variants and were suggestive of impairment in vesicle fusion for the Ser75Pro variant. The fusion profile for Glu78Ala was however similar to wt. Upon Munc18-activated conditions, wt vesicle fusion was 2-fold increased, in contrast to a >90% loss-of-function effect which was observed for the Ser75Pro variant. Munc18 was however able to activate vesicle fusion mediated by the Glu78Ala variant. When using mixed v-liposomes (50:50 Wildtype:Ser75Pro mutant) the fusion profile was identical to the profile of homogeneous samples containing only the mutant protein which was suggestive of dominant interference of the mutant with wildtype.

In gnomAD, VAMP2 has a (low) Z-score and pLI of 1.41 and 0.89 respectively.

The authors comment that mutations in other genes encoding presynaptic proteins involved in Ca+2-regulated neurotransmitter release (eg SNAP25, STXBP1, etc) have been identified in other neurological disorders (with ID as a feature).

VAMP2 is not associated with any phenotype in OMIM or G2P. This gene is included in gene panels for ID offered by some diagnostic laboratories.

As a result, VAMP2 can be considered for inclusion in the ID panel probably as green (5 individuals, degree of ID relevant) or amber.
Sources: Literature
Stickler syndrome v1.32 LRP2 Anna de Burca Classified gene: LRP2 as Amber List (moderate evidence)
Stickler syndrome v1.32 LRP2 Anna de Burca Gene: lrp2 has been classified as Amber List (Moderate Evidence).
Stickler syndrome v1.31 LRP2 Anna de Burca gene: LRP2 was added
gene: LRP2 was added to Stickler syndrome. Sources: Expert list
Mode of inheritance for gene: LRP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRP2 were set to 23992033
Review for gene: LRP2 was set to AMBER
Added comment: Submitted by Alan Richards on behalf of East Mids & East of England Genomic Laboratory Hub.
Sources: Expert list
Stickler syndrome v1.30 BMP4 Anna de Burca Classified gene: BMP4 as Amber List (moderate evidence)
Stickler syndrome v1.30 BMP4 Anna de Burca Gene: bmp4 has been classified as Amber List (Moderate Evidence).
Stickler syndrome v1.29 BMP4 Anna de Burca gene: BMP4 was added
gene: BMP4 was added to Stickler syndrome. Sources: Expert list
Mode of inheritance for gene: BMP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BMP4 were set to 25663169; 30362103
Review for gene: BMP4 was set to AMBER
Added comment: Submitted by Alan Richards on behalf of East Mids & East of England Genomic Laboratory Hub.
Sources: Expert list
Stickler syndrome v1.28 LOXL3 Anna de Burca Classified gene: LOXL3 as Amber List (moderate evidence)
Stickler syndrome v1.28 LOXL3 Anna de Burca Gene: loxl3 has been classified as Amber List (Moderate Evidence).
Stickler syndrome v1.27 COL9A3 Anna de Burca Classified gene: COL9A3 as Green List (high evidence)
Stickler syndrome v1.27 COL9A3 Anna de Burca Gene: col9a3 has been classified as Green List (High Evidence).
Ehlers Danlos syndrome with a likely monogenic cause v1.43 TNXB Louise Daugherty edited their review of gene: TNXB: Changed rating: GREEN
Fetal anomalies v0.165 SLC52A2 Rebecca Foulger Source Expert Review Red was added to SLC52A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UFC1 Rebecca Foulger Source Expert Review Red was added to UFC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 ZNF711 Rebecca Foulger Source Expert Review Red was added to ZNF711.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 ZFYVE26 Rebecca Foulger Source Expert Review Red was added to ZFYVE26.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 ZDHHC9 Rebecca Foulger Source Expert Review Red was added to ZDHHC9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 XPC Rebecca Foulger Source Expert Review Red was added to XPC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 XPA Rebecca Foulger Source Expert Review Red was added to XPA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 WDR45 Rebecca Foulger Source Expert Review Red was added to WDR45.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 WDR11 Rebecca Foulger Source Expert Review Red was added to WDR11.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UVSSA Rebecca Foulger Source Expert Review Red was added to UVSSA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UROS Rebecca Foulger Source Expert Review Red was added to UROS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UROC1 Rebecca Foulger Source Expert Review Red was added to UROC1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UNC80 Rebecca Foulger Source Expert Review Red was added to UNC80.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UGT1A1 Rebecca Foulger Source Expert Review Red was added to UGT1A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 UBE3A Rebecca Foulger Source Expert Review Red was added to UBE3A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TYRP1 Rebecca Foulger Source Expert Review Red was added to TYRP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TYR Rebecca Foulger Source Expert Review Red was added to TYR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TUSC3 Rebecca Foulger Source Expert Review Red was added to TUSC3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TSPAN7 Rebecca Foulger Source Expert Review Red was added to TSPAN7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TSHR Rebecca Foulger Source Expert Review Red was added to TSHR.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TRPM1 Rebecca Foulger Source Expert Review Red was added to TRPM1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TMPRSS6 Rebecca Foulger Source Expert Review Red was added to TMPRSS6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TH Rebecca Foulger Source Expert Review Red was added to TH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 TAT Rebecca Foulger Source Expert Review Red was added to TAT.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SYP Rebecca Foulger Source Expert Review Red was added to SYP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SYNGAP1 Rebecca Foulger Source Expert Review Red was added to SYNGAP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SUCLG1 Rebecca Foulger Publications for gene SUCLG1 were changed from to 21093335
Fetal anomalies v0.165 STXBP1 Rebecca Foulger Source Expert Review Red was added to STXBP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 STS Rebecca Foulger Source Expert Review Red was added to STS.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 STAG1 Rebecca Foulger Source Expert Review Red was added to STAG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SMPD1 Rebecca Foulger Source Expert Review Red was added to SMPD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC6A5 Rebecca Foulger Source Expert Review Red was added to SLC6A5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC6A3 Rebecca Foulger Source Expert Review Red was added to SLC6A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC6A1 Rebecca Foulger Source Expert Review Red was added to SLC6A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC5A5 Rebecca Foulger Source Expert Review Red was added to SLC5A5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC52A3 Rebecca Foulger Source Expert Review Red was added to SLC52A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC46A1 Rebecca Foulger Source Expert Review Red was added to SLC46A1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC2A2 Rebecca Foulger Source Expert Review Red was added to SLC2A2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC25A15 Rebecca Foulger Source Expert Review Red was added to SLC25A15.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC22A5 Rebecca Foulger Source Expert Review Red was added to SLC22A5.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SLC19A3 Rebecca Foulger Source Expert Review Red was added to SLC19A3.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SIK1 Rebecca Foulger Source Expert Review Red was added to SIK1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SCN8A Rebecca Foulger Source Expert Review Red was added to SCN8A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SCN2A Rebecca Foulger Source Expert Review Red was added to SCN2A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SCN1B Rebecca Foulger Source Expert Review Red was added to SCN1B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SCN1A Rebecca Foulger Source Expert Review Red was added to SCN1A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.165 SCN11A Rebecca Foulger Source Expert Review Red was added to SCN11A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.164 WNT3 Rebecca Foulger Publications for gene: WNT3 were set to 14872406
Fetal anomalies v0.163 WNT3 Rebecca Foulger commented on gene: WNT3: Despite a disease confidence rating of 'confirmed' in DDG2P, there is limited evidence for the association of WNT3 with Tetra-Amelia syndrome: 2 fetuses from 1 consanguineous Turkish family were reported in PMID:14872406 (2004). PMID:16283889 and PMID:18837045 ruled out WNT3 as a cause for tetra-amelia in their cases.
Fetal anomalies v0.163 TRIM32 Rebecca Foulger Publications for gene: TRIM32 were set to
Fetal anomalies v0.162 SLX4 Rebecca Foulger Publications for gene: SLX4 were set to
Fetal anomalies v0.161 SLX4 Rebecca Foulger commented on gene: SLX4: Sufficient unrelated cases in OMIM supporting a link between SLX4 variants and Fanconi anaemia, including a Dutch boy and 3 German siblings from PMID:21240277, and a 15 year old Indian girl and a 22 year old male from PMID:21240275- the compound het variants in the 22 yr old male included a large genomic deletion.
Undiagnosed metabolic disorders v1.104 MANBA Sarah Leigh Classified gene: MANBA as Green List (high evidence)
Undiagnosed metabolic disorders v1.104 MANBA 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 6 unrelated cases.
Undiagnosed metabolic disorders v1.104 MANBA Sarah Leigh Gene: manba has been classified as Green List (High Evidence).
Fetal anomalies v0.161 ZC4H2 Rebecca Foulger edited their review of gene: ZC4H2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SAMD9 Rebecca Foulger edited their review of gene: SAMD9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Note that MOI for AD may be GOF and associated AR condition is not fetally relevant.; Changed rating: GREEN
Fetal anomalies v0.161 SLC10A7 Rebecca Foulger edited their review of gene: SLC10A7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TRAF7 Rebecca Foulger edited their review of gene: TRAF7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC52A2 Rebecca Foulger edited their review of gene: SLC52A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC52A2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 STAG2 Rebecca Foulger edited their review of gene: STAG2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 UFC1 Rebecca Foulger edited their review of gene: UFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UFC1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TRIP4 Rebecca Foulger commented on gene: TRIP4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 TPM2 Rebecca Foulger edited their review of gene: TPM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX18 Rebecca Foulger commented on gene: TBX18: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 RBPJ Rebecca Foulger commented on gene: RBPJ: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 NOTCH1 Rebecca Foulger commented on gene: NOTCH1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 LGI4 Rebecca Foulger commented on gene: LGI4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 GLDN Rebecca Foulger commented on gene: GLDN: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 EPHB4 Rebecca Foulger commented on gene: EPHB4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 DOCK6 Rebecca Foulger commented on gene: DOCK6: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 CNTNAP1 Rebecca Foulger commented on gene: CNTNAP1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 CHRNA1 Rebecca Foulger edited their review of gene: CHRNA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 CFC1 Rebecca Foulger edited their review of gene: CFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ARHGAP31 Rebecca Foulger commented on gene: ARHGAP31: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 ARCN1 Rebecca Foulger edited their review of gene: ARCN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 AKT3 Rebecca Foulger commented on gene: AKT3: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Fetal anomalies v0.161 TWIST2 Rebecca Foulger edited their review of gene: TWIST2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TCTN1 Rebecca Foulger edited their review of gene: TCTN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBC1D20 Rebecca Foulger edited their review of gene: TBC1D20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 MAGEL2 Rebecca Foulger edited their review of gene: MAGEL2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 KMT2C Rebecca Foulger edited their review of gene: KMT2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 IL11RA Rebecca Foulger edited their review of gene: IL11RA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 IFIH1 Rebecca Foulger edited their review of gene: IFIH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Change mode of inheritance back to monoallelic because both these conditions are AD inheritance- previous change to biallelic was most likely a misunderstanding.; Changed rating: GREEN
Fetal anomalies v0.161 ERCC4 Rebecca Foulger edited their review of gene: ERCC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 DNAH5 Rebecca Foulger edited their review of gene: DNAH5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ATAD3A Rebecca Foulger edited their review of gene: ATAD3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 PIEZO1 Rebecca Foulger edited their review of gene: PIEZO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ACTB Rebecca Foulger edited their review of gene: ACTB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 KYNU Rebecca Foulger edited their review of gene: KYNU: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 HAAO Rebecca Foulger edited their review of gene: HAAO: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZNF711 Rebecca Foulger edited their review of gene: ZNF711: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Onset in childhood, progressive. Action taken: Demoted ZNF711 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 ZMPSTE24 Rebecca Foulger edited their review of gene: ZMPSTE24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZIC3 Rebecca Foulger edited their review of gene: ZIC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZIC2 Rebecca Foulger edited their review of gene: ZIC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZIC1 Rebecca Foulger edited their review of gene: ZIC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZFYVE26 Rebecca Foulger edited their review of gene: ZFYVE26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Thin corpus callosum only. Onset in childhood, progressive. Action taken: Demoted ZFYVE26 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 ZEB2 Rebecca Foulger edited their review of gene: ZEB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZDHHC9 Rebecca Foulger edited their review of gene: ZDHHC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ZDHHC9 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 ZBTB20 Rebecca Foulger edited their review of gene: ZBTB20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 ZBTB18 Rebecca Foulger edited their review of gene: ZBTB18: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 YY1 Rebecca Foulger edited their review of gene: YY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Phenotype is a bit non-specific, but various structural phenotypes have been reported.; Changed rating: GREEN
Fetal anomalies v0.161 XYLT1 Rebecca Foulger edited their review of gene: XYLT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 XRCC4 Rebecca Foulger edited their review of gene: XRCC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 XPC Rebecca Foulger edited their review of gene: XPC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted XPC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 XPA Rebecca Foulger edited their review of gene: XPA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted XPA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 WT1 Rebecca Foulger edited their review of gene: WT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WNT7A Rebecca Foulger edited their review of gene: WNT7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WNT5A Rebecca Foulger edited their review of gene: WNT5A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WNT10B Rebecca Foulger edited their review of gene: WNT10B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WNT1 Rebecca Foulger edited their review of gene: WNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WDR62 Rebecca Foulger edited their review of gene: WDR62: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WDR60 Rebecca Foulger edited their review of gene: WDR60: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WDR45 Rebecca Foulger edited their review of gene: WDR45: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Iron deposition, doesn't seem to present prenatally. Action taken: Demoted WDR45 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 WDR35 Rebecca Foulger edited their review of gene: WDR35: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WDR34 Rebecca Foulger edited their review of gene: WDR34: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 WDR26 Rebecca Foulger edited their review of gene: WDR26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Various structural brain malformations.; Changed rating: GREEN
Fetal anomalies v0.161 WDR11 Rebecca Foulger edited their review of gene: WDR11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted WDR11 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 WDPCP Rebecca Foulger edited their review of gene: WDPCP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 VSX2 Rebecca Foulger edited their review of gene: VSX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 VPS33B Rebecca Foulger edited their review of gene: VPS33B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 VLDLR Rebecca Foulger edited their review of gene: VLDLR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 VIPAS39 Rebecca Foulger edited their review of gene: VIPAS39: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 UVSSA Rebecca Foulger edited their review of gene: UVSSA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UVSSA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 UROS Rebecca Foulger edited their review of gene: UROS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UROS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 UROC1 Rebecca Foulger edited their review of gene: UROC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UROC1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 UNC80 Rebecca Foulger edited their review of gene: UNC80: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UNC80 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 UGT1A1 Rebecca Foulger edited their review of gene: UGT1A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UGT1A1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 UBR1 Rebecca Foulger edited their review of gene: UBR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 UBE3B Rebecca Foulger edited their review of gene: UBE3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 UBE3A Rebecca Foulger edited their review of gene: UBE3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UBE3A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TYRP1 Rebecca Foulger edited their review of gene: TYRP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TYRP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TYR Rebecca Foulger edited their review of gene: TYR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TYR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TXNL4A Rebecca Foulger edited their review of gene: TXNL4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TWIST1 Rebecca Foulger edited their review of gene: TWIST1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TUSC3 Rebecca Foulger edited their review of gene: TUSC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TUSC3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TUBGCP6 Rebecca Foulger edited their review of gene: TUBGCP6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TUBB2B Rebecca Foulger edited their review of gene: TUBB2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TUBB Rebecca Foulger edited their review of gene: TUBB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TUBA8 Rebecca Foulger edited their review of gene: TUBA8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TUBA1A Rebecca Foulger edited their review of gene: TUBA1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TTC8 Rebecca Foulger edited their review of gene: TTC8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TTC7A Rebecca Foulger edited their review of gene: TTC7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TTC37 Rebecca Foulger edited their review of gene: TTC37: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TSPAN7 Rebecca Foulger edited their review of gene: TSPAN7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TSPAN7 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TSHR Rebecca Foulger edited their review of gene: TSHR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TSHR gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TSEN54 Rebecca Foulger edited their review of gene: TSEN54: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TSC2 Rebecca Foulger edited their review of gene: TSC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TSC1 Rebecca Foulger edited their review of gene: TSC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TRPS1 Rebecca Foulger edited their review of gene: TRPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TRPM1 Rebecca Foulger edited their review of gene: TRPM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TRPM1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TRIP11 Rebecca Foulger edited their review of gene: TRIP11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TRIM37 Rebecca Foulger edited their review of gene: TRIM37: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TREX1 Rebecca Foulger edited their review of gene: TREX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TP63 Rebecca Foulger edited their review of gene: TP63: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TMPRSS6 Rebecca Foulger edited their review of gene: TMPRSS6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TMPRSS6 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TMEM5 Rebecca Foulger edited their review of gene: TMEM5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TMEM237 Rebecca Foulger edited their review of gene: TMEM237: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TINF2 Rebecca Foulger edited their review of gene: TINF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: CNS features.; Changed rating: GREEN
Fetal anomalies v0.161 THRA Rebecca Foulger edited their review of gene: THRA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 THOC6 Rebecca Foulger edited their review of gene: THOC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TH Rebecca Foulger edited their review of gene: TH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TH gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TGDS Rebecca Foulger edited their review of gene: TGDS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TFAP2A Rebecca Foulger edited their review of gene: TFAP2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TCTN3 Rebecca Foulger edited their review of gene: TCTN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TCOF1 Rebecca Foulger edited their review of gene: TCOF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TCF4 Rebecca Foulger edited their review of gene: TCF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TCF12 Rebecca Foulger edited their review of gene: TCF12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX5 Rebecca Foulger edited their review of gene: TBX5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX4 Rebecca Foulger edited their review of gene: TBX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX3 Rebecca Foulger edited their review of gene: TBX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX20 Rebecca Foulger edited their review of gene: TBX20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX15 Rebecca Foulger edited their review of gene: TBX15: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBX1 Rebecca Foulger edited their review of gene: TBX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBCK Rebecca Foulger edited their review of gene: TBCK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBC1D24 Rebecca Foulger edited their review of gene: TBC1D24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TBC1D23 Rebecca Foulger edited their review of gene: TBC1D23: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TAZ Rebecca Foulger edited their review of gene: TAZ: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 TAT Rebecca Foulger edited their review of gene: TAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TAT gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 TAB2 Rebecca Foulger edited their review of gene: TAB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SYP Rebecca Foulger edited their review of gene: SYP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted SYP gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SYNGAP1 Rebecca Foulger edited their review of gene: SYNGAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted SYNGAP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SUCLG1 Rebecca Foulger edited their review of gene: SUCLG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Has presented prenatally (PMID:21093335); Changed rating: GREEN; Changed publications: 21093335
Fetal anomalies v0.161 STXBP1 Rebecca Foulger edited their review of gene: STXBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted STXBP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 STS Rebecca Foulger edited their review of gene: STS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Cutaneous patches only. Action taken: Demoted STS gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 STRA6 Rebecca Foulger edited their review of gene: STRA6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 STAR Rebecca Foulger edited their review of gene: STAR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 STAMBP Rebecca Foulger edited their review of gene: STAMBP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 STAG1 Rebecca Foulger edited their review of gene: STAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted STAG1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SRY Rebecca Foulger edited their review of gene: SRY: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SRD5A3 Rebecca Foulger edited their review of gene: SRD5A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SRCAP Rebecca Foulger edited their review of gene: SRCAP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SPEG Rebecca Foulger edited their review of gene: SPEG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Severe phenotype with onset in infancy so assume contractures etc could present prenatally.; Changed rating: GREEN
Fetal anomalies v0.161 SPAG1 Rebecca Foulger edited their review of gene: SPAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SOX3 Rebecca Foulger edited their review of gene: SOX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Structural pitiutary abnormalities reported.; Changed rating: GREEN
Fetal anomalies v0.161 SOX2 Rebecca Foulger edited their review of gene: SOX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SOX17 Rebecca Foulger edited their review of gene: SOX17: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SOS1 Rebecca Foulger edited their review of gene: SOS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SON Rebecca Foulger edited their review of gene: SON: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SNX14 Rebecca Foulger edited their review of gene: SNX14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SNRPB Rebecca Foulger edited their review of gene: SNRPB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SMPD1 Rebecca Foulger edited their review of gene: SMPD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SMPD1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SMOC1 Rebecca Foulger edited their review of gene: SMOC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SMC3 Rebecca Foulger edited their review of gene: SMC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SMC1A Rebecca Foulger edited their review of gene: SMC1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SMARCB1 Rebecca Foulger edited their review of gene: SMARCB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SMARCA4 Rebecca Foulger edited their review of gene: SMARCA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLX4 Rebecca Foulger edited their review of gene: SLX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: yes providing sufficient evidence.; Changed rating: GREEN
Fetal anomalies v0.161 SLC6A5 Rebecca Foulger edited their review of gene: SLC6A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC6A3 Rebecca Foulger edited their review of gene: SLC6A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC6A1 Rebecca Foulger edited their review of gene: SLC6A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC5A5 Rebecca Foulger edited their review of gene: SLC5A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC5A5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC52A3 Rebecca Foulger edited their review of gene: SLC52A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC52A3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC46A1 Rebecca Foulger edited their review of gene: SLC46A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC46A1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC35D1 Rebecca Foulger edited their review of gene: SLC35D1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC33A1 Rebecca Foulger edited their review of gene: SLC33A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC2A2 Rebecca Foulger edited their review of gene: SLC2A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC2A2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC27A4 Rebecca Foulger edited their review of gene: SLC27A4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC26A2 Rebecca Foulger edited their review of gene: SLC26A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC25A24 Rebecca Foulger edited their review of gene: SLC25A24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC25A15 Rebecca Foulger edited their review of gene: SLC25A15: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC25A15 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC22A5 Rebecca Foulger edited their review of gene: SLC22A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC22A5 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC19A3 Rebecca Foulger edited their review of gene: SLC19A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC19A3 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SLC17A5 Rebecca Foulger edited their review of gene: SLC17A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Hydrops in infantile form.; Changed rating: GREEN
Fetal anomalies v0.161 SLC16A2 Rebecca Foulger edited their review of gene: SLC16A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SLC13A5 Rebecca Foulger edited their review of gene: SLC13A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SKI Rebecca Foulger edited their review of gene: SKI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SIX5 Rebecca Foulger edited their review of gene: SIX5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SIX3 Rebecca Foulger edited their review of gene: SIX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SIL1 Rebecca Foulger edited their review of gene: SIL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SIK1 Rebecca Foulger edited their review of gene: SIK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SIK1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SHOX Rebecca Foulger edited their review of gene: SHOX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SHOC2 Rebecca Foulger edited their review of gene: SHOC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SHH Rebecca Foulger edited their review of gene: SHH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SH3PXD2B Rebecca Foulger edited their review of gene: SH3PXD2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SF3B4 Rebecca Foulger edited their review of gene: SF3B4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SETBP1 Rebecca Foulger edited their review of gene: SETBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SEC23B Rebecca Foulger edited their review of gene: SEC23B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SDCCAG8 Rebecca Foulger edited their review of gene: SDCCAG8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SCN8A Rebecca Foulger edited their review of gene: SCN8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN8A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SCN2A Rebecca Foulger edited their review of gene: SCN2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN2A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SCN1B Rebecca Foulger edited their review of gene: SCN1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN1B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SCN1A Rebecca Foulger edited their review of gene: SCN1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN1A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SCN11A Rebecca Foulger edited their review of gene: SCN11A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN11A gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.161 SCARF2 Rebecca Foulger edited their review of gene: SCARF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SC5D Rebecca Foulger edited their review of gene: SC5D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SATB2 Rebecca Foulger edited their review of gene: SATB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SALL4 Rebecca Foulger edited their review of gene: SALL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 SALL1 Rebecca Foulger edited their review of gene: SALL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.161 RYR1 Rebecca Foulger edited their review of gene: RYR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.160 WNT3 Rebecca Foulger Publications for gene: WNT3 were set to
Undiagnosed metabolic disorders v1.103 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Farber disease (Sphingolipidoses); Fetal hydrops; Intellectual disability to Spinal muscular atrophy with progressive myoclonic epilepsy 159950; Farber lipogranulomatosis 228000; Fetal hydrops; Intellectual disability
Undiagnosed metabolic disorders v1.102 ASAH1 Sarah Leigh Classified gene: ASAH1 as Green List (high evidence)
Undiagnosed metabolic disorders v1.102 ASAH1 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 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950.
Undiagnosed metabolic disorders v1.102 ASAH1 Sarah Leigh Gene: asah1 has been classified as Green List (High Evidence).
Fetal anomalies v0.159 TBX22 Rebecca Foulger Publications for gene: TBX22 were set to
Fetal anomalies v0.158 TBX22 Rebecca Foulger Added comment: Comment on phenotypes: Added '?Abruzzo-Erickson syndrome, 302905' based on OMIM and clinical review that Abruzzo-Erickson syndrome phenotype is clinically relevant. Kept the question-mark because evidence for this gene:disease association is limited (1 family reported in Pauws et al., 2013 (PMID:22784330).
Fetal anomalies v0.158 TBX22 Rebecca Foulger Phenotypes for gene: TBX22 were changed from CLEFT PALATE, X-LINKED to CLEFT PALATE, X-LINKED; ?Abruzzo-Erickson syndrome, 302905
Undiagnosed metabolic disorders v1.101 ASAH1 Sarah Leigh Publications for gene: ASAH1 were set to 27604308
Early onset or syndromic epilepsy v1.35 ASAH1 Sarah Leigh Publications for gene: ASAH1 were set to
Lysosomal storage disorder v0.3 ARSG Sarah Leigh reviewed gene: ARSG: Rating: ; Mode of pathogenicity: None; Publications: 20679209, 25452429, 26975023, 29300381; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.157 SAMD9 Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of inheritance as 'monoallelic' following review of the gene by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019. They note that the associated AR condition (Tumoral calcinosis, familial, normophosphatemic, MIM:610455) is not fetally relevant.
Fetal anomalies v0.157 SAMD9 Rebecca Foulger Mode of inheritance for gene: SAMD9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v0.156 SAMD9 Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed the Mode of Pathogenicity to 'Other' following review of the gene by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019. They note that the AD inheritance may be gain-of-function.
Fetal anomalies v0.156 SAMD9 Rebecca Foulger Mode of pathogenicity for gene: SAMD9 was changed from to Other
Fetal anomalies v0.155 IFIH1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI back to 'monoallelic' following review by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019: both associated disorders (Aicardi-Goutieres syndrome 7 and 'Singleton-Merten syndrome 1) have monoallelic inheritance. The original switch to biallelic inheritance was probably due to a misunderstanding.
Fetal anomalies v0.155 IFIH1 Rebecca Foulger Mode of inheritance for gene: IFIH1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Undiagnosed metabolic disorders v1.100 ARSG Sarah Leigh Publications for gene: ARSG were set to 20679209; 25452429; 26975023
Fetal anomalies v0.154 RETREG1 Rebecca Foulger Source Expert Review Red was added to RETREG1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 RARS2 Rebecca Foulger Publications for gene RARS2 were changed from to 26083569
Fetal anomalies v0.154 PYGL Rebecca Foulger Source Expert Review Red was added to PYGL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PURA Rebecca Foulger Source Expert Review Red was added to PURA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PTCHD1 Rebecca Foulger Source Expert Review Red was added to PTCHD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PRDM12 Rebecca Foulger Source Expert Review Red was added to PRDM12.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PDE6G Rebecca Foulger Source Expert Review Red was added to PDE6G.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PCDH19 Rebecca Foulger Source Expert Review Red was added to PCDH19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PCCB Rebecca Foulger Source Expert Review Red was added to PCCB.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PCCA Rebecca Foulger Source Expert Review Red was added to PCCA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PCBD1 Rebecca Foulger Source Expert Review Red was added to PCBD1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PAX9 Rebecca Foulger Source Expert Review Red was added to PAX9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 PAK3 Rebecca Foulger Publications for gene PAK3 were changed from to 24556213
Fetal anomalies v0.154 PAH Rebecca Foulger Source Expert Review Red was added to PAH.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 OXCT1 Rebecca Foulger Source Expert Review Red was added to OXCT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 OTOGL Rebecca Foulger Source Expert Review Red was added to OTOGL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.154 OTC Rebecca Foulger Source Expert Review Red was added to OTC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.153 RNU4ATAC Rebecca Foulger edited their review of gene: RNU4ATAC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RNASET2 Rebecca Foulger edited their review of gene: RNASET2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RMRP Rebecca Foulger edited their review of gene: RMRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Rhizomelic limb shortening.; Changed rating: GREEN
Fetal anomalies v0.153 RFX6 Rebecca Foulger edited their review of gene: RFX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RETREG1 Rebecca Foulger edited their review of gene: RETREG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted RETREG1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 RERE Rebecca Foulger edited their review of gene: RERE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RELN Rebecca Foulger edited their review of gene: RELN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RECQL4 Rebecca Foulger edited their review of gene: RECQL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RBM8A Rebecca Foulger edited their review of gene: RBM8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAX Rebecca Foulger edited their review of gene: RAX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RASA1 Rebecca Foulger edited their review of gene: RASA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RARS2 Rebecca Foulger edited their review of gene: RARS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 26083569
Fetal anomalies v0.153 RARB Rebecca Foulger edited their review of gene: RARB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAI1 Rebecca Foulger edited their review of gene: RAI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAF1 Rebecca Foulger edited their review of gene: RAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAD21 Rebecca Foulger edited their review of gene: RAD21: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Also one family reported with biallelic inheritance, Mungan syndrome (MIM:611376).; Changed rating: GREEN
Fetal anomalies v0.153 RAB3GAP2 Rebecca Foulger edited their review of gene: RAB3GAP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAB3GAP1 Rebecca Foulger edited their review of gene: RAB3GAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAB23 Rebecca Foulger edited their review of gene: RAB23: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 RAB18 Rebecca Foulger edited their review of gene: RAB18: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 QRICH1 Rebecca Foulger edited their review of gene: QRICH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Only 5 cases reported so far so phenotype is not that well-characterised yet. Some dysmorphic features may be detectable prenatally- one case had IUGR, and another had severe microcephaly.; Changed rating: GREEN
Fetal anomalies v0.153 PYGL Rebecca Foulger edited their review of gene: PYGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PYGL gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PYCR1 Rebecca Foulger edited their review of gene: PYCR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: An unpublished case presented with IUGR, Microcephaly, hydronephrosis, echogenic kidney, hypoplastic nasal bone. Long bones short and bowed, ambigious genitalia, megalourethra, thickened bladder wall. OMIM phenotypes include IUGR, microcephaly, long bone bowing and agenesis of the corpus callosum (ACC).; Changed rating: GREEN
Fetal anomalies v0.153 PURA Rebecca Foulger edited their review of gene: PURA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing structural- delayed/hypomyelination only. Action taken: Demoted PURA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PUF60 Rebecca Foulger edited their review of gene: PUF60: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PTH1R Rebecca Foulger edited their review of gene: PTH1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PTF1A Rebecca Foulger edited their review of gene: PTF1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PTDSS1 Rebecca Foulger edited their review of gene: PTDSS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PTCHD1 Rebecca Foulger edited their review of gene: PTCHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted PTCHD1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PTCH1 Rebecca Foulger edited their review of gene: PTCH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PSPH Rebecca Foulger edited their review of gene: PSPH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Neu-Laxova syndrome would present prenatally, but probably not the milder Phosphoserine phosphatase deficiency.; Changed rating: GREEN
Fetal anomalies v0.153 PRDM12 Rebecca Foulger edited their review of gene: PRDM12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PRDM12 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PQBP1 Rebecca Foulger edited their review of gene: PQBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PPP2R5D Rebecca Foulger edited their review of gene: PPP2R5D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Could present as ventriculomegaly.; Changed rating: GREEN
Fetal anomalies v0.153 PPP2R1A Rebecca Foulger edited their review of gene: PPP2R1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PPP1CB Rebecca Foulger edited their review of gene: PPP1CB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 POU1F1 Rebecca Foulger edited their review of gene: POU1F1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PORCN Rebecca Foulger edited their review of gene: PORCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PGAP2 Rebecca Foulger edited their review of gene: PGAP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX7 Rebecca Foulger edited their review of gene: PEX7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX6 Rebecca Foulger edited their review of gene: PEX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX5 Rebecca Foulger edited their review of gene: PEX5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX3 Rebecca Foulger edited their review of gene: PEX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX26 Rebecca Foulger edited their review of gene: PEX26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX2 Rebecca Foulger edited their review of gene: PEX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX19 Rebecca Foulger edited their review of gene: PEX19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX16 Rebecca Foulger edited their review of gene: PEX16: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX13 Rebecca Foulger edited their review of gene: PEX13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX11B Rebecca Foulger edited their review of gene: PEX11B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PEX10 Rebecca Foulger edited their review of gene: PEX10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PDGFRB Rebecca Foulger edited their review of gene: PDGFRB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PDE6G Rebecca Foulger edited their review of gene: PDE6G: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PDE6G gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PDE4D Rebecca Foulger edited their review of gene: PDE4D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Midface hypoplasia and severe brachydactyly.; Changed rating: GREEN
Fetal anomalies v0.153 PCYT1A Rebecca Foulger edited their review of gene: PCYT1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PCNT Rebecca Foulger edited their review of gene: PCNT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PCDH19 Rebecca Foulger edited their review of gene: PCDH19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted PCDH19 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PCCB Rebecca Foulger edited their review of gene: PCCB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably all features are secondary to the metabolite accumulation postnatally. Action taken: Demoted PCCB gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PCCA Rebecca Foulger edited their review of gene: PCCA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably all features are secondary to the metabolite accumulation postnatally. Action taken: Demoted PCCA gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PCBD1 Rebecca Foulger edited their review of gene: PCBD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PCBD1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PAX9 Rebecca Foulger edited their review of gene: PAX9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PAX9 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PAX3 Rebecca Foulger edited their review of gene: PAX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PAX2 Rebecca Foulger edited their review of gene: PAX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PARN Rebecca Foulger edited their review of gene: PARN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Cerebellar hypoplasia.; Changed rating: GREEN
Fetal anomalies v0.153 PAPSS2 Rebecca Foulger edited their review of gene: PAPSS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PALB2 Rebecca Foulger edited their review of gene: PALB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 PAK3 Rebecca Foulger edited their review of gene: PAK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 24556213
Fetal anomalies v0.153 PAH Rebecca Foulger edited their review of gene: PAH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural abnormalities. Action taken: Demoted PAH gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 PAFAH1B1 Rebecca Foulger edited their review of gene: PAFAH1B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 P3H1 Rebecca Foulger edited their review of gene: P3H1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 OXCT1 Rebecca Foulger edited their review of gene: OXCT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype is ketoacidosis, nothing structural. Action taken: Demoted OXCT1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 OTX2 Rebecca Foulger edited their review of gene: OTX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 OTOGL Rebecca Foulger edited their review of gene: OTOGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes aren't structural (Nonsyndromic sensorineural deafness). Action taken: Demoted OTOGL gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 OTC Rebecca Foulger edited their review of gene: OTC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes are not structural- entirely metabolic and only presents when feeding begins. Action taken: Demoted OTC gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.153 ORC6 Rebecca Foulger edited their review of gene: ORC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 ORC4 Rebecca Foulger edited their review of gene: ORC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 ORC1 Rebecca Foulger edited their review of gene: ORC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 OPHN1 Rebecca Foulger edited their review of gene: OPHN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 OCRL Rebecca Foulger edited their review of gene: OCRL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.153 OBSL1 Rebecca Foulger edited their review of gene: OBSL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Undiagnosed metabolic disorders v1.99 PGAM2 Sarah Leigh Publications for gene: PGAM2 were set to 27604308
Undiagnosed metabolic disorders v1.98 PGAM2 Sarah Leigh Classified gene: PGAM2 as Green List (high evidence)
Undiagnosed metabolic disorders v1.98 PGAM2 Sarah Leigh Added comment: Comment on list classification: Additional case with biallelic variant and rhabdomyolysis
Undiagnosed metabolic disorders v1.98 PGAM2 Sarah Leigh Gene: pgam2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.97 PGAM2 Sarah Leigh Deleted their comment
Paroxysmal central nervous system disorders v0.18 FAAHP1 Louise Daugherty commented on gene: FAAHP1: From HGNC the authors PMID:30929760 specify that they used hg19in their CNV analysis (GRCh37). Looking in GRCh37 annotations in the archived version of Ensembl, gene they call ‘FAAH-OUT’ was not annotated at the time, except as http://feb2014.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000232022;r=1:46897801-46911193;tl=YL1ImqsrtgZ7MKxn-5146184-727716019. Doing a BLAST search with the FAAH cDNA on GRCh38 in Ensembl 95 detected both FAAH (ENSG00000117480) and a gene now annotated as ENSG00000232022 in the appropriate location of the genome. HGNC named this as FAAHP1 in 2014. FAAH-OUT is an alias for FAAHP1.
Paroxysmal central nervous system disorders v0.18 FAAHP1 Louise Daugherty gene: FAAHP1 was added
gene: FAAHP1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Literature
Mode of inheritance for gene: FAAHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAHP1 were set to 30929760
Phenotypes for gene: FAAHP1 were set to Pain insensitivity
Review for gene: FAAHP1 was set to RED
Added comment: From OMIM Habib et al. (2019) PMID: 30929760 identified a heterozygous approximately 8-kb heterozygous microdeletion on chromosome 1, about 4.7 kb downstream of the 3-prime end of the FAAH gene. Molecular cloning identified novel 5-prime exons of an expressed FAAH pseudogene, termed FAAHP1 (FAAH-OUT), that mapped within the microdeletion. The microdeletion removed the promoter and first 2 exons of the neighboring FAAHP1 gene. The authors noted that the deleted region is flanked by ALU sequences, which may predispose it to deletion by unequal crossing over. The affected woman also carried a heterozygous hypomorphic polymorphism in the FAAH gene (P129T; 602935.0001) that reduces FAAH enzyme activity. The patient's son, who exhibited some pain insensitivity, carried the microdeletion but not the hypomorphic FAAH allele. The woman's unaffected mother and daughter did not carry the microdeletion, but both carried the FAAH polymorphism in heterozygous state. The proband had approximately triple the levels of various circulating fatty acid amides normally degraded by FAAH compared with controls who were either homozygous wildtype or heterozygous for the hypomorphic FAAH allele. The authors proposed that the microdeletion affects FAAH function either by removing a regulatory element for FAAH or by reducing expression of FAAH-OUT, which may regulate FAAH epigenetically or function as a microRNA decoy for FAAH. One Colombian male sequenced in the 1000 Genomes Project carried a similar microdeletion, but his pain sensitivity was unknown, and he was homozygous wildtype for the FAAH allele. The case provided new insights into the role of the endocannabinoid system in analgesia.
Sources: Literature
Sources: Literature
Pain syndromes v1.4 FAAHP1 Louise Daugherty commented on gene: FAAHP1: From HGNC the authors PMID:30929760 specify that they used hg19in their CNV analysis (GRCh37). Looking in GRCh37 annotations in the archived version of Ensembl, gene they call ‘FAAH-OUT’ was not annotated at the time, except as http://feb2014.archive.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000232022;r=1:46897801-46911193;tl=YL1ImqsrtgZ7MKxn-5146184-727716019. Doing a BLAST search with the FAAH cDNA on GRCh38 in Ensembl 95 detected both FAAH (ENSG00000117480) and a gene now annotated as ENSG00000232022 in the appropriate location of the genome. HGNC named this as FAAHP1 in 2014. FAAH-OUT is an alias for FAAHP1.
Pain syndromes v1.4 FAAHP1 Louise Daugherty gene: FAAHP1 was added
gene: FAAHP1 was added to Pain syndromes. Sources: Literature
Mode of inheritance for gene: FAAHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAHP1 were set to 30929760
Phenotypes for gene: FAAHP1 were set to Pain insensitivity
Review for gene: FAAHP1 was set to RED
Added comment: FAAH-OUT is an alias for FAAHP1.
From OMIM Habib et al. (2019) PMID: 30929760 identified a heterozygous approximately 8-kb heterozygous microdeletion on chromosome 1, about 4.7 kb downstream of the 3-prime end of the FAAH gene. Molecular cloning identified novel 5-prime exons of an expressed FAAH pseudogene, termed FAAHP1 (FAAH-OUT), that mapped within the microdeletion. The microdeletion removed the promoter and first 2 exons of the neighboring FAAHP1 gene. The authors noted that the deleted region is flanked by ALU sequences, which may predispose it to deletion by unequal crossing over. The affected woman also carried a heterozygous hypomorphic polymorphism in the FAAH gene (P129T; 602935.0001) that reduces FAAH enzyme activity. The patient's son, who exhibited some pain insensitivity, carried the microdeletion but not the hypomorphic FAAH allele. The woman's unaffected mother and daughter did not carry the microdeletion, but both carried the FAAH polymorphism in heterozygous state. The proband had approximately triple the levels of various circulating fatty acid amides normally degraded by FAAH compared with controls who were either homozygous wildtype or heterozygous for the hypomorphic FAAH allele. The authors proposed that the microdeletion affects FAAH function either by removing a regulatory element for FAAH or by reducing expression of FAAH-OUT, which may regulate FAAH epigenetically or function as a microRNA decoy for FAAH. One Colombian male sequenced in the 1000 Genomes Project carried a similar microdeletion, but his pain sensitivity was unknown, and he was homozygous wildtype for the FAAH allele. The case provided new insights into the role of the endocannabinoid system in analgesia.
Sources: Literature
Osteogenesis imperfecta v1.19 WNT1 Duncan Baker reviewed gene: WNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 TMEM38B Duncan Baker reviewed gene: TMEM38B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 TAPT1 Duncan Baker reviewed gene: TAPT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 SPARC Duncan Baker reviewed gene: SPARC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 SP7 Duncan Baker reviewed gene: SP7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 SERPINH1 Duncan Baker reviewed gene: SERPINH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 SERPINF1 Duncan Baker reviewed gene: SERPINF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 SEC24D Duncan Baker reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 PPIB Duncan Baker reviewed gene: PPIB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 PLS3 Duncan Baker reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 PLOD2 Duncan Baker reviewed gene: PLOD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 P4HB Duncan Baker reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 P3H1 Duncan Baker reviewed gene: P3H1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 NOTCH2 Duncan Baker reviewed gene: NOTCH2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 LRP5 Duncan Baker reviewed gene: LRP5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 IFITM5 Duncan Baker reviewed gene: IFITM5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 FKBP10 Duncan Baker reviewed gene: FKBP10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 FAM46A Duncan Baker reviewed gene: FAM46A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 CRTAP Duncan Baker reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 COL1A2 Duncan Baker reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 COL1A1 Duncan Baker reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 BMP1 Duncan Baker reviewed gene: BMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 B3GALT6 Duncan Baker reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 ALPL Duncan Baker reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.19 COL11A2 Duncan Baker edited their review of gene: COL11A2: Added comment: Following discussion with Dr Balasubramanian - rate green; Changed phenotypes: Otospondylomegaepiphyseal dysplasia 184840
Osteogenesis imperfecta v1.19 COL11A1 Duncan Baker edited their review of gene: COL11A1: Added comment: Following discussion with Dr Balasubramanian - rate green; Changed phenotypes: ibrochondrogenesis 1228520, Stickler syndrome, type II 604841; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteogenesis imperfecta v1.19 GORAB Duncan Baker edited their review of gene: GORAB: Added comment: Following discussion with Dr Balasubramanian - rate green; Changed publications: 18997784, 28807865
Osteogenesis imperfecta v1.19 DSPP Duncan Baker edited their review of gene: DSPP: Added comment: Following discussion with Dr Balasubramanian - rate green; Changed publications: 29512331; Changed phenotypes: Dentinogenesis imperfecta 125490, no fractures
Osteogenesis imperfecta v1.19 NBAS Duncan Baker edited their review of gene: NBAS: Added comment: Following discussion with Dr Balasubramanian - rate green. Patient 1: NBAS c.5741G>A p.(Arg1914His); c.3010C>T p.(Arg1004*) in a 10-year old boy with significant short stature, bone fragility requiring treatment with bisphosphonates, developmental delay and immunodeficiency. Patient 2: NBAS c.5741G>A p.(Arg1914His); c.2032C>T p.(Gln678*) in a 5-year old boy with similar presenting features, bone fragility, mild developmental delay, abnormal liver function tests and immunodeficiency. In this study, patient fibroblasts have shown reduced collagen expression, compared to control cells and RNAseq studies, in bone cells show that NBAS is expressed in osteoblasts and osteocytes of rodents and primates. These findings provide proof-of-concept that NBAS mutations have mechanistic effects in bone, and that NBAS variants are a novel cause of bone fragility, which is distinguishable from 'Classical' OI.; Changed publications: 27789416
Osteogenesis imperfecta v1.19 CASR Duncan Baker reviewed gene: CASR: Rating: GREEN; Mode of pathogenicity: ; Publications: 22620673; Phenotypes: neonatal severe hyperparathyroidism 239200, severe hypercalcemia, bone demineralization, multiple fractures; Mode of inheritance:
Osteogenesis imperfecta v1.19 B4GALT7 Duncan Baker reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: ; Publications: 26940150; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Osteogenesis imperfecta v1.19 CREB3L1 Duncan Baker edited their review of gene: CREB3L1: Added comment: Following discussion with Dr Balasubramanian - rate green. PMID: 29936144 Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta. A homozygous CREB3L1 stop codon mutation in a boy with severe OI, had blue sclera and tooth agenesis. Markedly low levels of CREB3L1 mRNA were confirmed by qPCR in hOBs (16%) and FB (21%); however, collagen I levels were only reduced in hOBs (5-10%). Electron microscopy of hOBs showed pronounced alterations, with numerous myelin figures and diminished RER vs. normal ultrastructure of FB. Bone histomorphometry and qBEI were similar to collagen I OI, with low trabecular thickness and mineral apposition rate, and increased bone matrix mineralization. Raman microspectroscopy revealed low level of glycosaminoglycans. Clinical response to life-long bisphosphonate treatment was as expected in severe OI with steadily increasing bone mineral density, but despite this the boy suffered repeated childhood fractures. PMID: 30657919 A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta. Identified the first homozygous pathogenic missense variant (p.(Ala304Val)) in a patient with lethal OI, which is located within the highly conserved basic leucine zipper domain, four amino acids upstream of the DNA binding domain. In vitro structural modeling and luciferase assays demonstrate that this missense variant affects a critical residue in this functional domain, thereby decreasing the type I collagen transcriptional binding ability. In addition, overexpression of the mutant OASIS protein leads to decreased transcription of the SEC23A and SEC24D genes, which code for components of the coat protein complex type II (COPII), and aberrant OASIS signaling also results in decreased protein levels of SEC24D.; Changed publications: 29936144, 30657919; Changed phenotypes: Osteogenesis imperfecta, type XVI 616229
Osteogenesis imperfecta v1.19 TRPV6 Duncan Baker edited their review of gene: TRPV6: Added comment: Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties.; Changed phenotypes: hyperparathyroidism and metabolic bone disease 618188
Osteogenesis imperfecta v1.19 NUDT6 Duncan Baker commented on gene: NUDT6: Request from Dr Meena Balasubramian - plausible to cause bone fragility, add to panel if possible
Osteogenesis imperfecta v1.19 COPB2 Duncan Baker edited their review of gene: COPB2: Added comment: Request from Dr Meena Balasubramian - plausible to cause bone fragility, add to panel if possible; Changed phenotypes: Juvenile Osteoporosis
Osteogenesis imperfecta v1.18 WNT1 Eleanor Williams reviewed gene: WNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 TMEM38B Eleanor Williams reviewed gene: TMEM38B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 TAPT1 Eleanor Williams reviewed gene: TAPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 SPARC Eleanor Williams reviewed gene: SPARC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 SP7 Eleanor Williams reviewed gene: SP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 SERPINH1 Eleanor Williams reviewed gene: SERPINH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 SERPINF1 Eleanor Williams reviewed gene: SERPINF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 SEC24D Eleanor Williams reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 PPIB Eleanor Williams reviewed gene: PPIB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 PLS3 Eleanor Williams reviewed gene: PLS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 PLOD2 Eleanor Williams reviewed gene: PLOD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 P4HB Eleanor Williams reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 P3H1 Eleanor Williams reviewed gene: P3H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 NOTCH2 Eleanor Williams reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 LRP5 Eleanor Williams reviewed gene: LRP5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 IFITM5 Eleanor Williams reviewed gene: IFITM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 FKBP10 Eleanor Williams reviewed gene: FKBP10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 FAM46A Eleanor Williams reviewed gene: FAM46A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 CRTAP Eleanor Williams reviewed gene: CRTAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 COL1A2 Eleanor Williams reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 COL1A1 Eleanor Williams reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 BMP1 Eleanor Williams reviewed gene: BMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 B3GALT6 Eleanor Williams reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 ALPL Eleanor Williams reviewed gene: ALPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 COL11A2 Eleanor Williams reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 COL11A1 Eleanor Williams reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 GORAB Eleanor Williams reviewed gene: GORAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 DSPP Eleanor Williams reviewed gene: DSPP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 NBAS Eleanor Williams reviewed gene: NBAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 CASR Eleanor Williams reviewed gene: CASR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 B4GALT7 Eleanor Williams reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 CREB3L1 Eleanor Williams reviewed gene: CREB3L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 TRPV6 Eleanor Williams reviewed gene: TRPV6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Osteogenesis imperfecta v1.18 NUDT6 Eleanor Williams edited their review of gene: NUDT6: Added comment: This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: NUDT6; Suggested initial gene rating: amber; Changed rating: AMBER
Osteogenesis imperfecta v1.18 COPB2 Eleanor Williams edited their review of gene: COPB2: Added comment: This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COPB2; Suggested initial gene rating: amber; Changed rating: AMBER
Haematological malignancies cancer susceptibility v1.16 HPLH1 Ellen McDonagh Classified gene: HPLH1 as No list
Haematological malignancies cancer susceptibility v1.16 HPLH1 Ellen McDonagh Added comment: Comment on list classification: This has been removed as it is a 'phenotype only' locus type in HGNC and not a gene though it has a gene symbol. Not mapped to Ensembl coordinates.
Haematological malignancies cancer susceptibility v1.16 HPLH1 Ellen McDonagh Gene: hplh1 has been removed from the panel.
Haematological malignancies cancer susceptibility v1.15 HPLH1 Ellen McDonagh gene: HPLH1 was added
gene: HPLH1 was added to Haematological malignancies cancer susceptibility. Sources: Other
Mode of inheritance for gene: HPLH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HPLH1 were set to Hemophagocytic lymphohistiocytosis, familial, 1
Added comment: Gene added to this panel because it is part of the OMIM phenotypic series for familial hemophagocytic lymphohistiocytosis which is associated with suseptibility to haematological maligancy, and the other genes in this series have been added.
Sources: Other
Haematological malignancies cancer susceptibility v1.14 UNC13D Ellen McDonagh Added comment: Comment on mode of inheritance: Biallelic variants caused Hemophagocytic lymphohistiocytosis, familial, 3, whereas heterozygous variants in this gene have been associated with increased risk of lymphoma in PMID: 30758854, and with childhood leukemia in PMID 21370424.
Haematological malignancies cancer susceptibility v1.14 UNC13D Ellen McDonagh Mode of inheritance for gene: UNC13D was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Haematological malignancies cancer susceptibility v1.13 STXBP2 Ellen McDonagh Phenotypes for gene: STXBP2 were changed from risk of lymphoma; Hemophagocytic lymphohistiocytosis, familial, 5 613101 to risk of lymphoma; predisposition to acute lymphoblastic leukemia (ALL); Hemophagocytic lymphohistiocytosis, familial, 5 613101
Haematological malignancies cancer susceptibility v1.12 STXBP2 Ellen McDonagh Publications for gene STXBP2 were changed from 23100279 to 23100279; 24827398
Haematological malignancies cancer susceptibility v1.11 STXBP2 Ellen McDonagh Classified gene: STXBP2 as Amber List (moderate evidence)
Haematological malignancies cancer susceptibility v1.11 STXBP2 Ellen McDonagh Added comment: Comment on list classification: Promoted to Amber for review.
Haematological malignancies cancer susceptibility v1.11 STXBP2 Ellen McDonagh Gene: stxbp2 has been classified as Amber List (Moderate Evidence).
Haematological malignancies cancer susceptibility v1.10 STXBP2 Ellen McDonagh gene: STXBP2 was added
gene: STXBP2 was added to Haematological malignancies cancer susceptibility. Sources: Expert list,Literature
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP2 were set to 23100279
Phenotypes for gene: STXBP2 were set to risk of lymphoma; Hemophagocytic lymphohistiocytosis, familial, 5 613101
Added comment: Gene on a list submitted by Clare Turnbull.
Sources: Expert list, Literature
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ZNF469 Duncan Baker reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 TNXB Duncan Baker reviewed gene: TNXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 TGFBR2 Duncan Baker reviewed gene: TGFBR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 TGFBR1 Duncan Baker reviewed gene: TGFBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 TGFB3 Duncan Baker reviewed gene: TGFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 TGFB2 Duncan Baker reviewed gene: TGFB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SMAD3 Duncan Baker reviewed gene: SMAD3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SMAD2 Duncan Baker reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SLC39A13 Duncan Baker reviewed gene: SLC39A13: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SKI Duncan Baker reviewed gene: SKI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ROBO3 Duncan Baker reviewed gene: ROBO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 RIN2 Duncan Baker reviewed gene: RIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 PYCR1 Duncan Baker reviewed gene: PYCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 PRDM5 Duncan Baker reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 PLOD1 Duncan Baker reviewed gene: PLOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 LTBP4 Duncan Baker reviewed gene: LTBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 LOX Duncan Baker reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 GORAB Duncan Baker reviewed gene: GORAB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 FKBP14 Duncan Baker reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 FBN2 Duncan Baker reviewed gene: FBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 FBN1 Duncan Baker reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 FBLN5 Duncan Baker reviewed gene: FBLN5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ELN Duncan Baker reviewed gene: ELN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 EFEMP2 Duncan Baker reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 DSE Duncan Baker reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL6A3 Duncan Baker reviewed gene: COL6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL6A2 Duncan Baker reviewed gene: COL6A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL6A1 Duncan Baker reviewed gene: COL6A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL5A2 Duncan Baker reviewed gene: COL5A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL5A1 Duncan Baker reviewed gene: COL5A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL3A1 Duncan Baker reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL1A2 Duncan Baker reviewed gene: COL1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL1A1 Duncan Baker reviewed gene: COL1A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL12A1 Duncan Baker reviewed gene: COL12A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 CHST14 Duncan Baker reviewed gene: CHST14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 CBS Duncan Baker reviewed gene: CBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 C1S Duncan Baker reviewed gene: C1S: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 C1R Duncan Baker reviewed gene: C1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 BGN Duncan Baker reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 B4GALT7 Duncan Baker reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 B3GALT6 Duncan Baker reviewed gene: B3GALT6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ATP7A Duncan Baker reviewed gene: ATP7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ATP6V1A Duncan Baker reviewed gene: ATP6V1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ATP6V0A2 Duncan Baker reviewed gene: ATP6V0A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ALDH18A1 Duncan Baker reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 AEBP1 Duncan Baker reviewed gene: AEBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ADAMTS2 Duncan Baker reviewed gene: ADAMTS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.43 ABCC6 Duncan Baker edited their review of gene: ABCC6: Added comment: Following discussion with Dr G Sobey & Dr F van Dijk - rate red; Changed phenotypes: Pseudoxanthoma elasticum OMIM 264800
Ehlers Danlos syndrome with a likely monogenic cause v1.43 GGCX Duncan Baker edited their review of gene: GGCX: Added comment: Following discussion with Dr G Sobey & Dr F van Dijk - rate red; Changed phenotypes: Pseudoxanthoma elasticum-like disorder
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL11A2 Duncan Baker edited their review of gene: COL11A2: Changed phenotypes: autosomal dominant otospondylomegaepiphyseal dysplasia OMIM 184840, autosomal recessive otospondylomegaepiphyseal dysplasia OMIM 215150
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL11A1 Duncan Baker edited their review of gene: COL11A1: Changed phenotypes: Marshal syndrome, Stickler syndrome, type II 604841
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL2A1 Duncan Baker edited their review of gene: COL2A1: Changed phenotypes: Stickler syndrome
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL9A3 Duncan Baker edited their review of gene: COL9A3: Changed phenotypes: Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969, Multiple epiphyseal dysplasia; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL9A2 Duncan Baker edited their review of gene: COL9A2: Changed phenotypes: ?Stickler syndrome, type V614284, Epiphyseal dysplasia, multiple, 2 600204, Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL9A1 Duncan Baker edited their review of gene: COL9A1: Changed phenotypes: Stickler syndrome, type IV 614134, ocular, auditory, skeletal, and orofacial abnormalities.Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts.
Ehlers Danlos syndrome with a likely monogenic cause v1.43 NOTCH1 Duncan Baker commented on gene: NOTCH1: Following discussion with Dr Diana Johnson - rate red
Ehlers Danlos syndrome with a likely monogenic cause v1.43 SMAD4 Duncan Baker edited their review of gene: SMAD4: Changed phenotypes: juvenile polyposis syndrome (JP) and hereditary hemorrhagic telangiectasia (HHT), ~20% with connective tissue features.
Ehlers Danlos syndrome with a likely monogenic cause v1.43 MYLK Duncan Baker edited their review of gene: MYLK: Changed phenotypes: aortic dissection with or without aortic aneurysm
Haematological malignancies cancer susceptibility v1.9 UNC13D Ellen McDonagh Classified gene: UNC13D as Amber List (moderate evidence)
Haematological malignancies cancer susceptibility v1.9 UNC13D Ellen McDonagh Added comment: Comment on list classification: Promoted to Amber for review.
Haematological malignancies cancer susceptibility v1.9 UNC13D Ellen McDonagh Gene: unc13d has been classified as Amber List (Moderate Evidence).
Haematological malignancies cancer susceptibility v1.8 STX11 Ellen McDonagh Classified gene: STX11 as Amber List (moderate evidence)
Haematological malignancies cancer susceptibility v1.8 STX11 Ellen McDonagh Added comment: Comment on list classification: Promoted to Amber for review.
Haematological malignancies cancer susceptibility v1.8 STX11 Ellen McDonagh Gene: stx11 has been classified as Amber List (Moderate Evidence).
Haematological malignancies cancer susceptibility v1.7 STX11 Ellen McDonagh Publications for gene STX11 were changed from 16582076 to 16582076; 26176172
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ZNF469 Eleanor Williams reviewed gene: ZNF469: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 TNXB Eleanor Williams reviewed gene: TNXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 TGFBR2 Eleanor Williams reviewed gene: TGFBR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 TGFBR1 Eleanor Williams reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 TGFB3 Eleanor Williams reviewed gene: TGFB3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 TGFB2 Eleanor Williams reviewed gene: TGFB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SMAD3 Eleanor Williams reviewed gene: SMAD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SMAD2 Eleanor Williams reviewed gene: SMAD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SLC39A13 Eleanor Williams reviewed gene: SLC39A13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SKI Eleanor Williams reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ROBO3 Eleanor Williams reviewed gene: ROBO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 RIN2 Eleanor Williams reviewed gene: RIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 PYCR1 Eleanor Williams reviewed gene: PYCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 PRDM5 Eleanor Williams reviewed gene: PRDM5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 PLOD1 Eleanor Williams reviewed gene: PLOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 LTBP4 Eleanor Williams reviewed gene: LTBP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 LOX Eleanor Williams reviewed gene: LOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 GORAB Eleanor Williams reviewed gene: GORAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 FKBP14 Eleanor Williams reviewed gene: FKBP14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 FBN2 Eleanor Williams reviewed gene: FBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 FBN1 Eleanor Williams reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 FBLN5 Eleanor Williams reviewed gene: FBLN5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ELN Eleanor Williams reviewed gene: ELN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 EFEMP2 Eleanor Williams reviewed gene: EFEMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 DSE Eleanor Williams reviewed gene: DSE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL6A3 Eleanor Williams reviewed gene: COL6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL6A2 Eleanor Williams reviewed gene: COL6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL6A1 Eleanor Williams reviewed gene: COL6A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL5A2 Eleanor Williams reviewed gene: COL5A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL5A1 Eleanor Williams reviewed gene: COL5A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL3A1 Eleanor Williams reviewed gene: COL3A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL1A2 Eleanor Williams reviewed gene: COL1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL1A1 Eleanor Williams reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL12A1 Eleanor Williams reviewed gene: COL12A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 CHST14 Eleanor Williams reviewed gene: CHST14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 CBS Eleanor Williams reviewed gene: CBS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 C1S Eleanor Williams reviewed gene: C1S: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 C1R Eleanor Williams reviewed gene: C1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 BGN Eleanor Williams reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 B4GALT7 Eleanor Williams reviewed gene: B4GALT7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 B3GALT6 Eleanor Williams reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ATP7A Eleanor Williams reviewed gene: ATP7A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ATP6V1A Eleanor Williams reviewed gene: ATP6V1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ATP6V0A2 Eleanor Williams reviewed gene: ATP6V0A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ALDH18A1 Eleanor Williams reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 AEBP1 Eleanor Williams reviewed gene: AEBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ADAMTS2 Eleanor Williams reviewed gene: ADAMTS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 ABCC6 Eleanor Williams reviewed gene: ABCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 GGCX Eleanor Williams reviewed gene: GGCX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL11A2 Eleanor Williams reviewed gene: COL11A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL11A1 Eleanor Williams reviewed gene: COL11A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL2A1 Eleanor Williams reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL9A3 Eleanor Williams reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL9A2 Eleanor Williams reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL9A1 Eleanor Williams reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 NOTCH1 Eleanor Williams reviewed gene: NOTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 SMAD4 Eleanor Williams reviewed gene: SMAD4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 MYLK Eleanor Williams reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Haematological malignancies cancer susceptibility v1.6 STX11 Ellen McDonagh gene: STX11 was added
gene: STX11 was added to Haematological malignancies cancer susceptibility. Sources: Expert list,Literature
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX11 were set to 16582076
Phenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4 603552
Added comment: This gene was present on a list submitted by Clare Turnbull. PMID: 16582076: Two of the six patients harbouring STX11 gene defects developed myelodysplastic syndrome (MDS) or acute myelogenous leukaemia (AML).
Sources: Expert list, Literature
Haematological malignancies cancer susceptibility v1.5 UNC13D Ellen McDonagh Publications for gene UNC13D were changed from 30758854; 24309606; 21370424 to 30758854; 24309606; 21370424; 24827398
Haematological malignancies cancer susceptibility v1.4 UNC13D Ellen McDonagh gene: UNC13D was added
gene: UNC13D was added to Haematological malignancies cancer susceptibility. Sources: Expert list,Literature
Mode of inheritance for gene: UNC13D was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UNC13D were set to 30758854; 24309606; 21370424
Phenotypes for gene: UNC13D were set to Increased risk of lymphoma; predisposition to childhood anaplastic large cell lymphoma; predisposition to leukemia; increased susceptibility to malignancy
Added comment: Gene on a gene list submitted by Clare Turnbull.
Sources: Expert list, Literature
Retinal disorders v1.137 CWC27 Ivone Leong reviewed gene: CWC27: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Retinal disorders v1.137 SRD5A3 Ivone Leong reviewed gene: SRD5A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Sarcoma cancer susceptibility v1.8 EXT2 Ellen McDonagh commented on gene: EXT2
Sarcoma cancer susceptibility v1.8 EXT1 Ellen McDonagh commented on gene: EXT1
Sarcoma cancer susceptibility v1.8 EXT2 Ellen McDonagh gene: EXT2 was added
gene: EXT2 was added to Sarcoma cancer susceptibility. Sources: Other,Expert Review Amber
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXT2 were set to 29529714; 23770606; 27636706; 7726168
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2
Sarcoma cancer susceptibility v1.8 EXT1 Ellen McDonagh gene: EXT1 was added
gene: EXT1 was added to Sarcoma cancer susceptibility. Sources: Other,Expert Review Amber
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXT1 were set to 23770606; 10441575; 29529714
Phenotypes for gene: EXT1 were set to Chondrosarcoma 215300
Retinal disorders v1.137 CWC27 Ivone Leong gene: CWC27 was added
gene: CWC27 was added to Retinal disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: CWC27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWC27 were set to 28285769
Phenotypes for gene: CWC27 were set to Retinitis pigmentosa with or without skeletal anomalies, 250410
Retinal disorders v1.137 SRD5A3 Ivone Leong gene: SRD5A3 was added
gene: SRD5A3 was added to Retinal disorders. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SRD5A3 were set to 28253385; 30019980; 24433453
Phenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Retinal disorders v1.137 ZNF513 Ivone Leong Source NHS GMS was added to ZNF513.
Retinal disorders v1.137 WT1 Ivone Leong Source NHS GMS was added to WT1.
Retinal disorders v1.137 WFS1 Ivone Leong Source NHS GMS was added to WFS1.
Retinal disorders v1.137 WASF3 Ivone Leong Source NHS GMS was added to WASF3.
Retinal disorders v1.137 VSX2 Ivone Leong Source NHS GMS was added to VSX2.
Retinal disorders v1.137 VAX1 Ivone Leong Source NHS GMS was added to VAX1.
Retinal disorders v1.137 UNC119 Ivone Leong Source NHS GMS was added to UNC119.
Retinal disorders v1.137 UBAP1L Ivone Leong Source NHS GMS was added to UBAP1L.
Retinal disorders v1.137 TYRP1 Ivone Leong Source NHS GMS was added to TYRP1.
Retinal disorders v1.137 TYR Ivone Leong Source NHS GMS was added to TYR.
Retinal disorders v1.137 TTLL5 Ivone Leong Source NHS GMS was added to TTLL5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TTC21B Ivone Leong Source NHS GMS was added to TTC21B.
Retinal disorders v1.137 TPP1 Ivone Leong Source NHS GMS was added to TPP1.
Retinal disorders v1.137 TMEM67 Ivone Leong Source NHS GMS was added to TMEM67.
Retinal disorders v1.137 TMEM216 Ivone Leong Source NHS GMS was added to TMEM216.
Retinal disorders v1.137 TMEM126A Ivone Leong Source NHS GMS was added to TMEM126A.
Retinal disorders v1.137 TIMM8A Ivone Leong Source NHS GMS was added to TIMM8A.
Retinal disorders v1.137 TEX28 Ivone Leong Source NHS GMS was added to TEX28.
Retinal disorders v1.137 TEAD1 Ivone Leong Source NHS GMS was added to TEAD1.
Retinal disorders v1.137 TCTN3 Ivone Leong Source NHS GMS was added to TCTN3.
Retinal disorders v1.137 TCTN2 Ivone Leong Source NHS GMS was added to TCTN2.
Retinal disorders v1.137 TCTN1 Ivone Leong Source NHS GMS was added to TCTN1.
Retinal disorders v1.137 STRA6 Ivone Leong Source NHS GMS was added to STRA6.
Retinal disorders v1.137 SPG7 Ivone Leong Source NHS GMS was added to SPG7.
Retinal disorders v1.137 SOX2 Ivone Leong Source NHS GMS was added to SOX2.
Retinal disorders v1.137 SMOC1 Ivone Leong Source NHS GMS was added to SMOC1.
Retinal disorders v1.137 SLC7A14 Ivone Leong Source NHS GMS was added to SLC7A14.
Retinal disorders v1.137 SLC45A2 Ivone Leong Source NHS GMS was added to SLC45A2.
Retinal disorders v1.137 SLC37A3 Ivone Leong Source NHS GMS was added to SLC37A3.
Retinal disorders v1.137 SLC24A5 Ivone Leong Source NHS GMS was added to SLC24A5.
Retinal disorders v1.137 ROM1 Ivone Leong Source NHS GMS was added to ROM1.
Retinal disorders v1.137 RIMS1 Ivone Leong Source NHS GMS was added to RIMS1.
Retinal disorders v1.137 RGS9BP Ivone Leong Source NHS GMS was added to RGS9BP.
Retinal disorders v1.137 RCBTB1 Ivone Leong Source NHS GMS was added to RCBTB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RB1 Ivone Leong Source NHS GMS was added to RB1.
Retinal disorders v1.137 PRTFDC1 Ivone Leong Source NHS GMS was added to PRTFDC1.
Retinal disorders v1.137 PPT1 Ivone Leong Source NHS GMS was added to PPT1.
Retinal disorders v1.137 POMZP3 Ivone Leong Source NHS GMS was added to POMZP3.
Retinal disorders v1.137 PODNL1 Ivone Leong Source NHS GMS was added to PODNL1.
Retinal disorders v1.137 POC1B Ivone Leong Source NHS GMS was added to POC1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PLD4 Ivone Leong Source NHS GMS was added to PLD4.
Retinal disorders v1.137 PITX3 Ivone Leong Source NHS GMS was added to PITX3.
Retinal disorders v1.137 PITX2 Ivone Leong Source NHS GMS was added to PITX2.
Retinal disorders v1.137 PITPNM3 Ivone Leong Source NHS GMS was added to PITPNM3.
Retinal disorders v1.137 PDZD7 Ivone Leong Source NHS GMS was added to PDZD7.
Retinal disorders v1.137 PDE6H Ivone Leong Source NHS GMS was added to PDE6H.
Retinal disorders v1.137 PDAP1 Ivone Leong Source NHS GMS was added to PDAP1.
Retinal disorders v1.137 PAX6 Ivone Leong Source NHS GMS was added to PAX6.
Retinal disorders v1.137 P3H2 Ivone Leong Source NHS GMS was added to P3H2.
Retinal disorders v1.137 OR2M7 Ivone Leong Source NHS GMS was added to OR2M7.
Retinal disorders v1.137 OPN1MW Ivone Leong Source NHS GMS was added to OPN1MW.
Retinal disorders v1.137 OPN1LW Ivone Leong Source NHS GMS was added to OPN1LW.
Retinal disorders v1.137 OPA3 Ivone Leong Source NHS GMS was added to OPA3.
Retinal disorders v1.137 OPA1 Ivone Leong Source NHS GMS was added to OPA1.
Retinal disorders v1.137 OCA2 Ivone Leong Source NHS GMS was added to OCA2.
Retinal disorders v1.137 NUMB Ivone Leong Source NHS GMS was added to NUMB.
Retinal disorders v1.137 NR2F1 Ivone Leong Source NHS GMS was added to NR2F1.
Retinal disorders v1.137 NEK2 Ivone Leong Source NHS GMS was added to NEK2.
Retinal disorders v1.137 NAALADL1 Ivone Leong Source NHS GMS was added to NAALADL1.
Retinal disorders v1.137 MYOC Ivone Leong Source NHS GMS was added to MYOC.
Retinal disorders v1.137 MVK Ivone Leong Source NHS GMS was added to MVK.
Retinal disorders v1.137 MTTP Ivone Leong Source NHS GMS was added to MTTP.
Retinal disorders v1.137 MT-TL1 Ivone Leong Source NHS GMS was added to MT-TL1.
Retinal disorders v1.137 MT-ND6 Ivone Leong Source NHS GMS was added to MT-ND6.
Retinal disorders v1.137 MT-ND4 Ivone Leong Source NHS GMS was added to MT-ND4.
Retinal disorders v1.137 MT-ND1 Ivone Leong Source NHS GMS was added to MT-ND1.
Retinal disorders v1.137 MT-ATP6 Ivone Leong Source NHS GMS was added to MT-ATP6.
Retinal disorders v1.137 MFSD8 Ivone Leong Source NHS GMS was added to MFSD8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MFN2 Ivone Leong Source NHS GMS was added to MFN2.
Retinal disorders v1.137 LRP2 Ivone Leong Source NHS GMS was added to LRP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LRMDA Ivone Leong Source NHS GMS was added to LRMDA.
Retinal disorders v1.137 KIZ Ivone Leong Source NHS GMS was added to KIZ.
Retinal disorders v1.137 KIF7 Ivone Leong Source NHS GMS was added to KIF7.
Retinal disorders v1.137 KIAA1549 Ivone Leong Source NHS GMS was added to KIAA1549.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KCTD7 Ivone Leong Source NHS GMS was added to KCTD7.
Retinal disorders v1.137 ITM2B Ivone Leong Source NHS GMS was added to ITM2B.
Retinal disorders v1.137 ITIH2 Ivone Leong Source NHS GMS was added to ITIH2.
Retinal disorders v1.137 IRX5 Ivone Leong Source NHS GMS was added to IRX5.
Retinal disorders v1.137 INVS Ivone Leong Source NHS GMS was added to INVS.
Retinal disorders v1.137 HTRA1 Ivone Leong Source NHS GMS was added to HTRA1.
Retinal disorders v1.137 HMCN1 Ivone Leong Source NHS GMS was added to HMCN1.
Retinal disorders v1.137 HCCS Ivone Leong Source NHS GMS was added to HCCS.
Retinal disorders v1.137 GRN Ivone Leong Source NHS GMS was added to GRN.
Retinal disorders v1.137 GRIP1 Ivone Leong Source NHS GMS was added to GRIP1.
Retinal disorders v1.137 GP1BA Ivone Leong Source NHS GMS was added to GP1BA.
Retinal disorders v1.137 GDF6 Ivone Leong Source NHS GMS was added to GDF6.
Retinal disorders v1.137 FUT5 Ivone Leong Source NHS GMS was added to FUT5.
Retinal disorders v1.137 FSCN2 Ivone Leong Source NHS GMS was added to FSCN2.
Retinal disorders v1.137 FREM2 Ivone Leong Source NHS GMS was added to FREM2.
Retinal disorders v1.137 FREM1 Ivone Leong Source NHS GMS was added to FREM1.
Retinal disorders v1.137 FRAS1 Ivone Leong Source NHS GMS was added to FRAS1.
Retinal disorders v1.137 FOXI2 Ivone Leong Source NHS GMS was added to FOXI2.
Retinal disorders v1.137 FOXE3 Ivone Leong Source NHS GMS was added to FOXE3.
Retinal disorders v1.137 FOXC1 Ivone Leong Source NHS GMS was added to FOXC1.
Retinal disorders v1.137 FBLN5 Ivone Leong Source NHS GMS was added to FBLN5.
Retinal disorders v1.137 FAM71A Ivone Leong Source NHS GMS was added to FAM71A.
Retinal disorders v1.137 FAM57B Ivone Leong Source NHS GMS was added to FAM57B.
Retinal disorders v1.137 EMC1 Ivone Leong Source NHS GMS was added to EMC1.
Retinal disorders v1.137 DTHD1 Ivone Leong Source NHS GMS was added to DTHD1.
Retinal disorders v1.137 DHX38 Ivone Leong Source NHS GMS was added to DHX38.
Retinal disorders v1.137 CYP27A1 Ivone Leong Source NHS GMS was added to CYP27A1.
Retinal disorders v1.137 CYP1B1 Ivone Leong Source NHS GMS was added to CYP1B1.
Retinal disorders v1.137 CUBN Ivone Leong Source NHS GMS was added to CUBN.
Retinal disorders v1.137 CTSD Ivone Leong Source NHS GMS was added to CTSD.
Retinal disorders v1.137 CROCC Ivone Leong Source NHS GMS was added to CROCC.
Retinal disorders v1.137 COL9A2 Ivone Leong Source NHS GMS was added to COL9A2.
Retinal disorders v1.137 COL9A1 Ivone Leong Source NHS GMS was added to COL9A1.
Retinal disorders v1.137 COL2A1 Ivone Leong Source NHS GMS was added to COL2A1.
Retinal disorders v1.137 COL18A1 Ivone Leong Source NHS GMS was added to COL18A1.
Retinal disorders v1.137 COL11A2 Ivone Leong Source NHS GMS was added to COL11A2.
Retinal disorders v1.137 COL11A1 Ivone Leong Source NHS GMS was added to COL11A1.
Retinal disorders v1.137 CLN8 Ivone Leong Source NHS GMS was added to CLN8.
Retinal disorders v1.137 CLN6 Ivone Leong Source NHS GMS was added to CLN6.
Retinal disorders v1.137 CLN5 Ivone Leong Source NHS GMS was added to CLN5.
Retinal disorders v1.137 CFH Ivone Leong Source NHS GMS was added to CFH.
Retinal disorders v1.137 CFB Ivone Leong Source NHS GMS was added to CFB.
Retinal disorders v1.137 CEP41 Ivone Leong Source NHS GMS was added to CEP41.
Retinal disorders v1.137 CCZ1B Ivone Leong Source NHS GMS was added to CCZ1B.
Retinal disorders v1.137 CACNA2D4 Ivone Leong Source NHS GMS was added to CACNA2D4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C5orf42 Ivone Leong Source NHS GMS was added to C5orf42.
Retinal disorders v1.137 C3 Ivone Leong Source NHS GMS was added to C3.
Retinal disorders v1.137 C2 Ivone Leong Source NHS GMS was added to C2.
Retinal disorders v1.137 BMP4 Ivone Leong Source NHS GMS was added to BMP4.
Retinal disorders v1.137 BCOR Ivone Leong Source NHS GMS was added to BCOR.
Retinal disorders v1.137 BBIP1 Ivone Leong Source NHS GMS was added to BBIP1.
Retinal disorders v1.137 B3GLCT Ivone Leong Source NHS GMS was added to B3GLCT.
Retinal disorders v1.137 ATP13A2 Ivone Leong Source NHS GMS was added to ATP13A2.
Retinal disorders v1.137 ARMS2 Ivone Leong Source NHS GMS was added to ARMS2.
Retinal disorders v1.137 ARL13B Ivone Leong Source NHS GMS was added to ARL13B.
Retinal disorders v1.137 AMN Ivone Leong Source NHS GMS was added to AMN.
Retinal disorders v1.137 ADGRA3 Ivone Leong Source NHS GMS was added to ADGRA3.
Retinal disorders v1.137 ACBD5 Ivone Leong Source NHS GMS was added to ACBD5.
Retinal disorders v1.137 HK1 Ivone Leong Source NHS GMS was added to HK1.
Retinal disorders v1.137 CYP2R1 Ivone Leong Source NHS GMS was added to CYP2R1.
Retinal disorders v1.137 ZNF423 Ivone Leong Source NHS GMS was added to ZNF423.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ZNF408 Ivone Leong Source NHS GMS was added to ZNF408.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 WDR19 Ivone Leong Source NHS GMS was added to WDR19.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 WDPCP Ivone Leong Source NHS GMS was added to WDPCP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 VPS13B Ivone Leong Source NHS GMS was added to VPS13B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 VCAN Ivone Leong Source NHS GMS was added to VCAN.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 USH2A Ivone Leong Source NHS GMS was added to USH2A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 USH1G Ivone Leong Source NHS GMS was added to USH1G.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 USH1C Ivone Leong Source NHS GMS was added to USH1C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TULP1 Ivone Leong Source NHS GMS was added to TULP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TUB Ivone Leong Source NHS GMS was added to TUB.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TTC8 Ivone Leong Source NHS GMS was added to TTC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TSPAN12 Ivone Leong Source NHS GMS was added to TSPAN12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TRPM1 Ivone Leong Source NHS GMS was added to TRPM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TRIM32 Ivone Leong Source NHS GMS was added to TRIM32.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TOPORS Ivone Leong Source NHS GMS was added to TOPORS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TMEM237 Ivone Leong Source NHS GMS was added to TMEM237.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 TIMP3 Ivone Leong Source NHS GMS was added to TIMP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SPATA7 Ivone Leong Source NHS GMS was added to SPATA7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SNRNP200 Ivone Leong Source NHS GMS was added to SNRNP200.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SLC38A8 Ivone Leong Source NHS GMS was added to SLC38A8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SLC24A1 Ivone Leong Source NHS GMS was added to SLC24A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SEMA4A Ivone Leong Source NHS GMS was added to SEMA4A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SDCCAG8 Ivone Leong Source NHS GMS was added to SDCCAG8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SCAPER Ivone Leong Source NHS GMS was added to SCAPER.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 SAG Ivone Leong Source NHS GMS was added to SAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RS1 Ivone Leong Source NHS GMS was added to RS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RPGRIP1L Ivone Leong Source NHS GMS was added to RPGRIP1L.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RPGRIP1 Ivone Leong Source NHS GMS was added to RPGRIP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RPGR Ivone Leong Source NHS GMS was added to RPGR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RPE65 Ivone Leong Source NHS GMS was added to RPE65.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RP9 Ivone Leong Source NHS GMS was added to RP9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RP2 Ivone Leong Source NHS GMS was added to RP2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RP1L1 Ivone Leong Source NHS GMS was added to RP1L1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RP1 Ivone Leong Source NHS GMS was added to RP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RLBP1 Ivone Leong Source NHS GMS was added to RLBP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RHO Ivone Leong Source NHS GMS was added to RHO.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RGS9 Ivone Leong Source NHS GMS was added to RGS9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RGR Ivone Leong Source NHS GMS was added to RGR.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RDH5 Ivone Leong Source NHS GMS was added to RDH5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RDH12 Ivone Leong Source NHS GMS was added to RDH12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RD3 Ivone Leong Source NHS GMS was added to RD3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RBP4 Ivone Leong Source NHS GMS was added to RBP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RBP3 Ivone Leong Source NHS GMS was added to RBP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RAX2 Ivone Leong Source NHS GMS was added to RAX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 RAB28 Ivone Leong Source NHS GMS was added to RAB28.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPS1 Ivone Leong Source NHS GMS was added to PRPS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPH2 Ivone Leong Source NHS GMS was added to PRPH2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF8 Ivone Leong Source NHS GMS was added to PRPF8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF6 Ivone Leong Source NHS GMS was added to PRPF6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF4 Ivone Leong Source NHS GMS was added to PRPF4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF31 Ivone Leong Source NHS GMS was added to PRPF31.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRPF3 Ivone Leong Source NHS GMS was added to PRPF3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PROM1 Ivone Leong Source NHS GMS was added to PROM1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PRCD Ivone Leong Source NHS GMS was added to PRCD.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PLA2G5 Ivone Leong Source NHS GMS was added to PLA2G5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PHYH Ivone Leong Source NHS GMS was added to PHYH.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PEX7 Ivone Leong Source NHS GMS was added to PEX7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PEX2 Ivone Leong Source NHS GMS was added to PEX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PEX1 Ivone Leong Source NHS GMS was added to PEX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PDE6G Ivone Leong Source NHS GMS was added to PDE6G.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PDE6C Ivone Leong Source NHS GMS was added to PDE6C.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PDE6B Ivone Leong Source NHS GMS was added to PDE6B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PDE6A Ivone Leong Source NHS GMS was added to PDE6A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PCYT1A Ivone Leong Source NHS GMS was added to PCYT1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PCDH15 Ivone Leong Source NHS GMS was added to PCDH15.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 PANK2 Ivone Leong Source NHS GMS was added to PANK2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 OTX2 Ivone Leong Source NHS GMS was added to OTX2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 OFD1 Ivone Leong Source NHS GMS was added to OFD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 OAT Ivone Leong Source NHS GMS was added to OAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NYX Ivone Leong Source NHS GMS was added to NYX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NRL Ivone Leong Source NHS GMS was added to NRL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NR2E3 Ivone Leong Source NHS GMS was added to NR2E3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NPHP4 Ivone Leong Source NHS GMS was added to NPHP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NPHP3 Ivone Leong Source NHS GMS was added to NPHP3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NPHP1 Ivone Leong Source NHS GMS was added to NPHP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NMNAT1 Ivone Leong Source NHS GMS was added to NMNAT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 NDP Ivone Leong Source NHS GMS was added to NDP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MYO7A Ivone Leong Source NHS GMS was added to MYO7A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MKS1 Ivone Leong Source NHS GMS was added to MKS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MKKS Ivone Leong Source NHS GMS was added to MKKS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MFRP Ivone Leong Source NHS GMS was added to MFRP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MERTK Ivone Leong Source NHS GMS was added to MERTK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 MAK Ivone Leong Source NHS GMS was added to MAK.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LZTFL1 Ivone Leong Source NHS GMS was added to LZTFL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LRP5 Ivone Leong Source NHS GMS was added to LRP5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LRIT3 Ivone Leong Source NHS GMS was added to LRIT3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LRAT Ivone Leong Source NHS GMS was added to LRAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 LCA5 Ivone Leong Source NHS GMS was added to LCA5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KLHL7 Ivone Leong Source NHS GMS was added to KLHL7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KIF11 Ivone Leong Source NHS GMS was added to KIF11.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KCNV2 Ivone Leong Source NHS GMS was added to KCNV2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 KCNJ13 Ivone Leong Source NHS GMS was added to KCNJ13.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IQCB1 Ivone Leong Source NHS GMS was added to IQCB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 INPP5E Ivone Leong Source NHS GMS was added to INPP5E.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IMPG2 Ivone Leong Source NHS GMS was added to IMPG2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IMPG1 Ivone Leong Source NHS GMS was added to IMPG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IMPDH1 Ivone Leong Source NHS GMS was added to IMPDH1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IFT140 Ivone Leong Source NHS GMS was added to IFT140.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 IDH3B Ivone Leong Source NHS GMS was added to IDH3B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 HMX1 Ivone Leong Source NHS GMS was added to HMX1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 HGSNAT Ivone Leong Source NHS GMS was added to HGSNAT.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 HARS Ivone Leong Source NHS GMS was added to HARS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GUCY2D Ivone Leong Source NHS GMS was added to GUCY2D.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GUCA1B Ivone Leong Source NHS GMS was added to GUCA1B.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GUCA1A Ivone Leong Source NHS GMS was added to GUCA1A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GRM6 Ivone Leong Source NHS GMS was added to GRM6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GRK1 Ivone Leong Source NHS GMS was added to GRK1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GPR179 Ivone Leong Source NHS GMS was added to GPR179.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GPR143 Ivone Leong Source NHS GMS was added to GPR143.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GNPTG Ivone Leong Source NHS GMS was added to GNPTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GNAT2 Ivone Leong Source NHS GMS was added to GNAT2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 GNAT1 Ivone Leong Source NHS GMS was added to GNAT1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 FZD4 Ivone Leong Source NHS GMS was added to FZD4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 FLVCR1 Ivone Leong Source NHS GMS was added to FLVCR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 FAM161A Ivone Leong Source NHS GMS was added to FAM161A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 EYS Ivone Leong Source NHS GMS was added to EYS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ERCC8 Ivone Leong Source NHS GMS was added to ERCC8.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ERCC6 Ivone Leong Source NHS GMS was added to ERCC6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ELOVL4 Ivone Leong Source NHS GMS was added to ELOVL4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 EFEMP1 Ivone Leong Source NHS GMS was added to EFEMP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 DHDDS Ivone Leong Source NHS GMS was added to DHDDS.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CYP4V2 Ivone Leong Source NHS GMS was added to CYP4V2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CTNNB1 Ivone Leong Source NHS GMS was added to CTNNB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CSPP1 Ivone Leong Source NHS GMS was added to CSPP1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CRX Ivone Leong Source NHS GMS was added to CRX.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CRB1 Ivone Leong Source NHS GMS was added to CRB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 COL4A1 Ivone Leong Source NHS GMS was added to COL4A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNNM4 Ivone Leong Source NHS GMS was added to CNNM4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNGB3 Ivone Leong Source NHS GMS was added to CNGB3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNGB1 Ivone Leong Source NHS GMS was added to CNGB1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNGA3 Ivone Leong Source NHS GMS was added to CNGA3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CNGA1 Ivone Leong Source NHS GMS was added to CNGA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CLRN1 Ivone Leong Source NHS GMS was added to CLRN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CLN3 Ivone Leong Source NHS GMS was added to CLN3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CIB2 Ivone Leong Source NHS GMS was added to CIB2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CHM Ivone Leong Source NHS GMS was added to CHM.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CERKL Ivone Leong Source NHS GMS was added to CERKL.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CEP78 Ivone Leong Source NHS GMS was added to CEP78.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CEP290 Ivone Leong Source NHS GMS was added to CEP290.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CEP164 Ivone Leong Source NHS GMS was added to CEP164.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CDHR1 Ivone Leong Source NHS GMS was added to CDHR1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CDH3 Ivone Leong Source NHS GMS was added to CDH3.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CDH23 Ivone Leong Source NHS GMS was added to CDH23.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CC2D2A Ivone Leong Source NHS GMS was added to CC2D2A.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CAPN5 Ivone Leong Source NHS GMS was added to CAPN5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CACNA1F Ivone Leong Source NHS GMS was added to CACNA1F.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CABP4 Ivone Leong Source NHS GMS was added to CABP4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 CA4 Ivone Leong Source NHS GMS was added to CA4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C8orf37 Ivone Leong Source NHS GMS was added to C8orf37.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C2orf71 Ivone Leong Source NHS GMS was added to C2orf71.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C21orf2 Ivone Leong Source NHS GMS was added to C21orf2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 C1QTNF5 Ivone Leong Source NHS GMS was added to C1QTNF5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BEST1 Ivone Leong Source NHS GMS was added to BEST1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS9 Ivone Leong Source NHS GMS was added to BBS9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS7 Ivone Leong Source NHS GMS was added to BBS7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS5 Ivone Leong Source NHS GMS was added to BBS5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS4 Ivone Leong Source NHS GMS was added to BBS4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS2 Ivone Leong Source NHS GMS was added to BBS2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS12 Ivone Leong Source NHS GMS was added to BBS12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS10 Ivone Leong Source NHS GMS was added to BBS10.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 BBS1 Ivone Leong Source NHS GMS was added to BBS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ATOH7 Ivone Leong Source NHS GMS was added to ATOH7.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ATF6 Ivone Leong Source NHS GMS was added to ATF6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ARL6 Ivone Leong Source NHS GMS was added to ARL6.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ARL2BP Ivone Leong Source NHS GMS was added to ARL2BP.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ARHGEF18 Ivone Leong Source NHS GMS was added to ARHGEF18.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ALMS1 Ivone Leong Source NHS GMS was added to ALMS1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 AIPL1 Ivone Leong Source NHS GMS was added to AIPL1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 AHI1 Ivone Leong Source NHS GMS was added to AHI1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 AGBL5 Ivone Leong Source NHS GMS was added to AGBL5.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ADGRV1 Ivone Leong Source NHS GMS was added to ADGRV1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ADAMTS18 Ivone Leong Source NHS GMS was added to ADAMTS18.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ADAM9 Ivone Leong Source NHS GMS was added to ADAM9.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ACO2 Ivone Leong Source NHS GMS was added to ACO2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ABHD12 Ivone Leong Source NHS GMS was added to ABHD12.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 ABCA4 Ivone Leong Source NHS GMS was added to ABCA4.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Retinal disorders v1.137 WHRN Ivone Leong Source NHS GMS was added to WHRN.
Retinal disorders v1.136 SLC37A3 Ivone Leong Mode of inheritance for gene: SLC37A3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.135 SLC37A3 Ivone Leong Classified gene: SLC37A3 as Amber List (moderate evidence)
Retinal disorders v1.135 SLC37A3 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. There is only one case (PMID: 28041643), therefore, there is currently not enough evidence to promote this gene to green status.
Retinal disorders v1.135 SLC37A3 Ivone Leong Gene: slc37a3 has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.134 SLC37A3 Ivone Leong Phenotypes for gene: SLC37A3 were changed from Retinitis pigmentosa to Retinitis pigmentosa; No OMIM entry
Retinal disorders v1.133 PDE6H Ivone Leong Classified gene: PDE6H as Amber List (moderate evidence)
Retinal disorders v1.133 PDE6H Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. PDE6H is associated with a phenotype in OMIM and is probably associated with a phenotype in Gene2Phenotype. There is currently only 1 case reporting on 2 siblings with retinal cone dystrophy who has a variant in PDE6H (PMID: 15629837). Therefore, there is currently not enough evidence to support promoting this gene to a green status.
Retinal disorders v1.133 PDE6H Ivone Leong Gene: pde6h has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.132 PDE6H Ivone Leong Publications for gene: PDE6H were set to 15629837; 22901948
Retinal disorders v1.131 PDE6H Ivone Leong Publications for gene: PDE6H were set to 15629837
Retinal disorders v1.130 PDE6H Ivone Leong Publications for gene: PDE6H were set to
Fetal anomalies v0.152 COL6A2 Rebecca Foulger commented on gene: COL6A2: COL6A2 was added to the panel from the Additional PAGE list, where it is listed with both monoallelic and biallelic inheritance and Confirmed DD-G2P ratings for both. In OMIM, inheritance is listed as 'AR and AD' for both 'Bethlem myopathy 1, 158810' and 'Ullrich congenital muscular dystrophy 1, 254090'
Retinal disorders v1.129 MFSD8 Ivone Leong Classified gene: MFSD8 as Green List (high evidence)
Retinal disorders v1.129 MFSD8 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. MFSD8 is associated with a phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases of patients with different variants in this gene. Therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.129 MFSD8 Ivone Leong Gene: mfsd8 has been classified as Green List (High Evidence).
Childhood onset hereditary spastic paraplegia v1.3 ZFYVE27 Louise Daugherty Added phenotypes Spastic paraplegia 33, autosomal dominant for gene: ZFYVE27
Childhood onset hereditary spastic paraplegia v1.3 VPS37A Louise Daugherty Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A
Childhood onset hereditary spastic paraplegia v1.3 VAMP1 Louise Daugherty Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Childhood onset hereditary spastic paraplegia v1.3 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Childhood onset hereditary spastic paraplegia v1.3 SLC33A1 Louise Daugherty Added phenotypes Spastic paraplegia 42, autosomal dominant, for gene: SLC33A1
Childhood onset hereditary spastic paraplegia v1.3 RAB3GAP2 Louise Daugherty Added phenotypes spastic paraplegia for gene: RAB3GAP2
Childhood onset hereditary spastic paraplegia v1.3 PSEN1 Louise Daugherty Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques for gene: PSEN1
Childhood onset hereditary spastic paraplegia v1.3 PCDH12 Louise Daugherty Added phenotypes microcephaly; perithalamic hyperechogenicity; midbrain abnormalities; intellectual disability; epilepsy; periventricular hyperechogenicity; hypothalamic abnormalities for gene: PCDH12
Childhood onset hereditary spastic paraplegia v1.3 MTPAP Louise Daugherty Added phenotypes Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive for gene: MTPAP
Childhood onset hereditary spastic paraplegia v1.3 MARS2 Louise Daugherty Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2
Childhood onset hereditary spastic paraplegia v1.3 KLC4 Louise Daugherty Added phenotypes spastic paraplegia; progressive complicated spastic paraplegia for gene: KLC4
Childhood onset hereditary spastic paraplegia v1.3 KIF1C Louise Daugherty Added phenotypes Spastic ataxia 2,autosomal recessive for gene: KIF1C
Publications for gene KIF1C were changed from 17273843; 24482476; 24319291 to 24482476; 17273843; 24319291
Childhood onset hereditary spastic paraplegia v1.3 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2
Childhood onset hereditary spastic paraplegia v1.3 GAD1 Louise Daugherty Added phenotypes Cerebralpalsy,spasticquadriplegic,1,603513 for gene: GAD1
Childhood onset hereditary spastic paraplegia v1.3 ENTPD1 Louise Daugherty Added phenotypes Spasticparaplegia64,615683 for gene: ENTPD1
Childhood onset hereditary spastic paraplegia v1.3 DSTYK Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750 for gene: DSTYK
Childhood onset hereditary spastic paraplegia v1.3 CCT5 Louise Daugherty Added phenotypes Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia for gene: CCT5
Childhood onset hereditary spastic paraplegia v1.3 AP5Z1 Louise Daugherty Added phenotypes Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive for gene: AP5Z1
Childhood onset hereditary spastic paraplegia v1.3 AMPD2 Louise Daugherty Added phenotypes Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) for gene: AMPD2
Childhood onset hereditary spastic paraplegia v1.3 REEP2 Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2
Childhood onset hereditary spastic paraplegia v1.3 MAG Louise Daugherty Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG
Publications for gene MAG were changed from 24482476; 26179919 to 26179919; 24482476
Childhood onset hereditary spastic paraplegia v1.3 LYST Louise Daugherty Added phenotypes spastic paraplegia; Chediak-Higashi syndrome, 214500 for gene: LYST
Publications for gene LYST were changed from 24521565; 26307451; 25519960; 25519961 to 24521565; 26307451; 25519961; 25519960
Childhood onset hereditary spastic paraplegia v1.3 KDM5C Louise Daugherty Added phenotypes Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C
Publications for gene KDM5C were changed from 26919706; 15586325; 10982473 to 10982473; 26919706; 15586325
Childhood onset hereditary spastic paraplegia v1.3 IBA57 Louise Daugherty Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Childhood onset hereditary spastic paraplegia v1.3 HSPD1 Louise Daugherty Added phenotypes Spastic paraplegia 13, autosomal dominant, 605280 for gene: HSPD1
Childhood onset hereditary spastic paraplegia v1.3 GCH1 Louise Daugherty Added phenotypes Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dystonia; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1
Publications for gene GCH1 were changed from 21935284; 24509643 to 24509643; 21935284
Childhood onset hereditary spastic paraplegia v1.3 DARS Louise Daugherty Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Publications for gene DARS were changed from 25527264; 23643384 to 23643384; 25527264
Childhood onset hereditary spastic paraplegia v1.3 CDK16 Louise Daugherty Added phenotypes Intellectual disability and spastic paraplegia for gene: CDK16
Childhood onset hereditary spastic paraplegia v1.3 CAPN1 Louise Daugherty Added phenotypes Spastic paraplegia 76 autosomal recessive, 616907 for gene: CAPN1
Childhood onset hereditary spastic paraplegia v1.3 SLC2A1 Louise Daugherty Added phenotypes spastic paraplegia; seizure; Dystonia 9, 601042; Developmental delay; paroxysmal choreoathetosis for gene: SLC2A1
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 NT5C2 Louise Daugherty Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162 for gene: NT5C2
Publications for gene NT5C2 were changed from 29123918; 28884889; 24482476; 28327087 to 28327087; 28884889; 24482476; 29123918
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 HACE1 Louise Daugherty Added phenotypes Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Spastic paraplegia; seizure; psychomotor retardation for gene: HACE1
Publications for gene HACE1 were changed from 26437029; 26424145 to 26424145; 26437029
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 ERLIN1 Louise Daugherty Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 CYP27A1 Louise Daugherty Added phenotypes Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness for gene: CYP27A1
Publications for gene CYP27A1 were changed from 25862734; 26874936; 28623566; 27455001; 29321515 to 25862734; 27455001; 26874936; 29321515; 28623566
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 ATP13A2 Louise Daugherty Added phenotypes Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 ARG1 Louise Daugherty Added phenotypes Progressive spastic tetraplegia; Argininaemia, 207800 for gene: ARG1
Publications for gene ARG1 were changed from 26310552; 23859858; 2365823; 1463019 to 2365823; 23859858; 1463019; 26310552
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 ABCD1 Louise Daugherty Added phenotypes spastic paraparesis; VLCFA accumulation; adrenal failure; Hereditary spastic paraplegia for gene: ABCD1
Publications for gene ABCD1 were changed from 11810273; 27084228; 11739809; 26049658; 23664929 to 23664929; 11739809; 26049658; 27084228; 11810273
Rating Changed from Green List (high evidence) to Green List (high evidence)
Childhood onset hereditary spastic paraplegia v1.3 ZFYVE26 Louise Daugherty Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Childhood onset hereditary spastic paraplegia v1.3 WDR45B Louise Daugherty Added phenotypes profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Childhood onset hereditary spastic paraplegia v1.3 WASHC5 Louise Daugherty Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563 for gene: WASHC5
Childhood onset hereditary spastic paraplegia v1.3 TUBB4A Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 6 612438; ataxia; Dystonia 4, torsion, autosomal dominant 128101 for gene: TUBB4A
Childhood onset hereditary spastic paraplegia v1.3 SPG7 Louise Daugherty Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Childhood onset hereditary spastic paraplegia v1.3 SPG21 Louise Daugherty Added phenotypes Spastic Paraplegia, Recessive; Mast syndrome, 248900 for gene: SPG21
Childhood onset hereditary spastic paraplegia v1.3 SPG11 Louise Daugherty Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360 for gene: SPG11
Publications for gene SPG11 were changed from 17322883; 16699786 to 16699786; 17322883
Childhood onset hereditary spastic paraplegia v1.3 SPAST Louise Daugherty Added phenotypes Spastic paraplegia 4, autosomal dominant for gene: SPAST
Childhood onset hereditary spastic paraplegia v1.3 SPART Louise Daugherty Added phenotypes Troyer syndrome, 275900 for gene: SPART
Childhood onset hereditary spastic paraplegia v1.3 SLC25A46 Louise Daugherty Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
Childhood onset hereditary spastic paraplegia v1.3 SLC1A4 Louise Daugherty Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
Publications for gene SLC1A4 were changed from 25930971; 26041762; 29989513; 26138499; 27193218 to 26138499; 25930971; 26041762; 27193218; 29989513
Childhood onset hereditary spastic paraplegia v1.3 SLC16A2 Louise Daugherty Added phenotypes Allan-Herndon-Dudley syndrome, 300523 for gene: SLC16A2
Childhood onset hereditary spastic paraplegia v1.3 SERAC1 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739; MEGDEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDHEL syndrome for gene: SERAC1
Publications for gene SERAC1 were changed from 27186703; 28482397; 27604308; 28778788; 29205472; 22683713; 16527507 to 27604308; 29205472; 27186703; 28482397; 28778788; 22683713; 16527507
Childhood onset hereditary spastic paraplegia v1.3 SACS Louise Daugherty Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS
Childhood onset hereditary spastic paraplegia v1.3 RTN2 Louise Daugherty Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2
Childhood onset hereditary spastic paraplegia v1.3 REEP1 Louise Daugherty Added phenotypes Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Childhood onset hereditary spastic paraplegia v1.3 POLR3A Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Autosomal Recessive Ataxia for gene: POLR3A
Publications for gene POLR3A were changed from 21855841; 25655951 to 25655951; 21855841
Childhood onset hereditary spastic paraplegia v1.3 PNPLA6 Louise Daugherty Added phenotypes Spastic paraplegia 39, autosomal recessive, 612020 for gene: PNPLA6
Childhood onset hereditary spastic paraplegia v1.3 PLP1 Louise Daugherty Added phenotypes Spastic paraplegia 2, X-linked, 312920 for gene: PLP1
Childhood onset hereditary spastic paraplegia v1.3 OPA3 Louise Daugherty Added phenotypes 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome for gene: OPA3
Publications for gene OPA3 were changed from 25201222; 11668429; 20301646; 24944951; 25657044 to 11668429; 24944951; 25201222; 25657044; 20301646
Childhood onset hereditary spastic paraplegia v1.3 NKX6-2 Louise Daugherty Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Childhood onset hereditary spastic paraplegia v1.3 NIPA1 Louise Daugherty Added phenotypes Spastic paraplegia 6,autosomal dominant, 600363 for gene: NIPA1
Publications for gene NIPA1 were changed from 14508710; 15711826 to 15711826; 14508710
Childhood onset hereditary spastic paraplegia v1.3 L1CAM Louise Daugherty Added phenotypes Hereditary spastic paraplegia; X-linked hydrocephalus, MASA syndrome, 303350 for gene: L1CAM
Childhood onset hereditary spastic paraplegia v1.3 KIF5A Louise Daugherty Added phenotypes Spastic paraplegia 10, autosomal dominant, 604187 for gene: KIF5A
Childhood onset hereditary spastic paraplegia v1.3 KIF1A Louise Daugherty Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357 for gene: KIF1A
Childhood onset hereditary spastic paraplegia v1.3 KIDINS220 Louise Daugherty Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296 for gene: KIDINS220
Childhood onset hereditary spastic paraplegia v1.3 GBA2 Louise Daugherty Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Childhood onset hereditary spastic paraplegia v1.3 FARS2 Louise Daugherty Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046 for gene: FARS2
Publications for gene FARS2 were changed from 29126765; 26553276; 25851414; 30250868 to 26553276; 30250868; 25851414; 29126765
Childhood onset hereditary spastic paraplegia v1.3 FA2H Louise Daugherty Added phenotypes Spastic paraplegia 35, autosomal recessive, 612319 for gene: FA2H
Childhood onset hereditary spastic paraplegia v1.3 ERLIN2 Louise Daugherty Added phenotypes Spastic paraplegia, autosomal dominant; Spastic paraplegia 18, autosomal recessive, 611225; hereditary spastic paraplegia; neurodegeneration for gene: ERLIN2
Publications for gene ERLIN2 were changed from 27824013; 23085305; 21330303; 23109142; 28832565; 23897027; 22554690; 25977983; 23109145; 21796390; 29528531 to 23109145; 22554690; 23085305; 27824013; 29528531; 23109142; 28832565; 21330303; 23897027; 21796390; 25977983
Childhood onset hereditary spastic paraplegia v1.3 DDHD2 Louise Daugherty Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Childhood onset hereditary spastic paraplegia v1.3 DDHD1 Louise Daugherty Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Childhood onset hereditary spastic paraplegia v1.3 CYP7B1 Louise Daugherty Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1
Childhood onset hereditary spastic paraplegia v1.3 CYP2U1 Louise Daugherty Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Childhood onset hereditary spastic paraplegia v1.3 C19orf12 Louise Daugherty Added phenotypes Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Childhood onset hereditary spastic paraplegia v1.3 C12orf65 Louise Daugherty Added phenotypes Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65
Childhood onset hereditary spastic paraplegia v1.3 BSCL2 Louise Daugherty Added phenotypes Silver spastic paraplegia syndrome, 270685 for gene: BSCL2
Publications for gene BSCL2 were changed from 14981520; 13680364 to 13680364; 14981520
Childhood onset hereditary spastic paraplegia v1.3 B4GALNT1 Louise Daugherty Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Childhood onset hereditary spastic paraplegia v1.3 ATL1 Louise Daugherty Added phenotypes Spastic paraplegia 3A, autosomal dominant,182600; Spastic Paraplegia, Dominant for gene: ATL1
Childhood onset hereditary spastic paraplegia v1.3 AP4S1 Louise Daugherty Added phenotypes developmental delay; seizures; Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Childhood onset hereditary spastic paraplegia v1.3 AP4M1 Louise Daugherty Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Childhood onset hereditary spastic paraplegia v1.3 AP4E1 Louise Daugherty Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744 for gene: AP4E1
Childhood onset hereditary spastic paraplegia v1.3 AP4B1 Louise Daugherty Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1
Childhood onset hereditary spastic paraplegia v1.3 ALS2 Louise Daugherty Added phenotypes Spastic paralysis, infantile onset ascending, 607225 for gene: ALS2
Childhood onset hereditary spastic paraplegia v1.3 ALDH18A1 Louise Daugherty Added phenotypes Spastic paraplegia 9B, autosomal recessive, 616586; SPG9; Spastic paraplegia 9A, autosomal dominant, 601162; 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 for gene: ALDH18A1
Childhood onset hereditary spastic paraplegia v1.3 AIMP1 Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 3, 260600 for gene: AIMP1
Childhood onset hereditary spastic paraplegia v1.3 AFG3L2 Louise Daugherty Added phenotypes Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive, 614487 for gene: AFG3L2
Childhood onset hereditary spastic paraplegia v1.3 ADAR Louise Daugherty Added phenotypes Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR
Retinal disorders v1.128 MFSD8 Ivone Leong Publications for gene: MFSD8 were set to
Retinal disorders v1.127 LRP2 Ivone Leong Classified gene: LRP2 as Green List (high evidence)
Retinal disorders v1.127 LRP2 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. LRP2 is associated with a Donnai-Barrow syndrome in OMIM and Gene2Phenotype. Retinal dystrophy is listed as one of the phenotypes in Gene2Phenotype for this gene. There are also >3 unrelated cases of patients with Donnai-Barrow syndrome. Therefore, there is sufficient evidence to promote this gene to green status.
Retinal disorders v1.127 LRP2 Ivone Leong Gene: lrp2 has been classified as Green List (High Evidence).
Retinal disorders v1.126 LRP2 Ivone Leong Publications for gene: LRP2 were set to
Retinal disorders v1.125 TTLL5 Ivone Leong Classified gene: TTLL5 as Green List (high evidence)
Retinal disorders v1.125 TTLL5 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. There are >3 unrelated cases of patients with retinal dystrophy who have different variants in this gene. Therefore, it was decided that there is enough evidence to promote this gene to green status.
Retinal disorders v1.125 TTLL5 Ivone Leong Gene: ttll5 has been classified as Green List (High Evidence).
Retinal disorders v1.124 TTLL5 Ivone Leong Publications for gene: TTLL5 were set to 24791901
Retinal disorders v1.123 TTLL5 Ivone Leong Mode of inheritance for gene: TTLL5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.122 TTLL5 Ivone Leong Publications for gene: TTLL5 were set to
Retinal disorders v1.121 RCBTB1 Ivone Leong Classified gene: RCBTB1 as Green List (high evidence)
Retinal disorders v1.121 RCBTB1 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. RCBTB1 is associated with a phenotype in OMIM but not in Gene2Phenotype.
PMID: 27486781 reported on two unrelated Taiwanese families with heterozygous frameshift variants that are suspected to be associated with Familial exudative vitreoretinopathy.
PMID: 27486781 reported on 6 unrelated families (Turkish, Italian, Greek, Algerian and Chinese) affected by retinal dystrophy with different homozygous variants in the RCBTB1 gene. Therefore, it was decided that there is enough evidence to promote this gene to green status.
Retinal disorders v1.121 RCBTB1 Ivone Leong Gene: rcbtb1 has been classified as Green List (High Evidence).
Retinal disorders v1.120 RCBTB1 Ivone Leong Mode of inheritance for gene: RCBTB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Proteinuric renal disease v1.85 FAT1 Eleanor Williams Classified gene: FAT1 as Green List (high evidence)
Proteinuric renal disease v1.85 FAT1 Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green. Despite concerns about possible variants in other genes in some pedigrees, and lower renal phenotype penetrance in others, it was considered that there is sufficient pedigrees and strong enough functional data to rate this gene green.
Proteinuric renal disease v1.85 FAT1 Eleanor Williams Gene: fat1 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.84 FAT1 Eleanor Williams commented on gene: FAT1: After consultation with the GMS Renal Specialist Test group and comment from Moin Saleem, it was decided that there were enough patients from different pedigrees with nephrotic range proteinuria with rare FAT1 variants compatible with AR inheritance and that the biology is strong, as the KO mice get very severe nephrosis, and expression at the podocyte slit diaphragm, so that this gene should be rated green.
Fetal anomalies v0.152 STAT1 Rebecca Foulger commented on gene: STAT1: STAT1 was originally added to the Fetal anomalies panel, based on inclusion in the PAGE list. However, at the time of curation and review (April 2nd 2019), STAT1 is not listed on the DD-Gene2Phenotype panel.
Common craniosynostosis syndromes v0.3 TWIST1 Eleanor Williams reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.3 TCF12 Eleanor Williams reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.3 FGFR3 Eleanor Williams reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.3 FGFR2 Eleanor Williams reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.3 FGFR1 Eleanor Williams reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.3 ERF Eleanor Williams reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Common craniosynostosis syndromes v0.3 EFNB1 Eleanor Williams reviewed gene: EFNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Retinal disorders v1.119 RCBTB1 Ivone Leong Publications for gene: RCBTB1 were set to 26908610
Common craniosynostosis syndromes v0.2 TWIST1 Eleanor Williams gene: TWIST1 was added
gene: TWIST1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: TWIST1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Common craniosynostosis syndromes v0.2 TCF12 Eleanor Williams gene: TCF12 was added
gene: TCF12 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: TCF12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TCF12 were set to Craniosynostosis 3 615314
Common craniosynostosis syndromes v0.2 FGFR3 Eleanor Williams gene: FGFR3 was added
gene: FGFR3 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Common craniosynostosis syndromes v0.2 FGFR2 Eleanor Williams gene: FGFR2 was added
gene: FGFR2 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: FGFR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Common craniosynostosis syndromes v0.2 FGFR1 Eleanor Williams gene: FGFR1 was added
gene: FGFR1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Common craniosynostosis syndromes v0.2 ERF Eleanor Williams gene: ERF was added
gene: ERF was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: ERF was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ERF were set to Chitayat syndrome 617180; Craniosynostosis 4 600775
Common craniosynostosis syndromes v0.2 EFNB1 Eleanor Williams gene: EFNB1 was added
gene: EFNB1 was added to Common craniosynostosis syndromes. Sources: Expert Review Green,Expert list,NHS GMS
Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: EFNB1 were set to Craniofrontonasal dysplasia 304110
Retinal disorders v1.118 RCBTB1 Ivone Leong Phenotypes for gene: RCBTB1 were changed from familial exudative vitreoretinopathy; Coats disease to familial exudative vitreoretinopathy; Coats disease; Retinal dystrophy with or without extraocular anomalies, 617175
Retinal disorders v1.117 RCBTB1 Ivone Leong Publications for gene: RCBTB1 were set to PMID: 26908610
Retinal disorders v1.116 POC1B Ivone Leong Classified gene: POC1B as Green List (high evidence)
Retinal disorders v1.116 POC1B Ivone Leong Added comment: Comment on list classification: Promoted from red to green. POC1B is associated with a phenotype in OMIM and Gene2Phenotype. There are 3 unrelated cases of patients with cone-rod dystrophy who have variants in POC1B gene. Therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.116 POC1B Ivone Leong Gene: poc1b has been classified as Green List (High Evidence).
Retinal disorders v1.115 POC1B Ivone Leong Publications for gene: POC1B were set to
Retinal disorders v1.115 POC1B Ivone Leong Publications for gene: POC1B were set to
Retinal disorders v1.114 POC1B Ivone Leong Mode of inheritance for gene: POC1B was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.113 PDE6H Ivone Leong Phenotypes for gene: PDE6H were changed from Retinal Cone Dystrophy; Achromatopsia 6; Retinal cone dystrophy 3; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy to Retinal Cone Dystrophy 3, 610024; Achromatopsia 6, 610024; Eye Disorders; Achromatopsia, Cone, and Cone-rod Dystrophy
Fetal anomalies v0.152 POLR3A Rebecca Foulger Added comment: Comment on phenotypes: New gene:disorder association added to DDG2P on 27/03/2019 (after expert clinical review of POLR3A on Fetal anomalies panel): Autosomal Recessive Wiedemann Rautenstrauch Syndrome. DDG2P Disease confidence for Wiedemann Rautenstrauch Syndrome: confirmed. DDG2P mode of pathogenicity/mutation consequence for Wiedemann Rautenstrauch Syndrome: loss of function. DDG2P mode of inheritance for Wiedemann Rautenstrauch Syndrome: biallelic.
Fetal anomalies v0.152 POLR3A Rebecca Foulger Phenotypes for gene: POLR3A were changed from LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM to LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; Autosomal Recessive Wiedemann Rautenstrauch Syndrome, 264090
Retinal disorders v1.112 LRP2 Ivone Leong Phenotypes for gene: LRP2 were changed from Donnai-Barrow syndrome to Donnai-Barrow syndrome 222448
Retinal disorders v1.111 KIAA1549 Ivone Leong Classified gene: KIAA1549 as Green List (high evidence)
Retinal disorders v1.111 KIAA1549 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. KIAA1549 is not associated with a phenotype in OMIM or Gene2Phenotype. There are 3 unrelated cases of patients with RP who have variants in this gene. Therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.111 KIAA1549 Ivone Leong Gene: kiaa1549 has been classified as Green List (High Evidence).
Retinal disorders v1.110 KIAA1549 Ivone Leong Publications for gene: KIAA1549 were set to 23105016; 24938718
Retinal disorders v1.109 DHX38 Ivone Leong Classified gene: DHX38 as Amber List (moderate evidence)
Retinal disorders v1.109 DHX38 Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. DHX38 is associated with a phenotype in OMIM but not Gene2Phenotype. PMID: 24737827 reports 4 affected siblings from a consanguineous Pakistani family with early-onset retinitis pigmentosa and macular coloboma who have homozygous c.995G>A variant (G332). No functional studies were performed. PMID: 30208423 reports 2 different consanguineous Pakistani family who have members affected by early-onset retinitis pigmentosa. The authors found that the affected members had homozygous c.971G>A variants (R324Q). No functional studies were performed. Based on this evidence, it was decided that the gene should be promoted to an amber rating.
Retinal disorders v1.109 DHX38 Ivone Leong Gene: dhx38 has been classified as Amber List (Moderate Evidence).
Retinal disorders v1.108 CFH Ivone Leong Phenotypes for gene: CFH were changed from Macular Degeneration to {Macular degeneration, age-related, 4} 610698
Osteogenesis imperfecta v1.17 NUDT6 Eleanor Williams commented on gene: NUDT6: PubMed search did not find any other reports of NUDT6 in association with an Osteogenesis imperfecta phenotype.
Retinal disorders v1.107 DHX38 Ivone Leong Publications for gene: DHX38 were set to
Retinal disorders v1.106 DHX38 Ivone Leong Mode of inheritance for gene: DHX38 was changed from to BIALLELIC, autosomal or pseudoautosomal
Retinal disorders v1.105 DHX38 Ivone Leong Phenotypes for gene: DHX38 were changed from No OMIM disease ID to Retinitis pigmentosa 84, 618220
Retinal disorders v1.104 CACNA2D4 Ivone Leong Classified gene: CACNA2D4 as Green List (high evidence)
Retinal disorders v1.104 CACNA2D4 Ivone Leong Added comment: Comment on list classification: Promoted from red to green. CACNA2D4 is associated with a phenotype in OMIM but not in Gene2Phenotype. There are 3 unrelated cases of patients with retinal cone dystrophy with different variants in CACNA2D4. Therefore, there is enough evidence to promote this gene to green status.
Retinal disorders v1.104 CACNA2D4 Ivone Leong Gene: cacna2d4 has been classified as Green List (High Evidence).
DDG2P v1.9 NR2F2 Rebecca Foulger Added comment: Comment on phenotypes: Updated Phenotype from 'CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779' to 'CONGENITAL HEART DEFECTS and XX sex reversal' to match DD-Gene2Phenotype.
DDG2P v1.9 NR2F2 Rebecca Foulger Phenotypes for gene: NR2F2 were changed from CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4 615779 to Congenital heart defects, multiple types, 4, 615779; CONGENITAL HEART DEFECTS and XX sex reversal
Osteogenesis imperfecta v1.17 NUDT6 Eleanor Williams commented on gene: NUDT6
Retinal disorders v1.103 CACNA2D4 Ivone Leong Publications for gene: CACNA2D4 were set to 17033974
Retinal disorders v1.102 CACNA2D4 Ivone Leong Publications for gene: CACNA2D4 were set to
Retinal disorders v1.101 SEMA4A Ivone Leong Phenotypes for gene: SEMA4A were changed from Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-rod dystrophy 10, 610283Retinitis pigmentosa 35, 610282; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa to Achromatopsia, Cone, and Cone-rod Dystrophy; Eye Disorders; Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282; Retinitis Pigmentosa, Recessive; Retinitis pigmentosa
Osteogenesis imperfecta v1.17 COPB2 Eleanor Williams commented on gene: COPB2
Intellectual disability v2.798 CDK8 Louise Daugherty Phenotypes for gene: CDK8 were changed from to Generalized hypotonia; Feeding difficulties; Global developmental delay; Intellectual disability; Behavioral abnormality; Abnormality of cardiovascular system morphology; Hearing impairment; Abnormality of vision; Anorectal anomaly; Seizures
Intellectual disability v2.797 CDK8 Louise Daugherty Classified gene: CDK8 as Green List (high evidence)
Intellectual disability v2.797 CDK8 Louise Daugherty Added comment: Comment on list classification: Changed from Red to Green. Appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene as Green.
Intellectual disability v2.797 CDK8 Louise Daugherty Gene: cdk8 has been classified as Green List (High Evidence).
Intellectual disability v2.796 CDK8 Louise Daugherty Publications for gene: CDK8 were set to 26350204; 24139904
Intellectual disability v2.795 CDK8 Louise Daugherty Mode of inheritance for gene: CDK8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.794 KDM3B Louise Daugherty Classified gene: KDM3B as Amber List (moderate evidence)
Intellectual disability v2.794 KDM3B Louise Daugherty Added comment: Comment on list classification: Rated gene as Amber based on current information in the literature and external expert review there is not enough evidence to support gene-disease association rating of this gene to Green.
Intellectual disability v2.794 KDM3B Louise Daugherty Gene: kdm3b has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.793 KDM3B Louise Daugherty Phenotypes for gene: KDM3B were changed from to Global developmental delay; Intellectual disability; Short stature; Behavioral abnormality; Seizures
Intellectual disability v2.792 KDM3B Louise Daugherty Mode of inheritance for gene: KDM3B was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.791 KDM3B Louise Daugherty Publications for gene: KDM3B were set to
Intellectual disability v2.790 ARHGEF6 Louise Daugherty Classified gene: ARHGEF6 as Amber List (moderate evidence)
Intellectual disability v2.790 ARHGEF6 Louise Daugherty Added comment: Comment on list classification: demoted from Green to Amber
Intellectual disability v2.790 ARHGEF6 Louise Daugherty Gene: arhgef6 has been classified as Amber List (Moderate Evidence).
Intracerebral calcification disorders v1.15 KIAA1161 Louise Daugherty Classified gene: KIAA1161 as Green List (high evidence)
Intracerebral calcification disorders v1.15 KIAA1161 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Intracerebral calcification disorders v1.15 KIAA1161 Louise Daugherty Gene: kiaa1161 has been classified as Green List (High Evidence).
Intracerebral calcification disorders v1.14 KIAA1161 Louise Daugherty Added comment: Comment on publications: added further publications to support green rating. Arkadir et al. (2019) PMID: 30656188 reported 2 unrelated families of Middle Eastern origin with IBGC7 (Basal ganglia cancification, idiopathic, 7). Forouhideh et al. (2019) PMID: ;30649222 reported 4 sibs, born of consanguineous Turkish parents, with IBGC7.
Intracerebral calcification disorders v1.14 KIAA1161 Louise Daugherty Publications for gene: KIAA1161 were set to 29910000; 30589467
Intracerebral calcification disorders v1.13 KIAA1161 Louise Daugherty Added comment: Comment on phenotypes: added OMIM phenotype
Intracerebral calcification disorders v1.13 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from Primary Familial Brain Calcification to Primary Familial Brain Calcification; Basal ganglia calcification, idiopathic, 7, autosomal recessive, 618317
Intracerebral calcification disorders v1.12 KIAA1161 Louise Daugherty Publications for gene: KIAA1161 were set to PMID: 29910000; 30589467
Intracerebral calcification disorders v1.11 KIAA1161 Louise Daugherty commented on gene: KIAA1161
Intracerebral calcification disorders v1.11 KIAA1161 Louise Daugherty Tag new-gene-name tag was added to gene: KIAA1161.
Arthrogryposis v2.40 ASCC1 Louise Daugherty Classified gene: ASCC1 as Green List (high evidence)
Arthrogryposis v2.40 ASCC1 Louise Daugherty Added comment: Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Arthrogryposis v2.40 ASCC1 Louise Daugherty Gene: ascc1 has been classified as Green List (High Evidence).
Arthrogryposis v2.39 ASCC1 Louise Daugherty Phenotypes for gene: ASCC1 were changed from spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures to Spinal muscular atrophy with congenital bone fractures 2, 616867; Spinal muscular atrophy; arthrogryposis; fetal akinesia; hypotonia; contractures
Arthrogryposis v2.38 ASCC1 Louise Daugherty Publications for gene: ASCC1 were set to PMID: 26924529; 30327447; 28749478
Retinal disorders v1.100 SEMA4A Ivone Leong Publications for gene: SEMA4A were set to
Proteinuric renal disease v1.84 TNS2 Eleanor Williams Phenotypes for gene: TNS2 were changed from to nephrotic syndrome
Proteinuric renal disease v1.83 TNS2 Eleanor Williams Publications for gene: TNS2 were set to
Proteinuric renal disease v1.82 TNS2 Eleanor Williams Mode of inheritance for gene: TNS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.81 TNS2 Eleanor Williams Classified gene: TNS2 as Green List (high evidence)
Proteinuric renal disease v1.81 TNS2 Eleanor Williams Added comment: Comment on list classification: Rating green as there are 4 unrelated families (plus another with possible founder mutation in common with one of the 4) with variants in this gene and a relevant phenotype.
Proteinuric renal disease v1.81 TNS2 Eleanor Williams Gene: tns2 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.80 TNS2 Eleanor Williams commented on gene: TNS2: No association with any phenotype in OMIM or Gene2Phenotype.

PMID : 29773874 - Ashraf et al 2018 - homozygosity mapping combined with whole exome sequencing in multiple families with Nephrotic syndrome. TNS2 variants found in 5 families (1 Turkish, 1 European, 1 Nigerian, 2 Indian). 3 families showed homozygous variants, 2 compound heterozygous. One Indian family was homozygous for a c.2574C>G
p.Ile858Met variant. The other Indian family was compound heterozygous for this variant and another c.1693C>T p.Arg565Trp suggesting that the c.2574C>G variant may be a founder allele. Altered amino acid residues were well conserved throughout evolution
Proteinuric renal disease v1.80 TBC1D8B Eleanor Williams Phenotypes for gene: TBC1D8B were changed from to Steroid-resistant nephrotic syndrome
Proteinuric renal disease v1.79 TBC1D8B Eleanor Williams Publications for gene: TBC1D8B were set to
Proteinuric renal disease v1.78 TBC1D8B Eleanor Williams Added comment: Comment on mode of inheritance: PMID: 30661770 - 2 carrier (heterozygous) females in family A developed proteinuria at age 7 and as an adult (later than males).
Proteinuric renal disease v1.78 TBC1D8B Eleanor Williams Mode of inheritance for gene: TBC1D8B was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuric renal disease v1.77 TBC1D8B Eleanor Williams Mode of inheritance for gene: TBC1D8B was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Proteinuric renal disease v1.76 TBC1D8B Eleanor Williams Classified gene: TBC1D8B as Green List (high evidence)
Proteinuric renal disease v1.76 TBC1D8B Eleanor Williams Added comment: Comment on list classification: 2 unrelated families plus functional evidence
Proteinuric renal disease v1.76 TBC1D8B Eleanor Williams Gene: tbc1d8b has been classified as Green List (High Evidence).
Proteinuric renal disease v1.75 TBC1D8B Eleanor Williams edited their review of gene: TBC1D8B: Added comment: Not listed in OMIM or Gene2Phenotype

PMID: 30661770 - Dorval et al 2019 - by exome sequencing, they identified missense mutations (c.738G>C and c.872T>C) in TBC1D8B in two families with an X-linked early-onset SRNS with FSGS. Immunofluorescence studies revealed TBC1D8B presence in human glomeruli, and affected individual podocytes displayed architectural changes associated with migration defects commonly found in FSGS. In zebrafish they demonstrated that both knockdown and knockout of the unique TBC1D8B ortholog-induced proteinuria and that this phenotype was rescued by human TBC1D8B mRNA injection, but not by either of the two mutated mRNAs. They also showed an interaction between TBC1D8B and Rab11b, a key protein in vesicular recycling in cells.

Family A (Ecuador) - affected females (I-2 and II-2) exhibited non-nephrotic proteinuria, while affected boys (II-1, II-3, and II-4) developed congenital or early-onset NS. Family B (UK) - sporadic SRNS-affected individual (II-2) in family B. The affected individual (II-2), a male from European ancestry presenting with early-onset SRNS at the age of 2 years, had no other systemic features. Both mutations segregated with the affected status in the respective families and were, respectively, present in 1/27,314 (with no hemizygous) and absent from gnomAD database in the population-matched control subjects.; Changed publications: PMID: 30661770
Proteinuric renal disease v1.75 PAX2 Eleanor Williams Phenotypes for gene: PAX2 were changed from to Glomerulosclerosis, focal segmental, 7 #616002
Proteinuric renal disease v1.74 PAX2 Eleanor Williams Publications for gene: PAX2 were set to
Proteinuric renal disease v1.73 PAX2 Eleanor Williams Mode of inheritance for gene: PAX2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Proteinuric renal disease v1.72 PAX2 Eleanor Williams Classified gene: PAX2 as Green List (high evidence)
Proteinuric renal disease v1.72 PAX2 Eleanor Williams Added comment: Comment on list classification: > 3 cases where variants in this gene are associated with a relevant phenotype
Proteinuric renal disease v1.72 PAX2 Eleanor Williams Gene: pax2 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.71 PAX2 Eleanor Williams commented on gene: PAX2: PAX2 is associated with Glomerulosclerosis, focal segmental, 7 (616002) and Papillorenal syndrome (120330) in OMIM.

OMIM list numerous cases of PAX2 variants in patients with Papillorenal Syndrome/Renal coloboma syndrome and with focal segmental glomerulosclerosis-7.

PMID: 26571382 - Okumura et al 2015 - 26 patients with Renal coloboma syndrome were screened. Patients with CHARGE, COACH and Jouberts syndrome were excluded. Analyzed the sequences of PAX2 and 25 other genes in 26 patients clinically diagnosed with RCS, and 4 optic nerve coloboma only patients as disease-negative controls. Six PAX2 mutations (3 frameshifts, 1 nonsense, 2 missense) in 11 probands; two in family cohorts [n = 5 and n = 2] and in 4 out of 19 patients with sporadic disease, including four novel mutations, were confirmed using Sanger sequencing.
Cytopenias and congenital anaemias v1.69 Ellen McDonagh List of related panels changed from Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria; Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria; Congenital anaemias; Early onset pancytopenia and red cell disorders; Anaemias and red cell disorders; Cytopaenias and congenital anaemias to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria; Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria; Congenital anaemias; Early onset pancytopenia and red cell disorders; Anaemias and red cell disorders; Cytopaenias and congenital anaemias; Cytopenia and pancytopenia
Cytopenias and congenital anaemias v1.68 Ellen McDonagh Panel name changed from Cytopaenias and congenital anaemias to Cytopenias and congenital anaemias
List of related panels changed from Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria; Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria; Congenital anaemias; Early onset pancytopenia and red cell disorders; Anaemias and red cell disorders to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria; Apparent aplastic anaemia or paroxysmal nocturnal haemoglobinuria; Congenital anaemias; Early onset pancytopenia and red cell disorders; Anaemias and red cell disorders; Cytopaenias and congenital anaemias
Mitochondrial disorders v1.153 NDUFA1 Ellen McDonagh Publications for gene: NDUFA1 were set to
Mitochondrial disorders v1.152 NDUFA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome.
Mitochondrial disorders v1.152 NDUFA1 Ellen McDonagh Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to 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 v1.54 NDUFA1 Ellen McDonagh Publications for gene: NDUFA1 were set to 27604308
Likely inborn error of metabolism v1.53 NDUFA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome. One study reports a female with a heterozygous variant who developed a very mild form of complex I deficiency due to skewed X inactivation [PMID: 21596602].
Likely inborn error of metabolism v1.53 NDUFA1 Ellen McDonagh Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 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 v1.97 NDUFA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome. One study reports a female with a heterozygous variant who developed a very mild form of complex I deficiency due to skewed X inactivation [PMID: 21596602].
Undiagnosed metabolic disorders v1.97 NDUFA1 Ellen McDonagh Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset dystonia, chorea or related movement disorder v0.45 NDUFA1 Ellen McDonagh Publications for gene: NDUFA1 were set to 28247337; 17262856
Adult onset dystonia, chorea or related movement disorder v0.44 NDUFA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome. There are multiple studies were the heterozygous mother of the affected male proband was unaffected [PMID: 17262856; 19185523]. One study does report a female with a heterozygous variant who developed a very mild form of complex I deficiency due to skewed X inactivation [PMID: 21596602].
Adult onset dystonia, chorea or related movement disorder v0.44 NDUFA1 Ellen McDonagh Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Structural basal ganglia disorders v1.12 NDUFA1 Ellen McDonagh Added comment: Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to X-linked, as encoded on the X-chromosome.
Structural basal ganglia disorders v1.12 NDUFA1 Ellen McDonagh Mode of inheritance for gene: NDUFA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Stickler syndrome v1.26 COL9A3 Ivone Leong Publications for gene: COL9A3 were set to 24273071 and unpublished observation
Corneal dystrophy v0.3 LCAT Morag Shanks reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 2370048, 1859405, 1681161; Phenotypes: ; Mode of inheritance:
Corneal dystrophy v0.3 PRDM5 Morag Shanks reviewed gene: PRDM5: Rating: GREEN; Mode of pathogenicity: ; Publications: 21664999, 22122778; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 ZNF469 Morag Shanks reviewed gene: ZNF469: Rating: GREEN; Mode of pathogenicity: ; Publications: 18452888, 19661234, 20938016; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 STS Morag Shanks reviewed gene: STS: Rating: GREEN; Mode of pathogenicity: ; Publications: 3169744, 9252398, 1539590; Phenotypes: ; Mode of inheritance:
Corneal dystrophy v0.3 GSN Morag Shanks reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: ; Publications: 2153578, 1652889, 8388189; Phenotypes: ; Mode of inheritance:
Corneal dystrophy v0.3 COL17A1 Morag Shanks reviewed gene: COL17A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 14562173, 19710953, 25564336; Phenotypes: ; Mode of inheritance:
Corneal dystrophy v0.3 ZEB1 Morag Shanks reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16252232, 2003649; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 UBIAD1 Morag Shanks reviewed gene: UBIAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 17668063, 17962451, 18176953; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 TGFBI Morag Shanks reviewed gene: TGFBI: Rating: GREEN; Mode of pathogenicity: ; Publications: 17962451, 17668063, 23169578; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 TACSTD2 Morag Shanks reviewed gene: TACSTD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10192395, 17898270; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 SLC4A11 Morag Shanks reviewed gene: SLC4A11: Rating: GREEN; Mode of pathogenicity: ; Publications: 16767101, 16825429; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 PIKFYVE Morag Shanks reviewed gene: PIKFYVE: Rating: GREEN; Mode of pathogenicity: ; Publications: 26396486, 23288988, 15902656; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 OVOL2 Morag Shanks reviewed gene: OVOL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26749309; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 MIR184 Morag Shanks reviewed gene: MIR184: Rating: GREEN; Mode of pathogenicity: ; Publications: 21996275, 25157590, 24138095; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 KRT3 Morag Shanks reviewed gene: KRT3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9171831, 16227835, 188806880; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 KRT12 Morag Shanks reviewed gene: KRT12: Rating: GREEN; Mode of pathogenicity: ; Publications: 9171931, 8759347, 10644419; Phenotypes: ; Mode of inheritance:
Corneal dystrophy v0.3 KERA Morag Shanks reviewed gene: KERA: Rating: GREEN; Mode of pathogenicity: ; Publications: 23834557, 10802664, 11726611; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 GRHL2 Morag Shanks reviewed gene: GRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29499165; Phenotypes: ; Mode of inheritance:
Corneal dystrophy v0.3 DCN Morag Shanks reviewed gene: DCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 15671264, 16935612, 24413633; Phenotypes: ; Mode of inheritance:
Corneal dystrophy v0.3 COL8A2 Morag Shanks reviewed gene: COL8A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11689488; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.3 CHST6 Morag Shanks reviewed gene: CHST6: Rating: GREEN; Mode of pathogenicity: ; Publications: 11017086, 11818380, 15013869; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Corneal dystrophy v0.2 LCAT Ivone Leong gene: LCAT was added
gene: LCAT was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCAT were set to 1859405; 2370048; 1681161
Phenotypes for gene: LCAT were set to Fish-eye disease 136120; Norum disease 245900
Corneal dystrophy v0.2 PRDM5 Ivone Leong gene: PRDM5 was added
gene: PRDM5 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDM5 were set to 22122778; 21664999
Phenotypes for gene: PRDM5 were set to Brittle cornea syndrome 614170
Corneal dystrophy v0.2 ZNF469 Ivone Leong gene: ZNF469 was added
gene: ZNF469 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: ZNF469 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF469 were set to 20938016; 19661234; 18452888
Phenotypes for gene: ZNF469 were set to Brittle cornea syndrome 1 229200
Corneal dystrophy v0.2 STS Ivone Leong gene: STS was added
gene: STS was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: STS were set to 1539590; 3169744; 9252398
Phenotypes for gene: STS were set to Ichthyosis, X-linked
Corneal dystrophy v0.2 GSN Ivone Leong gene: GSN was added
gene: GSN was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: GSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GSN were set to 2153578; 1652889; 8388189
Phenotypes for gene: GSN were set to Amyloidosis, Finnish type 105120
Corneal dystrophy v0.2 COL17A1 Ivone Leong gene: COL17A1 was added
gene: COL17A1 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: COL17A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL17A1 were set to 25564336; 19710953; 14562173
Phenotypes for gene: COL17A1 were set to Epithelial recurrent erosion dystrophy 122400
Corneal dystrophy v0.2 ZEB1 Ivone Leong gene: ZEB1 was added
gene: ZEB1 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZEB1 were set to 2003649; 16252232
Phenotypes for gene: ZEB1 were set to Corneal dystrophy, posterior polymorphous, 3 609141; Corneal dystrophy, Fuchs endothelial, 6 613270
Corneal dystrophy v0.2 UBIAD1 Ivone Leong gene: UBIAD1 was added
gene: UBIAD1 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: UBIAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBIAD1 were set to 17962451; 18176953; 17668063
Phenotypes for gene: UBIAD1 were set to Corneal dystrophy, Schnyder type 121800
Corneal dystrophy v0.2 TGFBI Ivone Leong gene: TGFBI was added
gene: TGFBI was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: TGFBI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TGFBI were set to 17962451; 23169578; 17668063
Phenotypes for gene: TGFBI were set to Corneal dystrophy, Groenouw type I 121900; Corneal dystrophy, Avellino type 607541; Corneal dystrophy, Thiel-Behnke type 602082; Corneal dystrophy, lattice type I 122200; Corneal dystrophy, Reis-Bucklers type 608470; Corneal dystrophy, epithelial basement membrane 121820; Corneal dystrophy, lattice type IIIA 608471
Corneal dystrophy v0.2 TACSTD2 Ivone Leong gene: TACSTD2 was added
gene: TACSTD2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: TACSTD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TACSTD2 were set to 17898270; 10192395
Phenotypes for gene: TACSTD2 were set to Corneal dystrophy, gelatinous drop-like 204870
Corneal dystrophy v0.2 SLC4A11 Ivone Leong gene: SLC4A11 was added
gene: SLC4A11 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: SLC4A11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A11 were set to 16767101; 16825429
Phenotypes for gene: SLC4A11 were set to Corneal dystrophy, Fuchs endothelial, 4 613268; Corneal endothelial dystrophy and perceptive deafness 217400; Corneal endothelial dystrophy, autosomal recessive 217700
Corneal dystrophy v0.2 PIKFYVE Ivone Leong gene: PIKFYVE was added
gene: PIKFYVE was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: PIKFYVE was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PIKFYVE were set to 26396486; 15902656; 23288988
Phenotypes for gene: PIKFYVE were set to Corneal fleck dystrophy 121850
Corneal dystrophy v0.2 OVOL2 Ivone Leong gene: OVOL2 was added
gene: OVOL2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: OVOL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: OVOL2 were set to 26749309
Phenotypes for gene: OVOL2 were set to Corneal dystrophy, posterior polymorphous, 1 122000
Corneal dystrophy v0.2 MIR184 Ivone Leong gene: MIR184 was added
gene: MIR184 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: MIR184 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIR184 were set to 25157590; 21996275; 24138095
Phenotypes for gene: MIR184 were set to EDICT syndrome 614303
Corneal dystrophy v0.2 KRT3 Ivone Leong gene: KRT3 was added
gene: KRT3 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: KRT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT3 were set to 9171831; 188806880; 16227835
Phenotypes for gene: KRT3 were set to Meesmann corneal dystrophy 122100
Corneal dystrophy v0.2 KRT12 Ivone Leong gene: KRT12 was added
gene: KRT12 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: KRT12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KRT12 were set to 9171931; 10644419; 8759347
Phenotypes for gene: KRT12 were set to Meesmann corneal dystrophy 122100
Corneal dystrophy v0.2 KERA Ivone Leong gene: KERA was added
gene: KERA was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KERA were set to 23834557; 11726611; 10802664
Phenotypes for gene: KERA were set to Cornea plana 2 217300
Corneal dystrophy v0.2 GRHL2 Ivone Leong gene: GRHL2 was added
gene: GRHL2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GRHL2 were set to 29499165
Phenotypes for gene: GRHL2 were set to Corneal dystrophy, posterior polymorphous, 4 618031
Corneal dystrophy v0.2 DCN Ivone Leong gene: DCN was added
gene: DCN was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: DCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DCN were set to 24413633; 15671264; 16935612
Phenotypes for gene: DCN were set to Corneal dystrophy, congenital stromal 610048
Corneal dystrophy v0.2 COL8A2 Ivone Leong gene: COL8A2 was added
gene: COL8A2 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: COL8A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: COL8A2 were set to 11689488
Phenotypes for gene: COL8A2 were set to Corneal dystrophy, Fuchs endothelial, 1 136800; Corneal dystrophy, posterior polymorphous 2 609140
Corneal dystrophy v0.2 CHST6 Ivone Leong gene: CHST6 was added
gene: CHST6 was added to Corneal dystrophies. Sources: Wessex and West Midlands GLH,Expert Review Green
Mode of inheritance for gene: CHST6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHST6 were set to 15013869; 11818380; 11017086
Phenotypes for gene: CHST6 were set to Macular corneal dystrophy 217800
Corneal dystrophy v0.1 Ivone Leong Panel status changed from internal to public
Corneal abnormalities v1.7 Ivone Leong Panel name changed from Corneal dystrophy to Corneal abnormalities
List of related panels changed from Corneal abnormalities to Corneal abnormalities; Corneal dystrophy
Panel types changed to Rare Disease 100K
Corneal dystrophy v0.0 Ivone Leong Added Panel Corneal dystrophies
Set panel types to: GMS Rare Disease
Retinal disorders v1.99 KIAA1549 Ivone Leong Publications for gene: KIAA1549 were set to
Retinal disorders v1.98 RP1L1 Ivone Leong Publications for gene: RP1L1 were set to 15563508; 17652713; 15090652
Fetal anomalies v0.151 RTN4IP1 Rebecca Foulger Source Expert Review Red was added to RTN4IP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 RSPO4 Rebecca Foulger Source Expert Review Red was added to RSPO4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 PSMB8 Rebecca Foulger Source Expert Review Red was added to PSMB8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 PRSS12 Rebecca Foulger Source Expert Review Red was added to PRSS12.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 PRRT2 Rebecca Foulger Source Expert Review Red was added to PRRT2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 PRPS1 Rebecca Foulger Source Expert Review Red was added to PRPS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 PROP1 Rebecca Foulger Source Expert Review Red was added to PROP1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 POC1B Rebecca Foulger Source Expert Review Red was added to POC1B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.151 PMS2 Rebecca Foulger Source Expert Review Red was added to PMS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.150 RUNX2 Rebecca Foulger edited their review of gene: RUNX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 RTN4IP1 Rebecca Foulger edited their review of gene: RTN4IP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RTN4IP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 RTEL1 Rebecca Foulger edited their review of gene: RTEL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 RSPO4 Rebecca Foulger edited their review of gene: RSPO4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RSPO4 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 RPS6KA3 Rebecca Foulger edited their review of gene: RPS6KA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 RPS19 Rebecca Foulger edited their review of gene: RPS19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 RPGRIP1L Rebecca Foulger edited their review of gene: RPGRIP1L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 ROR2 Rebecca Foulger edited their review of gene: ROR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Leave inheritance as both monoallelic and biallelic.; Changed rating: GREEN
Fetal anomalies v0.150 PSMB8 Rebecca Foulger edited their review of gene: PSMB8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PSMB8 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 PRSS56 Rebecca Foulger edited their review of gene: PRSS56: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PRSS12 Rebecca Foulger edited their review of gene: PRSS12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PRSS12 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 PRRT2 Rebecca Foulger edited their review of gene: PRRT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes are not structural. Action taken: Demoted PRRT2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 PRPS1 Rebecca Foulger edited their review of gene: PRPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Seems progressive. Action taken: Demoted PRPS1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 PROP1 Rebecca Foulger edited their review of gene: PROP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PROP1 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 PRKD1 Rebecca Foulger edited their review of gene: PRKD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PRKAR1A Rebecca Foulger edited their review of gene: PRKAR1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Would also explain Myxoma, intracardiac (MIM:255960).; Changed rating: GREEN
Fetal anomalies v0.150 POMT2 Rebecca Foulger edited their review of gene: POMT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POMT1 Rebecca Foulger edited their review of gene: POMT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POMGNT2 Rebecca Foulger edited their review of gene: POMGNT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POMGNT1 Rebecca Foulger edited their review of gene: POMGNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POLR3A Rebecca Foulger edited their review of gene: POLR3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POLR1D Rebecca Foulger edited their review of gene: POLR1D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POLR1C Rebecca Foulger edited their review of gene: POLR1C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 POC1B Rebecca Foulger edited their review of gene: POC1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted POC1B gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 POC1A Rebecca Foulger edited their review of gene: POC1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PMS2 Rebecca Foulger edited their review of gene: PMS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Associated with Lynch syndrome, which confers an increased risk of cancers, particularly colorectal cancer. Action taken: Demoted PMS2 gene rating from Green to Red.; Changed rating: RED
Fetal anomalies v0.150 PMM2 Rebecca Foulger edited their review of gene: PMM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PLOD2 Rebecca Foulger edited their review of gene: PLOD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PLOD1 Rebecca Foulger edited their review of gene: PLOD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PLK4 Rebecca Foulger edited their review of gene: PLK4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PKHD1 Rebecca Foulger edited their review of gene: PKHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PKD1L1 Rebecca Foulger edited their review of gene: PKD1L1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PITX3 Rebecca Foulger edited their review of gene: PITX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PITX2 Rebecca Foulger edited their review of gene: PITX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIK3R1 Rebecca Foulger edited their review of gene: PIK3R1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIGV Rebecca Foulger edited their review of gene: PIGV: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIGT Rebecca Foulger edited their review of gene: PIGT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIGO Rebecca Foulger edited their review of gene: PIGO: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIGL Rebecca Foulger edited their review of gene: PIGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIGA Rebecca Foulger edited their review of gene: PIGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PIEZO2 Rebecca Foulger edited their review of gene: PIEZO2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PHGDH Rebecca Foulger edited their review of gene: PHGDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PHF8 Rebecca Foulger edited their review of gene: PHF8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PHF6 Rebecca Foulger edited their review of gene: PHF6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PGM1 Rebecca Foulger edited their review of gene: PGM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
Fetal anomalies v0.150 PGAP3 Rebecca Foulger edited their review of gene: PGAP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Cleft in some patients.; Changed rating: GREEN
Fetal anomalies v0.149 ROR2 Rebecca Foulger commented on gene: ROR2: In the original PAGE file, Mode of Inheritance is recorded as Biallelic for 'ROR2-RELATED DISORDERS AR', and Monoallelic for 'BRACHYDACTYLY, TYPE B1' and 'ROBINOW SYNDROME, AUTOSOMAL DOMINANT'. All three disorders have 'Confirmed' gene:disease associations with 'Loss of function' mode-of-pathogenicity.
Retinal disorders v1.97 CA4 Ivone Leong Publications for gene: CA4 were set to
Retinal disorders v1.96 RP1L1 Ivone Leong Publications for gene: RP1L1 were set to
Proteinuric renal disease v1.71 OCRL Eleanor Williams Phenotypes for gene: OCRL were changed from to LOWE OCULOCEREBRORENAL SYNDROME #309000; Dent disease 2 #300555
Proteinuric renal disease v1.70 OCRL Eleanor Williams Publications for gene: OCRL were set to
Proteinuric renal disease v1.69 OCRL Eleanor Williams Mode of inheritance for gene: OCRL was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuric renal disease v1.68 OCRL Eleanor Williams Classified gene: OCRL as Green List (high evidence)
Proteinuric renal disease v1.68 OCRL Eleanor Williams Added comment: Comment on list classification: More than three families have variants in OCRL and a disease phenotype.
Proteinuric renal disease v1.68 OCRL Eleanor Williams Gene: ocrl has been classified as Green List (High Evidence).
Proteinuric renal disease v1.67 OCRL Eleanor Williams edited their review of gene: OCRL: Added comment: Associated with Dent disease 2 (300555) and Lowe syndrome (309000) in OMIM.

PMID: 21249396 - Tasic et al 2011 - 5 unrelated Macedonian patients with 4 different variants in OCRL. 2 diagnosed with Lowe Syndrome (both with LMWP and hypercalciuria) and 3 with Dent disease 2 (all with asymptomatic proteinuria). All five patients had LMWP and hypercalciuria/


PMID: 17384968 - Sekine et al 2007 - 3 distinct OCRL1 mutations in 3 patients with the Dent disease phenotype are described. All the patients manifested an extremely high degree of low-molecular-weight proteinuria and showed no ocular abnormalities or apparent mental retardation. Urinalysis and blood chemistry showed no findings suggestive of Fanconi syndrome with renal tubular acidosis. Mutations in CLCN5 were ruled out. The mutations identified in OCRL1 are one frame-shift mutation (I127stop) and two missense mutations (R301C and R476W).

PMID: 27625797 - Böckenhauer et al 2012 - 14 CLCN5-negative patients from 12 families with a phenotype resembling Dent disease were assessed for defects in OCRL. In six of these kindreds three novel (c.149+1G>A, c.1126A>T, c.1547T>C) and three repeatedly observed mutations (c.166_167delTT, c.901C>T, c.1426C>T) were discovered. All showed low molecular weight proteinuria.; Changed publications: PMID: 21249396, PMID: 17384968; Changed phenotypes: LOWE OCULOCEREBRORENAL SYNDROME #309000, Dent disease 2 #300555
Intellectual disability v2.789 KDM3B Konstantinos Varvagiannis reviewed gene: KDM3B: Rating: AMBER; Mode of pathogenicity: None; Publications: doi.org/10.1016/j.ajhg.2019.02.023; Phenotypes: Global developmental delay, Intellectual disability, Short stature, Behavioral abnormality, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.789 KDM3B Konstantinos Varvagiannis Deleted their review
Intellectual disability v2.789 KDM3B Konstantinos Varvagiannis Deleted their comment
Intellectual disability v2.789 KDM3B Konstantinos Varvagiannis reviewed gene: KDM3B: Rating: AMBER; Mode of pathogenicity: None; Publications: doi.org/10.1016/j.ajhg.2019.02.023; Phenotypes: Global developmental delay, Intellectual disability, Short stature, Behavioral abnormality, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuric renal disease v1.67 NUP85 Eleanor Williams Publications for gene: NUP85 were set to
Proteinuric renal disease v1.66 NUP85 Eleanor Williams Phenotypes for gene: NUP85 were changed from to Nephrotic syndrome, type 17 #618176
Proteinuric renal disease v1.65 NUP85 Eleanor Williams Mode of inheritance for gene: NUP85 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.64 NUP85 Eleanor Williams Classified gene: NUP85 as Green List (high evidence)
Proteinuric renal disease v1.64 NUP85 Eleanor Williams Added comment: Comment on list classification: 3 families with SRNS and variants in NUP85.
Proteinuric renal disease v1.64 NUP85 Eleanor Williams Gene: nup85 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.63 NUP85 Eleanor Williams commented on gene: NUP85: In OMIM this gene is associated with Nephrotic syndrome, type 17 (618176).

PMID: 30179222 - Braun et al 2018 - 4 individuals from 3 unrelated families with SRNS (families A5195, A3259, and NCR3227/3310) were found to have variants in NUP85 by high-throughput exon sequencing. Two mutations were homozygous missense mutations (c.1430C>T, p.Ala477Val, and c.1933C>T, p.Arg645Trp). One family (NCR3227/3310) carried 2 compound heterozygous alleles (c.405+1G>A and c.1741G>C, p.Ala581Pro), which segregated from the maternal and the paternal side, respectively. All families had SRNS and microscopic hematuria. Family NCR3227/3310 additionally displayed intellectual disability, but showed no structural brain defects.

Functional data - morpholino knockdown of nup85 in Xenopus disrupted glomerulogenesis. Re-expression of WT mRNA, but not of mRNA reflecting mutations from SRNS patients, mitigated this phenotype. We furthermore found that CRISPR/Cas9 knockout of NUP85 in podocytes activated Cdc42, an important effector of SRNS pathogenesis.
Proteinuric renal disease v1.63 ITSN1 Eleanor Williams Phenotypes for gene: ITSN1 were changed from to Early childhood SSNS
Proteinuric renal disease v1.62 ITSN1 Eleanor Williams Publications for gene: ITSN1 were set to
Proteinuric renal disease v1.61 ITSN1 Eleanor Williams Mode of inheritance for gene: ITSN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.60 ITSN1 Eleanor Williams Classified gene: ITSN1 as Green List (high evidence)
Proteinuric renal disease v1.60 ITSN1 Eleanor Williams Added comment: Comment on list classification: 3 families with variants in this gene and a nephrotic syndrome phenotype
Proteinuric renal disease v1.60 ITSN1 Eleanor Williams Gene: itsn1 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.59 ITSN1 Eleanor Williams commented on gene: ITSN1: Not associated with any phenotype in OMIM but last update was in 2007

PMID: 29773874 - Ashraf et al 2018 - 3 unrelated families with rare ITSN1 variants and SRNS/CNS or SSNS. Using HM and WES in two siblings of Arab family A3706 with early-onset NS they identified a homozygous missense mutation of ITSN1 at a highly conserved amino acid residue (p.Pro180Ser). By high-throughput sequencing, they identified two additional families (A977 and A2274) with four additional compound heterozygous missense mutations of ITSN1.
Proteinuric renal disease v1.59 FAT1 Eleanor Williams Phenotypes for gene: FAT1 were changed from to Glomerulotubular nephropathy
Proteinuric renal disease v1.58 FAT1 Eleanor Williams Publications for gene: FAT1 were set to
Proteinuric renal disease v1.57 FAT1 Eleanor Williams Mode of inheritance for gene: FAT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.56 FAT1 Eleanor Williams commented on gene: FAT1: Not associated with any phenotype in OMIM.

PMID: 26905694 - Gee et al 2016. 4 families reported with a variant in FAT1. 27 known genes previously linked to SRNS were screened in these individuals, but no explanatory mutations were detected. All affected individuals exhibited a glomerulotubular nephropathy of SRNS, tubular ectasia and microscopic haematuria among other phenotypes.

Family 1 - A4623, a Turkish boy from consanguineous parents with intellectual disability, pulmonary artery stenosis and bilateral blepharoptosis in early childhood, admitted to the hospital at age 15 years because of proteinuria and haematuria. Kidney biopsy showed a glomerulotubular nephropathy. Following WES and filtering of variants from normal reference sequence, 3 rare variants in FAT1, PIDD and DZIP1 remained. The variant in the FAT1 gene, is a homozygous protein truncating mutation (c.3093_3096del, p.P1032Cfs*11). This variant is classified as a VUS in OMIM.

Family 2 One child of Arab origin (A3027) presented with proteinuria and haematuria. A3027 was diagnosed with Ewing sarcoma, and lung and spinal metastasis at the age of 15 years. Following variant filtering by HM and WES, two rare missense variants in FAT1 and EHD1 remained . Mutations in the 27 known SRNS genes were excluded by evaluation of the WES data. The variant (c.857A>F;p.N286S) in FAT1 is reported as a SNP in the dbSNP database, however, its minor allele frequency is 0.0002 and it never occurred in the homozygous state. The FAT1 variant alters an amino-acid residue conserved throughout evolution down to Drosophila melanogaster.

Families 3 and 4 - When performing highly parallel sequencing of all FAT1 exons in 1,500 additional individuals with features of NS and 800 individuals with features of tubulointerstitial nephroapathy, we detected in 2 additional families. . In a female African-American girl (A789) from non-consanguineous parents, another compound-heterozygous mutation was detected (c.3008C>T, p.A1003V and c.9259C>G, p. R3087G). Further information was not available and segregation analysis was not performed since the girl was lost for follow-up. A3507, an African girl from non-consanguineous parents, showed haematuria and proteinuria at the age of 2 years. One of the compound-heterozygous mutation (c.4517G>A, p.R1506H) was detected in her mother, but not the other. DNA from the father was not available.

Functional studies indicate an absence of FAT1 in patient fibroblasts (from family 1) and decreased migration rates compared to controls. Knockdown of FAT1 in differentiated podocytes showed similarly decreased migration rates, which were associated with decreased active RAC1 and CDC42, implicating a defect in RHO GTPase signaling in the pathogenesis.
Proteinuric renal disease v1.56 EMP2 Eleanor Williams Phenotypes for gene: EMP2 were changed from steroid sensitive nephrotic syndrome to steroid sensitive nephrotic syndrome; Nephrotic syndrome, type 10 #615861
Proteinuric renal disease v1.55 EMP2 Eleanor Williams Classified gene: EMP2 as Green List (high evidence)
Proteinuric renal disease v1.55 EMP2 Eleanor Williams Added comment: Comment on list classification: 3 families with variants in this gene which segregate with the condition, plus some functional data.
Proteinuric renal disease v1.55 EMP2 Eleanor Williams Gene: emp2 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.54 EMP2 Eleanor Williams commented on gene: EMP2: Associated with Nephrotic syndrome, type 10 615861 in OMIM.

PMID 24814193 - Gee et al 2014 - performed homozygosity mapping, whole-exome sequencing, and multiplex PCR followed by next-generation sequencing. They found biallelic mutations in EMP2 (epithelial membrane protein 2) in four individuals from three unrelated families affected by SRNS or SSNS. Consanguineous Turkish family A1679 had a homozygous truncating variant (c.184C>T [p.Gln62∗]) in EMP2 which segregated in the condition. In another Turkish family (A150) the affected individual was compound heterozygous for 2 variants in EMP2 - 21C>G, p.Phe7Leu and
c.184C>T, p.Gln62∗. In a third African-American family (A4601) the proband was homozygous for a missense mutation c.28G>A, p.Ala10Thr. All mutations were absent from >190 ethnically matched healthy control individuals and from >8,600 European control individuals in the NHLBI EVS

Functional studies showed that EMP2 exclusively localized to glomeruli in the kidney. Knockdown of emp2 in zebrafish resulted in pericardial effusion, supporting the pathogenic role of mutated EMP2 in human NS. Knockdown of EMP2 in podocytes and endothelial cells resulted in an increased amount of CAVEOLIN-1 and decreased cell proliferation.
Proteinuric renal disease v1.54 DLC1 Eleanor Williams Phenotypes for gene: DLC1 were changed from to Childhood and adult SSNS and SRNS
Proteinuric renal disease v1.53 DLC1 Eleanor Williams Publications for gene: DLC1 were set to
Proteinuric renal disease v1.52 DLC1 Eleanor Williams Mode of inheritance for gene: DLC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.51 DLC1 Eleanor Williams Classified gene: DLC1 as Red List (low evidence)
Proteinuric renal disease v1.51 DLC1 Eleanor Williams Added comment: Comment on list classification: Plausible disease causing variants found in more than 3 cases.
Proteinuric renal disease v1.51 DLC1 Eleanor Williams Gene: dlc1 has been classified as Red List (Low Evidence).
Proteinuric renal disease v1.50 DLC1 Eleanor Williams commented on gene: DLC1: In OMIM this gene is only associated with Colorectal cancer, somatic, not a relevant phenotype.

PMID: 29773874 -performed homozygosity mapping combined with whole exome sequencing in multiple families with Nephrotic Syndrome. Also performed high-throughput exon sequencing in a worldwide cohort of ~1000 additional families with NS, examining specific candidate genes for NS based on genetic mouse models of NS. We identified recessive mutations of DLC1 in 4 families with NS. 6 different variants. Two individuals were compound heterozygous, two were homozygous. Families of different ethnicities.
Early onset or syndromic epilepsy v1.34 PROSC Chris Buxton commented on gene: PROSC
Possible mitochondrial disorder - nuclear genes v0.132 YME1L1 Ellen McDonagh Classified gene: YME1L1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.132 YME1L1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.132 YME1L1 Ellen McDonagh Gene: yme1l1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.131 TXN2 Ellen McDonagh Classified gene: TXN2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.131 TXN2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.131 TXN2 Ellen McDonagh Gene: txn2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.130 TRMT10C Ellen McDonagh Classified gene: TRMT10C as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.130 TRMT10C Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.130 TRMT10C Ellen McDonagh Gene: trmt10c has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.129 TOP3A Ellen McDonagh Classified gene: TOP3A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.129 TOP3A Ellen McDonagh Added comment: Comment on list classification: The evidence underlying this gene and mitochondrial DNA maintenance disorders was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was agreed that this gene should be demoted from Green to Amber on this panel due to only a single case (compound heterozygous for variants in this gene) being reported Progressive external ophthalmoplegia with mitochondrial DNA deletions.
Possible mitochondrial disorder - nuclear genes v0.129 TOP3A Ellen McDonagh Gene: top3a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.128 TMEM65 Ellen McDonagh Classified gene: TMEM65 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.128 TMEM65 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. PMID: 28295037 reports one case and functional evidence. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.128 TMEM65 Ellen McDonagh Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.127 TIMMDC1 Ellen McDonagh Classified gene: TIMMDC1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.127 TIMMDC1 Ellen McDonagh Added comment: Comment on list classification: Single report of 3 unrelated cases with SAME INTRONIC VARIANT and expression data but no other functional work. Demoted from Green to Amber after discussion on the on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019.
Possible mitochondrial disorder - nuclear genes v0.127 TIMMDC1 Ellen McDonagh Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.126 TIMM22 Ellen McDonagh Classified gene: TIMM22 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.126 TIMM22 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. PMID: 30452684 - one case reported. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.126 TIMM22 Ellen McDonagh Gene: timm22 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.125 TFAM Ellen McDonagh Classified gene: TFAM as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.125 TFAM Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. PMID: 27448789 reports on one kindred. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.125 TFAM Ellen McDonagh Gene: tfam has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.124 TARS2 Ellen McDonagh Classified gene: TARS2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.124 TARS2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.124 TARS2 Ellen McDonagh Gene: tars2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.123 SFXN4 Ellen McDonagh Classified gene: SFXN4 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.123 SFXN4 Ellen McDonagh Added comment: Comment on list classification: Two cases reported in PMID: 24119684. This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.123 SFXN4 Ellen McDonagh Gene: sfxn4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.122 SDHC Ellen McDonagh Classified gene: SDHC as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.122 SDHC Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.122 SDHC Ellen McDonagh Gene: sdhc has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.121 SDHAF4 Ellen McDonagh Classified gene: SDHAF4 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.121 SDHAF4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.121 SDHAF4 Ellen McDonagh Gene: sdhaf4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.120 SDHAF3 Ellen McDonagh Classified gene: SDHAF3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.120 SDHAF3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.120 SDHAF3 Ellen McDonagh Gene: sdhaf3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.119 SDHAF2 Ellen McDonagh Classified gene: SDHAF2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.119 SDHAF2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.119 SDHAF2 Ellen McDonagh Gene: sdhaf2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.118 PTCD3 Ellen McDonagh Classified gene: PTCD3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.118 PTCD3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151). PMID: 30607703 describes one case - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.118 PTCD3 Ellen McDonagh Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.117 PMPCB Ellen McDonagh Classified gene: PMPCB as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.117 PMPCB Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.117 PMPCB Ellen McDonagh Gene: pmpcb has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.116 PET117 Ellen McDonagh Classified gene: PET117 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.116 PET117 Ellen McDonagh Added comment: Comment on list classification: Confirmed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019 that this gene should be Amber on this panel due to the evidence level; only a single family has been published.
Possible mitochondrial disorder - nuclear genes v0.116 PET117 Ellen McDonagh Gene: pet117 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.115 MSTO1 Ellen McDonagh Classified gene: MSTO1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.115 MSTO1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.115 MSTO1 Ellen McDonagh Gene: msto1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.114 MRM2 Ellen McDonagh Classified gene: MRM2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.114 MRM2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151). PMID:28973171 describes one patient and functional evidence - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.114 MRM2 Ellen McDonagh Gene: mrm2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.113 LYRM4 Ellen McDonagh Classified gene: LYRM4 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.113 LYRM4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.113 LYRM4 Ellen McDonagh Gene: lyrm4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.112 ISCU Ellen McDonagh Tag founder-effect tag was added to gene: ISCU.
Possible mitochondrial disorder - nuclear genes v0.112 IDH3A Ellen McDonagh Classified gene: IDH3A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.112 IDH3A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.112 IDH3A Ellen McDonagh Gene: idh3a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.111 FDX2 Ellen McDonagh Classified gene: FDX2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.111 FDX2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.111 FDX2 Ellen McDonagh Gene: fdx2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.110 ERAL1 Ellen McDonagh Classified gene: ERAL1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.110 ERAL1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.110 ERAL1 Ellen McDonagh Gene: eral1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.39 RANBP2 Louise Daugherty Mode of inheritance for gene: RANBP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.39 RANBP2 Louise Daugherty Mode of inheritance for gene: RANBP2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.38 SAMD9L Louise Daugherty Mode of inheritance for gene: SAMD9L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.37 PTEN Louise Daugherty Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary immunodeficiency or monogenic inflammatory bowel disease v1.36 CFHR5 Louise Daugherty Added comment: Comment on mode of inheritance: Changed MOI in view of IUIS data
Primary immunodeficiency or monogenic inflammatory bowel disease v1.36 CFHR5 Louise Daugherty Mode of inheritance for gene: CFHR5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.109 ECSIT Ellen McDonagh Classified gene: ECSIT as Red List (low evidence)
Possible mitochondrial disorder - nuclear genes v0.109 ECSIT Ellen McDonagh Gene: ecsit has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.35 WDR1 Louise Daugherty Mode of inheritance for gene: WDR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.34 USP18 Louise Daugherty Mode of inheritance for gene: USP18 was changed from to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.108 ECSIT Ellen McDonagh Classified gene: ECSIT as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.108 ECSIT Ellen McDonagh Added comment: Comment on list classification: The evidence underlying this gene-disease was discussed on the NHSE GMS Mitochondrial Specialist Group Meeting call on 25th February 2019. It was confirmed that this gene should be Red due to insufficient evidence; no cases have yet been reported in the literature and its role is not yet completely understood.
Possible mitochondrial disorder - nuclear genes v0.108 ECSIT Ellen McDonagh Gene: ecsit has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.33 TNFRSF11A Louise Daugherty Mode of inheritance for gene: TNFRSF11A was changed from to BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.107 DNM2 Ellen McDonagh Classified gene: DNM2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.107 DNM2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.107 DNM2 Ellen McDonagh Gene: dnm2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.106 CEP89 Ellen McDonagh Classified gene: CEP89 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.106 CEP89 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.106 CEP89 Ellen McDonagh Gene: cep89 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.105 CA5A Ellen McDonagh Classified gene: CA5A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.105 CA5A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.105 CA5A Ellen McDonagh Gene: ca5a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.104 C19orf70 Ellen McDonagh Classified gene: C19orf70 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.104 C19orf70 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.104 C19orf70 Ellen McDonagh Gene: c19orf70 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.103 COX8A Ellen McDonagh Classified gene: COX8A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.103 COX8A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.103 COX8A Ellen McDonagh Gene: cox8a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.102 COX7C Ellen McDonagh Classified gene: COX7C as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.102 COX7C Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.102 COX7C Ellen McDonagh Gene: cox7c has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.101 COX7A1 Ellen McDonagh Classified gene: COX7A1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.101 COX7A1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.101 COX7A1 Ellen McDonagh Gene: cox7a1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.100 COX6C Ellen McDonagh Classified gene: COX6C as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.100 COX6C Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.100 COX6C Ellen McDonagh Gene: cox6c has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.99 COX6B2 Ellen McDonagh Classified gene: COX6B2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.99 COX6B2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.99 COX6B2 Ellen McDonagh Gene: cox6b2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.98 COX6A2 Ellen McDonagh Classified gene: COX6A2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.98 COX6A2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.98 COX6A2 Ellen McDonagh Gene: cox6a2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.97 COX5B Ellen McDonagh Classified gene: COX5B as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.97 COX5B Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.97 COX5B Ellen McDonagh Gene: cox5b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.96 COX5A Ellen McDonagh Classified gene: COX5A as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.96 COX5A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.96 COX5A Ellen McDonagh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.95 COX4I2 Ellen McDonagh Classified gene: COX4I2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.95 COX4I2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.95 COX4I2 Ellen McDonagh Gene: cox4i2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.94 COX4I1 Ellen McDonagh Classified gene: COX4I1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.94 COX4I1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.94 COX4I1 Ellen McDonagh Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.93 COX19 Ellen McDonagh Classified gene: COX19 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.93 COX19 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.93 COX19 Ellen McDonagh Gene: cox19 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.92 COX18 Ellen McDonagh Classified gene: COX18 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.92 COX18 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.92 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.91 COX17 Ellen McDonagh Classified gene: COX17 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.91 COX17 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.91 COX17 Ellen McDonagh Gene: cox17 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.90 COX16 Ellen McDonagh Classified gene: COX16 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.90 COX16 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.90 COX16 Ellen McDonagh Gene: cox16 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.89 COX11 Ellen McDonagh Classified gene: COX11 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.89 COX11 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.89 COX11 Ellen McDonagh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.88 COA7 Ellen McDonagh Classified gene: COA7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.88 COA7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.88 COA7 Ellen McDonagh Gene: coa7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.87 COA6 Ellen McDonagh Classified gene: COA6 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.87 COA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.87 COA6 Ellen McDonagh Gene: coa6 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.86 COA5 Ellen McDonagh Classified gene: COA5 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.86 COA5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.86 COA5 Ellen McDonagh Gene: coa5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.85 COA4 Ellen McDonagh Classified gene: COA4 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.85 COA4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.85 COA4 Ellen McDonagh Gene: coa4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.84 COA3 Ellen McDonagh Classified gene: COA3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.84 COA3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.84 COA3 Ellen McDonagh Gene: coa3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.83 COA1 Ellen McDonagh Classified gene: COA1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.83 COA1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.83 COA1 Ellen McDonagh Gene: coa1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.82 UQCRH Ellen McDonagh Classified gene: UQCRH as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.82 UQCRH Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.82 UQCRH Ellen McDonagh Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.81 UQCRFS1 Ellen McDonagh Classified gene: UQCRFS1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.81 UQCRFS1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.81 UQCRFS1 Ellen McDonagh Gene: uqcrfs1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.80 UQCC1 Ellen McDonagh Classified gene: UQCC1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.80 UQCC1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.80 UQCC1 Ellen McDonagh Gene: uqcc1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.79 UQCRC2 Ellen McDonagh Classified gene: UQCRC2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.79 UQCRC2 Ellen McDonagh Added comment: Comment on list classification: Two unrelated cases/families have been reported, though for the same missense variant.
Possible mitochondrial disorder - nuclear genes v0.79 UQCRC2 Ellen McDonagh Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.78 UQCRC2 Ellen McDonagh Publications for gene: UQCRC2 were set to
Possible mitochondrial disorder - nuclear genes v0.77 UQCRC2 Ellen McDonagh Classified gene: UQCRC2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.77 UQCRC2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.77 UQCRC2 Ellen McDonagh Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.151 UQCRC2 Ellen McDonagh Mode of inheritance for gene: UQCRC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.150 UQCRC2 Ellen McDonagh Classified gene: UQCRC2 as Amber List (moderate evidence)
Mitochondrial disorders v1.150 UQCRC2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to two unrelated cases/families - though this is for the same missense variant.
Mitochondrial disorders v1.150 UQCRC2 Ellen McDonagh Gene: uqcrc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.149 UQCRC2 Ellen McDonagh Publications for gene: UQCRC2 were set to 28275242
Mitochondrial disorders v1.148 UQCRC2 Ellen McDonagh Publications for gene: UQCRC2 were set to
Possible mitochondrial disorder - nuclear genes v0.76 UQCRC1 Ellen McDonagh Classified gene: UQCRC1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.76 UQCRC1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.76 UQCRC1 Ellen McDonagh Gene: uqcrc1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.75 UQCRB Ellen McDonagh Classified gene: UQCRB as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.75 UQCRB Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.75 UQCRB Ellen McDonagh Gene: uqcrb has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.74 UQCC3 Ellen McDonagh Classified gene: UQCC3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.74 UQCC3 Ellen McDonagh Gene: uqcc3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.73 UQCR11 Ellen McDonagh Classified gene: UQCR11 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.73 UQCR11 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.73 UQCR11 Ellen McDonagh Gene: uqcr11 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.72 UQCR10 Ellen McDonagh Classified gene: UQCR10 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.72 UQCR10 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.72 UQCR10 Ellen McDonagh Gene: uqcr10 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.71 UQCC3 Ellen McDonagh Classified gene: UQCC3 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.71 UQCC3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.147) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.71 UQCC3 Ellen McDonagh Gene: uqcc3 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.147 UQCC2 Ellen McDonagh Phenotypes for gene: UQCC2 were changed from Isolated complex III deficiency to Isolated complex III deficiency; Mitochondrial complex III deficiency, nuclear type 7, MIM#615824
Mitochondrial disorders v1.146 UQCC2 Ellen McDonagh Publications for gene: UQCC2 were set to
Mitochondrial disorders v1.145 UQCC2 Ellen McDonagh Mode of inheritance for gene: UQCC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.144 UQCC2 Ellen McDonagh Classified gene: UQCC2 as Amber List (moderate evidence)
Mitochondrial disorders v1.144 UQCC2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to two reports.
Mitochondrial disorders v1.144 UQCC2 Ellen McDonagh Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.70 UQCC2 Ellen McDonagh Classified gene: UQCC2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.70 UQCC2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.143) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.70 UQCC2 Ellen McDonagh Gene: uqcc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.69 PARS2 Ellen McDonagh Classified gene: PARS2 as Green List (high evidence)
Possible mitochondrial disorder - nuclear genes v0.69 PARS2 Ellen McDonagh Added comment: Comment on list classification: More than 3 unrelated families reported.
Possible mitochondrial disorder - nuclear genes v0.69 PARS2 Ellen McDonagh Gene: pars2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.143 PARS2 Ellen McDonagh Classified gene: PARS2 as Green List (high evidence)
Mitochondrial disorders v1.143 PARS2 Ellen McDonagh Added comment: Comment on list classification: Promoted from Amber to Green due to more than 3 unrelated families reported.
Mitochondrial disorders v1.143 PARS2 Ellen McDonagh Gene: pars2 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.142 PARS2 Ellen McDonagh Publications for gene: PARS2 were set to PMID: 25629079 (single case)
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SMCHD1 Elizabeth Harris reviewed gene: SMCHD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: fascioscapulohumeral muscular dystrophy; Mode of inheritance: Other
Possible mitochondrial disorder - nuclear genes v0.68 NSUN3 Ellen McDonagh Classified gene: NSUN3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.68 NSUN3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.68 NSUN3 Ellen McDonagh Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.67 NFS1 Ellen McDonagh Classified gene: NFS1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.67 NFS1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.67 NFS1 Ellen McDonagh Gene: nfs1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.66 NDUFV3 Ellen McDonagh Classified gene: NDUFV3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.66 NDUFV3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.66 NDUFV3 Ellen McDonagh Gene: ndufv3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.65 NDUFS5 Ellen McDonagh Classified gene: NDUFS5 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.65 NDUFS5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.65 NDUFS5 Ellen McDonagh Gene: ndufs5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.64 NDUFC2 Ellen McDonagh Classified gene: NDUFC2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.64 NDUFC2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.64 NDUFC2 Ellen McDonagh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.63 NDUFC1 Ellen McDonagh Classified gene: NDUFC1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.63 NDUFC1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.63 NDUFC1 Ellen McDonagh Gene: ndufc1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.62 NDUFB9 Ellen McDonagh Classified gene: NDUFB9 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.62 NDUFB9 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently RAmber on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.62 NDUFB9 Ellen McDonagh Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.61 NDUFB8 Ellen McDonagh Classified gene: NDUFB8 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.61 NDUFB8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.61 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.61 NDUFB8 Ellen McDonagh Classified gene: NDUFB8 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.61 NDUFB8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.61 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.60 NDUFB7 Ellen McDonagh Classified gene: NDUFB7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.60 NDUFB7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.60 NDUFB7 Ellen McDonagh Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.59 NDUFB6 Ellen McDonagh Classified gene: NDUFB6 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.59 NDUFB6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.59 NDUFB6 Ellen McDonagh Gene: ndufb6 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.58 NDUFB5 Ellen McDonagh Classified gene: NDUFB5 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.58 NDUFB5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.58 NDUFB5 Ellen McDonagh Gene: ndufb5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.57 NDUFB4 Ellen McDonagh Classified gene: NDUFB4 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.57 NDUFB4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.57 NDUFB4 Ellen McDonagh Gene: ndufb4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.56 NDUFB2 Ellen McDonagh Classified gene: NDUFB2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.56 NDUFB2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.56 NDUFB2 Ellen McDonagh Gene: ndufb2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.55 NDUFB10 Ellen McDonagh Classified gene: NDUFB10 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.55 NDUFB10 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.55 NDUFB10 Ellen McDonagh Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.54 NDUFB1 Ellen McDonagh Classified gene: NDUFB1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.54 NDUFB1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.54 NDUFB1 Ellen McDonagh Gene: ndufb1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.53 NDUFAF8 Ellen McDonagh Classified gene: NDUFAF8 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.53 NDUFAF8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.53 NDUFAF8 Ellen McDonagh Gene: ndufaf8 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.52 NDUFAF7 Ellen McDonagh Classified gene: NDUFAF7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.52 NDUFAF7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.52 NDUFAF7 Ellen McDonagh Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.51 NDUFAB1 Ellen McDonagh Classified gene: NDUFAB1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.51 NDUFAB1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.51 NDUFAB1 Ellen McDonagh Gene: ndufab1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.50 NDUFA9 Ellen McDonagh Classified gene: NDUFA9 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.50 NDUFA9 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.50 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 POMK Elizabeth Harris reviewed gene: POMK: Rating: ; Mode of pathogenicity: None; Publications: PMID: 24925318; Phenotypes: limb girdle musuclar dystorphy, congenital muscular dystrophy; Mode of inheritance: None
Possible mitochondrial disorder - nuclear genes v0.49 NDUFA8 Ellen McDonagh Classified gene: NDUFA8 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.49 NDUFA8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.49 NDUFA8 Ellen McDonagh Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.48 NDUFA7 Ellen McDonagh Classified gene: NDUFA7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.48 NDUFA7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.48 NDUFA7 Ellen McDonagh Gene: ndufa7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.47 NDUFA6 Ellen McDonagh Classified gene: NDUFA6 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.47 NDUFA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.47 NDUFA6 Ellen McDonagh Gene: ndufa6 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.46 NDUFA5 Ellen McDonagh Classified gene: NDUFA5 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.46 NDUFA5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.46 NDUFA5 Ellen McDonagh Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.45 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.45 NDUFA4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.45 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.44 NDUFA3 Ellen McDonagh Classified gene: NDUFA3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.44 NDUFA3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.44 NDUFA3 Ellen McDonagh Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.43 NDUFA13 Ellen McDonagh Classified gene: NDUFA13 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.43 NDUFA13 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.43 NDUFA13 Ellen McDonagh Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.42 NDUFA12 Ellen McDonagh Classified gene: NDUFA12 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.42 NDUFA12 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.42 NDUFA12 Ellen McDonagh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 POMGNT2 Elizabeth Harris reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 27066570; Phenotypes: limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.41 MRPS7 Ellen McDonagh Classified gene: MRPS7 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.41 MRPS7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.41 MRPS7 Ellen McDonagh Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.40 MRPS23 Ellen McDonagh Classified gene: MRPS23 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.40 MRPS23 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.40 MRPS23 Ellen McDonagh Gene: mrps23 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.39 MRPS2 Ellen McDonagh Classified gene: MRPS2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.39 MRPS2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.39 MRPS2 Ellen McDonagh Gene: mrps2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.38 MRPS16 Ellen McDonagh Classified gene: MRPS16 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.38 MRPS16 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.38 MRPS16 Ellen McDonagh Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 LIMS2 Elizabeth Harris reviewed gene: LIMS2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25589244; Phenotypes: limb girdle muscular dystrophy, cardiomyopathy, triangular tongue; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.141 MRPS16 Ellen McDonagh Publications for gene: MRPS16 were set to
Mitochondrial disorders v1.140 MRPS16 Ellen McDonagh Mode of inheritance for gene: MRPS16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.139 MRPS16 Ellen McDonagh Classified gene: MRPS16 as Amber List (moderate evidence)
Mitochondrial disorders v1.139 MRPS16 Ellen McDonagh Added comment: Comment on list classification: Additional case reported - promoted from Red to Amber.
Mitochondrial disorders v1.139 MRPS16 Ellen McDonagh Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 ISPD Elizabeth Harris reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23390185; Phenotypes: congenital muscular dystrophy, limb girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes v0.37 MRPS14 Ellen McDonagh Classified gene: MRPS14 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.37 MRPS14 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.37 MRPS14 Ellen McDonagh Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Likely inborn error of metabolism v1.52 MRPL44 Ellen McDonagh Publications for gene: MRPL44 were set to
Likely inborn error of metabolism v1.51 MRPL44 Ellen McDonagh Mode of inheritance for gene: MRPL44 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism v1.50 MRPL44 Ellen McDonagh Classified gene: MRPL44 as Green List (high evidence)
Likely inborn error of metabolism v1.50 MRPL44 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green on the Mitochondrial disorders (Version 1.138) gene panel due to to reports in 3 unrelated cases/families, therefore promoting this gene in this panel to reflect this change in rating. See publications for evidence.
Likely inborn error of metabolism v1.50 MRPL44 Ellen McDonagh Gene: mrpl44 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.138 MRPL44 Ellen McDonagh Publications for gene: MRPL44 were set to
Mitochondrial disorders v1.137 MRPL44 Ellen McDonagh Mode of inheritance for gene: MRPL44 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.136 MRPL44 Ellen McDonagh Classified gene: MRPL44 as Green List (high evidence)
Mitochondrial disorders v1.136 MRPL44 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Green due to reports in 3 unrelated cases/families.
Mitochondrial disorders v1.136 MRPL44 Ellen McDonagh Gene: mrpl44 has been classified as Green List (High Evidence).
Possible mitochondrial disorder - nuclear genes v0.36 MRPL3 Ellen McDonagh Classified gene: MRPL3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.36 MRPL3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.135) due to two family reports - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.36 MRPL3 Ellen McDonagh Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.135 MRPL3 Ellen McDonagh Classified gene: MRPL3 as Amber List (moderate evidence)
Mitochondrial disorders v1.135 MRPL3 Ellen McDonagh Added comment: Comment on list classification: Promoted from Red to Amber due to two family reports.
Mitochondrial disorders v1.135 MRPL3 Ellen McDonagh Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.134 MRPL3 Ellen McDonagh Mode of inheritance for gene: MRPL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.133 MRPL3 Ellen McDonagh Publications for gene: MRPL3 were set to
Possible mitochondrial disorder - nuclear genes v0.35 MRPL12 Ellen McDonagh Classified gene: MRPL12 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.35 MRPL12 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.35 MRPL12 Ellen McDonagh Gene: mrpl12 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.34 ATPAF1 Ellen McDonagh Classified gene: ATPAF1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.34 ATPAF1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.34 ATPAF1 Ellen McDonagh Gene: atpaf1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.33 ATP5L2 Ellen McDonagh Classified gene: ATP5L2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.33 ATP5L2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.33 ATP5L2 Ellen McDonagh Gene: atp5l2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.32 ATP5L Ellen McDonagh Classified gene: ATP5L as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.32 ATP5L Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.32 ATP5L Ellen McDonagh Gene: atp5l has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.31 ATP5J2 Ellen McDonagh Classified gene: ATP5J2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.31 ATP5J2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.31 ATP5J2 Ellen McDonagh Gene: atp5j2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.30 ATP5J Ellen McDonagh Classified gene: ATP5J as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.30 ATP5J Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.30 ATP5J Ellen McDonagh Gene: atp5j has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.29 ATP5I Ellen McDonagh Classified gene: ATP5I as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.29 ATP5I Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.29 ATP5I Ellen McDonagh Gene: atp5i has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.28 ATP5O Ellen McDonagh Classified gene: ATP5O as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.28 ATP5O Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.28 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.27 ATP5G3 Ellen McDonagh Classified gene: ATP5G3 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.27 ATP5G3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.27 ATP5G3 Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.26 ATP5G2 Ellen McDonagh Classified gene: ATP5G2 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.26 ATP5G2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.26 ATP5G2 Ellen McDonagh Gene: atp5g2 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.25 ATP5G1 Ellen McDonagh Classified gene: ATP5G1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.25 ATP5G1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.25 ATP5G1 Ellen McDonagh Gene: atp5g1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.24 ATP5E Ellen McDonagh Classified gene: ATP5E as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.24 ATP5E Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.24 ATP5E Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.23 ATP5H Ellen McDonagh Classified gene: ATP5H as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.23 ATP5H Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.23 ATP5H Ellen McDonagh Gene: atp5h has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.22 ATP5F1 Ellen McDonagh Classified gene: ATP5F1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.22 ATP5F1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.22 ATP5F1 Ellen McDonagh Gene: atp5f1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.21 ATP5D Ellen McDonagh Classified gene: ATP5D as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.21 ATP5D Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.21 ATP5D Ellen McDonagh Gene: atp5d has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.20 ATP5C1 Ellen McDonagh Classified gene: ATP5C1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.20 ATP5C1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.20 ATP5C1 Ellen McDonagh Gene: atp5c1 has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.19 ATP5B Ellen McDonagh Classified gene: ATP5B as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.19 ATP5B Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.19 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Possible mitochondrial disorder - nuclear genes v0.18 ATP5A1 Ellen McDonagh Classified gene: ATP5A1 as Amber List (moderate evidence)
Possible mitochondrial disorder - nuclear genes v0.18 ATP5A1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Possible mitochondrial disorder - nuclear genes v0.18 ATP5A1 Ellen McDonagh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris Deleted their comment
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 BVES Elizabeth Harris commented on gene: BVES: initially given and LGMD classification but recent international expert review of the LGMD genes and nomenclature (PMID: 30055862) deemed that given that this has only been reported in one family that this could not justify an official LGMD designation, however the clinical overlap and likelihood of identifying additional affected individuals with LGMD presentation justifies inclusion in this panel.
Mitochondrial disorder with complex V deficiency v0.21 ATPAF1 Ellen McDonagh Classified gene: ATPAF1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.21 ATPAF1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.21 ATPAF1 Ellen McDonagh Gene: atpaf1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.20 ATP5O Ellen McDonagh Classified gene: ATP5O as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.20 ATP5O Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.20 ATP5O Ellen McDonagh Gene: atp5o has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.19 ATP5J Ellen McDonagh Classified gene: ATP5J as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.19 ATP5J Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.19 ATP5J Ellen McDonagh Gene: atp5j has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.18 ATP5I Ellen McDonagh Classified gene: ATP5I as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.18 ATP5I Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.18 ATP5I Ellen McDonagh Gene: atp5i has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 HNRNPDL Elizabeth Harris commented on gene: HNRNPDL: Note that an international expert review of the LGMD genes and nomenclature deemed that this is an LGMD causative gene (PMID: 30055862), I therefore strongly feel that this should be included in this panel list
Mitochondrial disorder with complex V deficiency v0.17 ATP5L2 Ellen McDonagh Classified gene: ATP5L2 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.17 ATP5L2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.17 ATP5L2 Ellen McDonagh Gene: atp5l2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.16 ATP5L Ellen McDonagh Classified gene: ATP5L as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.16 ATP5L Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.16 ATP5L Ellen McDonagh Gene: atp5l has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.15 ATP5J2 Ellen McDonagh Classified gene: ATP5J2 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.15 ATP5J2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.15 ATP5J2 Ellen McDonagh Gene: atp5j2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.14 ATP5H Ellen McDonagh Classified gene: ATP5H as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.14 ATP5H Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.14 ATP5H Ellen McDonagh Gene: atp5h has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris commented on gene: TTN: Currently only recurrent HMERF associated mutations are reported by this lab but truncating variants are also of great clinical interest. Difficulty classifying variants in titin should not be a reason not to include this gene as additional phenotyping studies such as muscle MRI, biopsy review and protein analysis is often extremely helpful in confirming or refuting the diagnosis.
Mitochondrial disorder with complex V deficiency v0.13 ATP5G2 Ellen McDonagh Classified gene: ATP5G2 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.13 ATP5G2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.13 ATP5G2 Ellen McDonagh Gene: atp5g2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.12 ATP5G3 Ellen McDonagh Classified gene: ATP5G3 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.12 ATP5G3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.12 ATP5G3 Ellen McDonagh Gene: atp5g3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.11 ATP5G1 Ellen McDonagh Classified gene: ATP5G1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.11 ATP5G1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.11 ATP5G1 Ellen McDonagh Gene: atp5g1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.10 ATP5E Ellen McDonagh Classified gene: ATP5E as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.10 ATP5E Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.10 ATP5E Ellen McDonagh Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.9 ATP5F1 Ellen McDonagh Classified gene: ATP5F1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.9 ATP5F1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.9 ATP5F1 Ellen McDonagh Gene: atp5f1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SYNE2 Elizabeth Harris commented on gene: SYNE2: Clinical overlap between contractural phenotypes such as this and LGMDs justifies inclusion in this panel
Mitochondrial disorder with complex V deficiency v0.8 ATP5D Ellen McDonagh Classified gene: ATP5D as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.8 ATP5D Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.8 ATP5D Ellen McDonagh Gene: atp5d has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris commented on gene: DES: Clinical overlap with LGMDS and myofibrillar myopathies justifies inclusion of this gene in this list
Mitochondrial disorder with complex V deficiency v0.7 ATP5C1 Ellen McDonagh Classified gene: ATP5C1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.7 ATP5C1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.7 ATP5C1 Ellen McDonagh Gene: atp5c1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.6 ATP5B Ellen McDonagh Classified gene: ATP5B as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.6 ATP5B Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.6 ATP5B Ellen McDonagh Gene: atp5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex V deficiency v0.5 ATP5A1 Ellen McDonagh Classified gene: ATP5A1 as Amber List (moderate evidence)
Mitochondrial disorder with complex V deficiency v0.5 ATP5A1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex V deficiency v0.5 ATP5A1 Ellen McDonagh Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DAG1 Elizabeth Harris commented on gene: DAG1: Note that an international expert review of the LGMD genes and nomenclature deemed that this is an LGMD causative gene (PMID: 30055862), I therefore strongly feel that this should be included in this panel list
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DAG1 Elizabeth Harris reviewed gene: DAG1: Rating: ; Mode of pathogenicity: None; Publications: PMID: 14678799, PMID: 21388311; Phenotypes: Limb girdle muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 BVES Elizabeth Harris reviewed gene: BVES: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26642364; Phenotypes: limb girdle muscular dystrophy, cardiac arrhythmia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v1.32 PTEN Louise Daugherty Added comment: Comment on publications: publication added to support upgrading gene- suggested by Sophie Hambleton in the GMS Immunological Specialist Test Group webex call 28th March 2019
Primary immunodeficiency or monogenic inflammatory bowel disease v1.32 PTEN Louise Daugherty Publications for gene: PTEN were set to
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris commented on gene: DES: Phenotypic overlap warrants inclusion in this panel
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SYNE2 Elizabeth Harris commented on gene: SYNE2: phenotypic overlap with LGMDs warrants inclusion in this panel
Primary immunodeficiency or monogenic inflammatory bowel disease v1.31 HPS1 Louise Daugherty Publications for gene: HPS1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.30 CFB Louise Daugherty Phenotypes for gene: CFB were changed from Complement factor B deficiency, 615561; Atypical Hemolytic-uremic syndrome; Infections with encapsulated organisms; Complement Deficiencies; Susceptibility to atypical haemolytic uraemic syndrome (4; AD); complement factor B deficiency (AR) to Complement factor B deficiency, 615561; Atypical Hemolytic-uremic syndrome; Infections with encapsulated organisms; Complement Deficiencies; Susceptibility to atypical haemolytic uraemic syndrome 4 (AD); complement factor B deficiency (AR)
Mitochondrial disorder with complex IV deficiency v0.30 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.30 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.29 NDUFA4 Ellen McDonagh Classified gene: NDUFA4 as Green List (high evidence)
Mitochondrial disorder with complex IV deficiency v0.29 NDUFA4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.29 NDUFA4 Ellen McDonagh Gene: ndufa4 has been classified as Green List (High Evidence).
Mitochondrial disorder with complex IV deficiency v0.28 COX8A Ellen McDonagh Classified gene: COX8A as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.28 COX8A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.28 COX8A Ellen McDonagh Gene: cox8a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.27 COX7C Ellen McDonagh Classified gene: COX7C as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.27 COX7C Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.27 COX7C Ellen McDonagh Gene: cox7c has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.26 COX7A1 Ellen McDonagh Classified gene: COX7A1 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.26 COX7A1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.26 COX7A1 Ellen McDonagh Gene: cox7a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.25 COX6C Ellen McDonagh Classified gene: COX6C as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.25 COX6C Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.25 COX6C Ellen McDonagh Gene: cox6c has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.24 COX6B2 Ellen McDonagh Classified gene: COX6B2 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.24 COX6B2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.24 COX6B2 Ellen McDonagh Gene: cox6b2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.23 COX6A2 Ellen McDonagh Classified gene: COX6A2 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.23 COX6A2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.23 COX6A2 Ellen McDonagh Gene: cox6a2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.22 COX5B Ellen McDonagh Classified gene: COX5B as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.22 COX5B Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.22 COX5B Ellen McDonagh Gene: cox5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.21 COX5A Ellen McDonagh Classified gene: COX5A as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.21 COX5A Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.21 COX5A Ellen McDonagh Gene: cox5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.20 COX4I2 Ellen McDonagh Classified gene: COX4I2 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.20 COX4I2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.20 COX4I2 Ellen McDonagh Gene: cox4i2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.19 COX4I1 Ellen McDonagh Classified gene: COX4I1 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.19 COX4I1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.19 COX4I1 Ellen McDonagh Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.18 COX19 Ellen McDonagh Classified gene: COX19 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.18 COX19 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.18 COX19 Ellen McDonagh Gene: cox19 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.17 COX18 Ellen McDonagh Classified gene: COX18 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.17 COX18 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.17 COX18 Ellen McDonagh Gene: cox18 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.16 COX17 Ellen McDonagh Classified gene: COX17 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.16 COX17 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.16 COX17 Ellen McDonagh Gene: cox17 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.15 COX16 Ellen McDonagh Classified gene: COX16 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.15 COX16 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.15 COX16 Ellen McDonagh Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.14 COX11 Ellen McDonagh Classified gene: COX11 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.14 COX11 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.14 COX11 Ellen McDonagh Gene: cox11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.13 COA7 Ellen McDonagh Classified gene: COA7 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.13 COA7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.13 COA7 Ellen McDonagh Gene: coa7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.12 COA6 Ellen McDonagh Classified gene: COA6 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.12 COA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.12 COA6 Ellen McDonagh Gene: coa6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.11 COA5 Ellen McDonagh Classified gene: COA5 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.11 COA5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.11 COA5 Ellen McDonagh Gene: coa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.10 COA4 Ellen McDonagh Classified gene: COA4 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.10 COA4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.10 COA4 Ellen McDonagh Gene: coa4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.9 COA3 Ellen McDonagh Classified gene: COA3 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.9 COA3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.9 COA3 Ellen McDonagh Gene: coa3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex IV deficiency v0.8 COA1 Ellen McDonagh Classified gene: COA1 as Amber List (moderate evidence)
Mitochondrial disorder with complex IV deficiency v0.8 COA1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex IV deficiency v0.8 COA1 Ellen McDonagh Gene: coa1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.35 TIMMDC1 Ellen McDonagh Marked gene: TIMMDC1 as ready
Mitochondrial disorder with complex I deficiency v0.35 TIMMDC1 Ellen McDonagh Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.35 NDUFV3 Ellen McDonagh Classified gene: NDUFV3 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.35 NDUFV3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.35 NDUFV3 Ellen McDonagh Gene: ndufv3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.34 NDUFS5 Ellen McDonagh Classified gene: NDUFS5 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.34 NDUFS5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.34 NDUFS5 Ellen McDonagh Gene: ndufs5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.33 NDUFC2 Ellen McDonagh Classified gene: NDUFC2 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.33 NDUFC2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.33 NDUFC2 Ellen McDonagh Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.32 NDUFC1 Ellen McDonagh Classified gene: NDUFC1 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.32 NDUFC1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.132) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.32 NDUFC1 Ellen McDonagh Gene: ndufc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.31 NDUFB9 Ellen McDonagh Classified gene: NDUFB9 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.31 NDUFB9 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.31 NDUFB9 Ellen McDonagh Gene: ndufb9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.132 NDUFB9 Ellen McDonagh 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.
Mitochondrial disorders v1.132 NDUFB9 Ellen McDonagh 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.
Mitochondrial disorder with complex I deficiency v0.30 NDUFB9 Ellen McDonagh 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.
Mitochondrial disorder with complex I deficiency v0.30 NDUFB9 Ellen McDonagh Publications for gene: NDUFB9 were set to
Mitochondrial disorder with complex I deficiency v0.29 NDUFB8 Ellen McDonagh Classified gene: NDUFB8 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.29 NDUFB8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.29 NDUFB8 Ellen McDonagh Gene: ndufb8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.28 NDUFB7 Ellen McDonagh Classified gene: NDUFB7 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.28 NDUFB7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.28 NDUFB7 Ellen McDonagh Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.27 NDUFB6 Ellen McDonagh Classified gene: NDUFB6 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.27 NDUFB6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.27 NDUFB6 Ellen McDonagh Gene: ndufb6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.26 NDUFB5 Ellen McDonagh Classified gene: NDUFB5 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.26 NDUFB5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.26 NDUFB5 Ellen McDonagh Gene: ndufb5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.25 NDUFB4 Ellen McDonagh Classified gene: NDUFB4 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.25 NDUFB4 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.25 NDUFB4 Ellen McDonagh Gene: ndufb4 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.24 NDUFB2 Ellen McDonagh Classified gene: NDUFB2 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.24 NDUFB2 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.24 NDUFB2 Ellen McDonagh Gene: ndufb2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.23 NDUFB10 Ellen McDonagh Classified gene: NDUFB10 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.23 NDUFB10 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.23 NDUFB10 Ellen McDonagh Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.22 NDUFB1 Ellen McDonagh Classified gene: NDUFB1 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.22 NDUFB1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.22 NDUFB1 Ellen McDonagh Gene: ndufb1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.21 NDUFAF8 Ellen McDonagh Classified gene: NDUFAF8 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.21 NDUFAF8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is not currently on the Mitochondrial disorders panel (code 112, Version 1.131) and is not in OMIM associated with a disease - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.21 NDUFAF8 Ellen McDonagh Gene: ndufaf8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.20 NDUFAF7 Ellen McDonagh Classified gene: NDUFAF7 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.20 NDUFAF7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently not on the Mitochondrial disorders panel (code 112, Version 1.131) and is not associated with a disease in OMIM - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.20 NDUFAF7 Ellen McDonagh Gene: ndufaf7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.19 NDUFAB1 Ellen McDonagh Classified gene: NDUFAB1 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.19 NDUFAB1 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.131) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.19 NDUFAB1 Ellen McDonagh Gene: ndufab1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.18 NDUFA9 Ellen McDonagh Classified gene: NDUFA9 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.18 NDUFA9 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Amber on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.18 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorders v1.131 NDUFA9 Ellen McDonagh Phenotypes for gene: NDUFA9 were changed from Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3 to Isolated complex I deficiency; Leigh syndrome due to mitochondrial complex I deficiency, 256000
Mitochondrial disorders v1.130 NDUFA9 Ellen McDonagh Publications for gene: NDUFA9 were set to
Mitochondrial disorders v1.129 NDUFA9 Ellen McDonagh Mode of inheritance for gene: NDUFA9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.128 NDUFA9 Ellen McDonagh Classified gene: NDUFA9 as Amber List (moderate evidence)
Mitochondrial disorders v1.128 NDUFA9 Ellen McDonagh Added comment: Comment on list classification: Promoted to Amber due to additional reports for 2 cases (see publications).
Mitochondrial disorders v1.128 NDUFA9 Ellen McDonagh Gene: ndufa9 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.17 NDUFA9 Ellen McDonagh Publications for gene: NDUFA9 were set to
Mitochondrial disorder with complex I deficiency v0.16 NDUFA8 Ellen McDonagh Classified gene: NDUFA8 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.16 NDUFA8 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.16 NDUFA8 Ellen McDonagh Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.15 NDUFA7 Ellen McDonagh Classified gene: NDUFA7 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.15 NDUFA7 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.15 NDUFA7 Ellen McDonagh Gene: ndufa7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.14 NDUFA6 Ellen McDonagh Classified gene: NDUFA6 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.14 NDUFA6 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.14 NDUFA6 Ellen McDonagh Gene: ndufa6 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.13 NDUFA5 Ellen McDonagh Classified gene: NDUFA5 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.13 NDUFA5 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.13 NDUFA5 Ellen McDonagh Gene: ndufa5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.12 NDUFA3 Ellen McDonagh Classified gene: NDUFA3 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.12 NDUFA3 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.12 NDUFA3 Ellen McDonagh Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.11 NDUFA13 Ellen McDonagh Classified gene: NDUFA13 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.11 NDUFA13 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.11 NDUFA13 Ellen McDonagh Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Mitochondrial disorder with complex I deficiency v0.10 NDUFA12 Ellen McDonagh Classified gene: NDUFA12 as Amber List (moderate evidence)
Mitochondrial disorder with complex I deficiency v0.10 NDUFA12 Ellen McDonagh Added comment: Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.127) - further evidence needs to be submitted to support promoting this gene family member to Green.
Mitochondrial disorder with complex I deficiency v0.10 NDUFA12 Ellen McDonagh Gene: ndufa12 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.789 RNF135 Louise Daugherty Publications for gene: RNF135 were set to
Intellectual disability v2.788 RNF135 Louise Daugherty Classified gene: RNF135 as Red List (low evidence)
Intellectual disability v2.788 RNF135 Louise Daugherty Added comment: Comment on list classification: Downgraded gene from Amber to Red due to external review highlighting new publication Wright et al. (2019 - PMID: 30665703) that refutes any evidence for developmental disorders (which includes ID)
Intellectual disability v2.788 RNF135 Louise Daugherty Gene: rnf135 has been classified as Red List (Low Evidence).
Adult solid tumours cancer susceptibility v1.2 PDGFRA Ellen McDonagh commented on gene: PDGFRA
Adult solid tumours cancer susceptibility v1.2 EXT2 Ellen McDonagh commented on gene: EXT2
Adult solid tumours cancer susceptibility v1.2 EXT1 Ellen McDonagh commented on gene: EXT1
Adult solid tumours cancer susceptibility v1.2 AIP Ellen McDonagh commented on gene: AIP
Neuronal ceroid lipofuscinosis v0.4 CTSF Sarah Leigh Publications for gene: CTSF were set to
Adult solid tumours cancer susceptibility v1.2 PDGFRA Ellen McDonagh gene: PDGFRA was added
gene: PDGFRA was added to Adult solid tumours cancer susceptibility. Sources: Literature
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor
Adult solid tumours cancer susceptibility v1.2 EXT2 Ellen McDonagh gene: EXT2 was added
gene: EXT2 was added to Adult solid tumours cancer susceptibility. Sources: Other,Expert Review Amber
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXT2 were set to 27636706; 29529714; 23770606; 7726168
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2
Adult solid tumours cancer susceptibility v1.2 EXT1 Ellen McDonagh gene: EXT1 was added
gene: EXT1 was added to Adult solid tumours cancer susceptibility. Sources: Other,Expert Review Amber
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXT1 were set to 29529714; 10441575; 23770606
Phenotypes for gene: EXT1 were set to Chondrosarcoma 215300
Adult solid tumours cancer susceptibility v1.2 AIP Ellen McDonagh gene: AIP was added
gene: AIP was added to Adult solid tumours cancer susceptibility. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: AIP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: AIP were set to 17360484
Phenotypes for gene: AIP were set to Pituitary adenoma 1, multiple types 102200
Sarcoma cancer susceptibility v1.7 Ellen McDonagh Panel name changed from Sarcoma pertinent cancer susceptibility to Sarcoma cancer susceptibility
List of related panels changed from Sarcoma to Sarcoma;Sarcoma pertinent cancer susceptibility
Haematological malignancies cancer susceptibility v1.3 Ellen McDonagh Panel name changed from Haematological malignancies pertinent cancer susceptibility to Haematological malignancies cancer susceptibility
List of related panels changed from Haemonc to Haemonc;Haematological malignancies pertinent cancer susceptibility
Adult solid tumours cancer susceptibility v1.1 Ellen McDonagh Panel name changed from Adult solid tumours pertinent cancer susceptibility to Adult solid tumours cancer susceptibility
List of related panels changed from Carcinoma of unknown primary; Other to Carcinoma of unknown primary; Other; Adult solid tumours pertinent cancer susceptibility
Undiagnosed metabolic disorders v1.96 ATP13A2 Sarah Leigh Publications for gene: ATP13A2 were set to 27604308; 16964263; 27217339
Cystic kidney disease v1.44 WDR19 Eleanor Williams Phenotypes for gene: WDR19 were changed from Ciliopathy genes associated with cystic kidney disease to Ciliopathy genes associated with cystic kidney disease; Nephronophthisis 13, Senior-Loken
Cystic kidney disease v1.43 WDR19 Eleanor Williams Publications for gene: WDR19 were set to
Cystic kidney disease v1.42 WDR19 Eleanor Williams Mode of inheritance for gene: WDR19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.11 MAPKBP1 Anna de Burca reviewed gene: MAPKBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28089251; Phenotypes: NEPHRONOPHTHISIS 20; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.11 CEP83 Anna de Burca reviewed gene: CEP83: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v1.41 CEP83 Eleanor Williams Classified gene: CEP83 as Green List (high evidence)
Cystic kidney disease v1.41 CEP83 Eleanor Williams Added comment: Comment on list classification: Sufficient cases
Cystic kidney disease v1.41 CEP83 Eleanor Williams Gene: cep83 has been classified as Green List (High Evidence).
Cystic kidney disease v1.40 MAPKBP1 Eleanor Williams Classified gene: MAPKBP1 as Green List (high evidence)
Cystic kidney disease v1.40 MAPKBP1 Eleanor Williams Added comment: Comment on list classification: Sufficient cases
Cystic kidney disease v1.40 MAPKBP1 Eleanor Williams Gene: mapkbp1 has been classified as Green List (High Evidence).
Tubulointerstitial kidney disease v0.11 WDR19 Anna de Burca reviewed gene: WDR19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Cystic kidney disease v1.39 WDR19 Anna de Burca Classified gene: WDR19 as Green List (high evidence)
Cystic kidney disease v1.39 WDR19 Anna de Burca Added comment: Comment on list classification: Promoted to green following further discussion with Ellen Thomas. Although this gene is associated with a syndromic presentation, it is appropriate for inclusion in this panel due to the renal element of the phenotype.
Cystic kidney disease v1.39 WDR19 Anna de Burca Gene: wdr19 has been classified as Green List (High Evidence).
Cystic kidney disease v1.38 MAPKBP1 Anna de Burca gene: MAPKBP1 was added
gene: MAPKBP1 was added to Cystic kidney disease. Sources: Expert list
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKBP1 were set to 28089251
Phenotypes for gene: MAPKBP1 were set to NEPHRONOPHTHISIS 20
Review for gene: MAPKBP1 was set to GREEN
Added comment: PMID:28089251 reports seven variants present in biallelic form in 8 individuals from 5 families. All individuals had nephronophthisis with progression to ESRF in teens to 20s in 5/8 cases.
Sources: Expert list
Cystic kidney disease v1.37 CEP83 Anna de Burca gene: CEP83 was added
gene: CEP83 was added to Cystic kidney disease. Sources: Expert list
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 24882706
Phenotypes for gene: CEP83 were set to NEPHRONOPHTHISIS 18
Review for gene: CEP83 was set to GREEN
Added comment: PMID: 24882706 reports ten variants found in biallelic form in seven families. All but one of the probands had nephronophthisis progressing to end stage renal failure; some of the affected individuals had additional features including intellectual disability and hydrocephalus.
Sources: Expert list
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.5 CFHR2 Anna de Burca reviewed gene: CFHR2: 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: ; Mode of inheritance: None
Membranoproliferative glomerulonephritis including C3 glomerulopathy v1.5 CFHR1 Anna de Burca reviewed gene: CFHR1: 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: ; Mode of inheritance: None
Proteinuric renal disease v1.50 CRB2 Eleanor Williams Phenotypes for gene: CRB2 were changed from steroid resistant nephrotic syndrome to steroid resistant nephrotic syndrome; Focal segmental glomerulosclerosis 9 #616220; Ventriculomegaly with cystic kidney disease #219730
Proteinuric renal disease v1.49 CRB2 Eleanor Williams Publications for gene: CRB2 were set to 25557779; 27942854
Proteinuric renal disease v1.48 CRB2 Eleanor Williams Classified gene: CRB2 as Green List (high evidence)
Proteinuric renal disease v1.48 CRB2 Eleanor Williams Added comment: Comment on list classification: > 3 unrelated cases with plausible disease causing variants in this gene.
Proteinuric renal disease v1.48 CRB2 Eleanor Williams Gene: crb2 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.47 CRB2 Eleanor Williams edited their review of gene: CRB2: Added comment: Associated with Focal segmental glomerulosclerosis 9 (616220) and Ventriculomegaly with cystic kidney disease (219730) in OMIM.

PMID: 25557779 - Ebarasi et al 2015 - recessive CRB2 variants were detected in 4 unrelated families (2 from Turkey, 2 from Europe). 3 families had parental consanguinity and were homozygous for the variants. In the other family compound heterozgyous variants in CRB2 were detected. Mutations in the first 2 families were found by homozygosity mapping and/or whole-exome sequencing; mutations in the second 2 families were found by sequencing the CRB2 gene in 1,010 families with steroid-resistant nephrotic syndrome. 3 of the mutations occurred at highly conserved residues in the tenth EGF-like domain; and functional studies showed that in crb2-null zebrafish 2 of these mutations resulted in loss of protein function.

PMID: 27942854 - Udagawa et al 2017 - Whole exome sequencing was performed in a 3-year-old girl with SRNS and identified novel compound heterozygous mutations in exons 10 and 12 of CRB2 (p.Trp1086ArgfsX64 and p.Asn1184Thr). Renal pathology showed focal segmental glomerulosclerosis with effaced podocyte foot processes in a small area, with significantly decreased Crb2 expression

PMID: 29473663 - Watanabe et al 2018 - report the long-term clinicopathologic observation of a Japanese female patient with SRNS caused by a newly identified compound heterozygous mutation of CRB2 (p.Arg628Cys and p.Gly839Trp).; Changed publications: PMID: 25557779, PMID: 29473663; Changed phenotypes: Focal segmental glomerulosclerosis 9 #616220, Ventriculomegaly with cystic kidney disease #219730
Proteinuric renal disease v1.47 COQ8B Eleanor Williams Phenotypes for gene: COQ8B were changed from to Nephrotic syndrome, type 9 #615573
Proteinuric renal disease v1.46 COQ8B Eleanor Williams Publications for gene: COQ8B were set to
Proteinuric renal disease v1.45 COQ8B Eleanor Williams Mode of inheritance for gene: COQ8B was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.44 COQ8B Eleanor Williams Classified gene: COQ8B as Green List (high evidence)
Proteinuric renal disease v1.44 COQ8B Eleanor Williams Added comment: Comment on list classification: >3 families with plausible disease causing variants in COQ8B.
Proteinuric renal disease v1.44 COQ8B Eleanor Williams Gene: coq8b has been classified as Green List (High Evidence).
Proteinuric renal disease v1.43 COQ8B Eleanor Williams commented on gene: COQ8B: Associated with Nephrotic syndrome, type 9 615573 in OMIM. Previous symbol: ADCK4.

PMID: 24270420 - Ashraf et al 2013 - using a combination of homozygosity mapping and whole human exome resequencing, identified variants in the aarF domain containing kinase 4 (ADCK4) gene in 15 individuals with SRNS from 8 unrelated families. Several different variants. Functional data supports the role of this gene's involvement in nephrotic syndrome-associated phenotypes. In human podocytes, ADCK4 interacted with members of the CoQ10 biosynthesis pathway, including COQ6, which has been linked with SRNS and COQ7.
Hereditary spastic paraplegia v1.196 EIF2B5 Chris Buxton gene: EIF2B5 was added
gene: EIF2B5 was added to Hereditary spastic paraplegia. Sources: Expert list
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B5 were set to See OMIM https://www.omim.org/entry/603896
Phenotypes for gene: EIF2B5 were set to progressive cerebellar ataxia; spasticity; cognitive impairment
Penetrance for gene: EIF2B5 were set to unknown
Mode of pathogenicity for gene: EIF2B5 was set to Other
Review for gene: EIF2B5 was set to AMBER
gene: EIF2B5 was marked as current diagnostic
Added comment: Curerntly diagnostic on Sheffield's HSP panel.
Vanishing white matter leukodystrophy: Phenotype could be theoretically interpreted as HSP in an infant? so maybe only consider for Child onset HSP panel.
HGMD mostly lists missense variants
Sources: Expert list
Intellectual disability v2.787 CDK8 Konstantinos Varvagiannis Deleted their comment
Intellectual disability v2.787 CDK8 Konstantinos Varvagiannis commented on gene: CDK8: Calpena et al. (2019 - PMID: 30905399 - DDD study among the co-authors) report on 12 unrelated individuals with pathogenic CDK8 missense variants.

Common features included hypotonia and DD (universal feature). Older children displayed variable degrees of ID (2 mild, 5 moderate, 2 moderate-severe). Other features included feeding difficulties, behavioral disorders, CHD, epilepsy (2 individuals), impaired vision and hearing problems in few.

CDK8 (alternatively CDK19) serves a one of the four subunits of a kinase module that reversibly binds to the mediator complex to regulate its activity (in turn, regulation of transcription). Mutations in other genes coding for the 3 other subunits of the kinase module (eg. MED12 or MED13L) lead to syndromic neurodevelopmental disorders.

8 missense CDK8 variants were reported in total. Ser62Leu (NM_001260.2:c.185C>T) was recurrent, observed in 5 subjects. The variants had occurred as de novo events in all cases (10 individuals) where parental samples were available.

All variants clustered in the kinase domain (residues 21-335 - of 464 total) around the ATP binding pocket. A thermal stability assay did not reveal gross protein instability in the presence or absence of ATP while the ability to bind ATP was retained for most/all variants. Study of STAT1 phosphorylation was suggestive of attenuated kinase activity for all variants, though to a lesser degree for 2 of them. Given the type of variants (all missense) and the pLI of 0.38 haploinsufficiency appears to be unlikely. A dominant-negative mechanism is favoured.

CDK8 is not associated with any phenotype in G2P.

As a result, CDK8 can be considered for upgrade to green or amber (if the degree of ID is relevant for the current panel).
Intellectual disability v2.787 CDK8 Konstantinos Varvagiannis reviewed gene: CDK8: 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: 30905399; Phenotypes: Generalized hypotonia, Feeding difficulties, Global developmental delay, Intellectual disability, Behavioral abnormality, Abnormality of cardiovascular system morphology, Hearing impairment, Abnormality of vision, Anorectal anomaly, Seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Renal tubulopathies v1.21 EHHADH Anna de Burca Classified gene: EHHADH as Amber List (moderate evidence)
Renal tubulopathies v1.21 EHHADH Anna de Burca Added comment: Comment on list classification: Single family reported with additional functional data. Gene demoted to amber pending further evidence for re-evaluation.
Renal tubulopathies v1.21 EHHADH Anna de Burca Gene: ehhadh has been classified as Amber List (Moderate Evidence).
Tubulointerstitial kidney disease v0.11 MUC1 Anna de Burca Classified gene: MUC1 as Green List (high evidence)
Tubulointerstitial kidney disease v0.11 MUC1 Anna de Burca Added comment: Comment on list classification: Rated as green due to numerous reports of variants within VNTR associated with mutant protein and single report of 2bp deletion outside VNTR with equivalent effect on protein. Note: variants within VNTR are unlikely to be detected by NGS.
Tubulointerstitial kidney disease v0.11 MUC1 Anna de Burca Gene: muc1 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.43 PODXL Eleanor Williams Phenotypes for gene: PODXL were changed from to Congenital nephrotic syndrome
Proteinuric renal disease v1.42 PODXL Eleanor Williams Publications for gene: PODXL were set to
Proteinuric renal disease v1.41 PODXL Eleanor Williams Mode of inheritance for gene: PODXL was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuric renal disease v1.40 PODXL Eleanor Williams Classified gene: PODXL as Green List (high evidence)
Proteinuric renal disease v1.40 PODXL Eleanor Williams Added comment: Comment on list classification: 2 cases with functional evidence that the variants may cause disease.
Additional case of patient with SRNS where variant is predicted to be deleterious. 1 case with a variant in an individual with FSGS but no evidence variant affects protein function.

A further case with a patient with compound heterozygous variants in PDXL and congenital nephrotic syndrome.
Proteinuric renal disease v1.40 PODXL Eleanor Williams Gene: podxl has been classified as Green List (High Evidence).
Proteinuric renal disease v1.39 PODXL Eleanor Williams edited their review of gene: PODXL: Added comment: PMID: 30523047 - Lin et al 2019 - heterozygous nonsense PODXL mutations in two unrelated pedigrees: c.C976T (p. Arg326X) in a Chinese pedigree that was associated with proteinuria and renal insufficiency, and c.C1133G (p. Ser378X) in a British–Indian AD-FSGS pedigree. They also provide evidence with in vitro study showing that the heterozygous nonsense PODXL mutations may be causative in AD-FSGS.

PMID: 29244787 - Kang et al 2017 - report a patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL. The 2 variants were a missense mutation at the initiation codon c.3G>T (p.Met1Ile) and a nonsense mutation at c.1023G>A (p.Trp341Ter).

PMID: 28117080 - Bierzynska et al 2017 - Whole exome sequencing was performed on 187 paediatric patients with Steroid Resistant Nephrotic Syndrome (SRNS). 1 case found with variant in PODXL c.1427A>T:p.His476Leu which is predicted to be deleterious.

PMID: 24048372 - Barua et al 2014 - exome sequencing of affected cousins from an autosomal dominant pedigree with FSGS identified a cosegregating private variant, PODXL p.L442R. However, this change does not alter protein stability, extracellular domain glycosylation, cell surface expression, global subcellular localization, or interaction with its intracellular binding partner ezrin.; Changed publications: PMID: 30523047, PMID: 29244787; Changed phenotypes: Congenital nephrotic syndrome
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris commented on gene: TTN: Loss of function variants are simpler to classify but missense variants are also reported as pathogenic. The analysis of titin variants is more complex than this proforma allows for
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 DES Elizabeth Harris reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 11073539, PMID: 19433360, PMID: 10545598; Phenotypes: myofibrillar myopathy, cardiomyopathy, limb girdle muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 HNRNPDL Elizabeth Harris reviewed gene: HNRNPDL: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 24647604, PMID: 15367920; Phenotypes: Limb girdle muscular dystrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuric renal disease v1.39 NUP107 Eleanor Williams Phenotypes for gene: NUP107 were changed from to Nephrotic syndrome, type 11 #616730
Proteinuric renal disease v1.38 NUP107 Eleanor Williams Publications for gene: NUP107 were set to
Proteinuric renal disease v1.37 NUP107 Eleanor Williams Mode of inheritance for gene: NUP107 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.36 NUP107 Eleanor Williams Classified gene: NUP107 as Green List (high evidence)
Proteinuric renal disease v1.36 NUP107 Eleanor Williams Added comment: Comment on list classification: 3 families with variants in this gene.
Proteinuric renal disease v1.36 NUP107 Eleanor Williams Gene: nup107 has been classified as Green List (High Evidence).
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris edited their review of gene: TTN: Changed rating: GREEN
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 GNE Elizabeth Harris reviewed gene: GNE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22883483, PMID: 24695763; Phenotypes: Distal myopathy, Limg girdle muscular dystrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Proteinuric renal disease v1.35 NUP107 Eleanor Williams commented on gene: NUP107: Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that although it is clearly rare with no variants found in >600 cases in Bristol, it is appropriate for inclusion in the panel.
Proteinuric renal disease v1.35 NUP107 Eleanor Williams edited their review of gene: NUP107: Added comment: Associated with Galloway-Mowat syndrome 7 (618348) and Nephrotic syndrome, type 11 (616730) in OMIM.

PMID: 26411495 - Miyake et al 2015 - biallelic NUP107 mutations in nine affected individuals who are from five unrelated families and show early-onset steroid-resistant nephrotic syndrome (SRNS). All individuals were compound heterozgyous, and all had a c.2492A>C (p.Asp831Ala) variant in common. This variant, c.2492A>C, was observed at a frequency of 0.0013587 only in HGVD, but not in the EVS, ExAC Browser, or in-house Japanese exome database. Three other variants were found in addition - c.469G>T (p.Asp157Tyr),c.969+1G>A (splice site) and c.1079_1083delAAGAG (p.Glu360Glyfs∗6).

PMID: 30179222 - Braun et al 2018 - homozgyous or compound heterozygous variants found in 7 families with SRNS.. The same homozygous missense mutation (c.303G>A, p.Met101Ile) in NUP107 was detected 5 consanguineous families with SRNS and represents a South Asian founder allele. They also detected a homozygous missense mutation of NUP107 (c.2666A>G, p.Tyr889Cys) in family A3825 and 2 compound heterozygous alleles (c.1021dup, p.Glu341Glyfs*3, and c.2129_2131delAAG, p.Glu710del) of NUP107 in family A1830.; Changed publications: PMID: 26411495, PMID 30179222
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 SYNE2 Elizabeth Harris reviewed gene: SYNE2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 17761684, PMID: 19542096; Phenotypes: Emery Dreifuss muscular dystrophy, congenital muscular dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris reviewed gene: TTN: Rating: ; Mode of pathogenicity: None; Publications: PMID: 25772186, PMID: 26392295, PMID: 26581302, PMID: 28716623; Phenotypes: Limb girdle muscular dystrophy, Distal myopathy, Myofibrillar myopathy, Congenital myopathy, dilated cardiomyopathy; Mode of inheritance: None; Current diagnostic: yes
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris Deleted their review
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris edited their review of gene: TTN: Changed publications: PMID: 28716623, PMID: 26381502, PMID: 25772186; Changed phenotypes: Limb girdle muscular dystrophy, congenital myopathy, myofibrillar myopathy, distal myopathy
Childhood solid tumours cancer susceptibility v1.2 Ellen McDonagh Panel name changed from Childhood solid tumours pertinent cancer susceptibility to Childhood solid tumours cancer susceptibility
List of related panels changed from Childhood to Childhood;Childhood solid tumours pertinent cancer susceptibility
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.15 TTN Elizabeth Harris reviewed gene: TTN: 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: PMID: 28716623; Phenotypes: Limb girdle muscular dystrophy, congenital myopathy, myofibrillar myopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Childhood solid tumours cancer susceptibility v1.1 TRIP13 Ellen McDonagh gene: TRIP13 was added
gene: TRIP13 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIP13 were set to Mosaic variegated aneuploidy syndrome 3 617598
Childhood solid tumours cancer susceptibility v1.1 TRIM37 Ellen McDonagh gene: TRIM37 was added
gene: TRIM37 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TRIM37 were set to Mulibrey nanism 253250
Childhood solid tumours cancer susceptibility v1.1 SQSTM1 Ellen McDonagh gene: SQSTM1 was added
gene: SQSTM1 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SQSTM1 were set to Paget disease of bone 3 167250; Osteosarcoma
Childhood solid tumours cancer susceptibility v1.1 SLX4 Ellen McDonagh gene: SLX4 was added
gene: SLX4 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SLX4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLX4 were set to Fanconi anemia, complementation group P, 613951
Childhood solid tumours cancer susceptibility v1.1 REST Ellen McDonagh gene: REST was added
gene: REST was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: REST was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: REST were set to {Wilms tumor 6, susceptibility to} 616806
Childhood solid tumours cancer susceptibility v1.1 PDGFRA Ellen McDonagh gene: PDGFRA was added
gene: PDGFRA was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDGFRA were set to Familial GIST; Gastrointestinal stromal tumor, somatic 606764
Childhood solid tumours cancer susceptibility v1.1 NSD1 Ellen McDonagh gene: NSD1 was added
gene: NSD1 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NSD1 were set to Sotos syndrome 1, 117550
Childhood solid tumours cancer susceptibility v1.1 HRAS Ellen McDonagh Source Expert Review Amber was added to HRAS.
Added phenotypes Costello syndrome for gene: HRAS
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Childhood solid tumours cancer susceptibility v1.1 GPC3 Ellen McDonagh gene: GPC3 was added
gene: GPC3 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: GPC3 were set to Wilms tumor, somatic, 194070; Simpson-Golabi-Behmel syndrome, type 1, 312870
Childhood solid tumours cancer susceptibility v1.1 FANCB Ellen McDonagh gene: FANCB was added
gene: FANCB was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FANCB were set to Fanconi anemia, complementation group B, 300514
Childhood solid tumours cancer susceptibility v1.1 EZH2 Ellen McDonagh gene: EZH2 was added
gene: EZH2 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: EZH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EZH2 were set to Weaver syndrome, 277590
Childhood solid tumours cancer susceptibility v1.1 DIS3L2 Ellen McDonagh gene: DIS3L2 was added
gene: DIS3L2 was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000
Childhood solid tumours cancer susceptibility v1.1 BUB1B Ellen McDonagh gene: BUB1B was added
gene: BUB1B was added to Childhood solid tumours pertinent cancer susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1 257300
Proteinuric renal disease v1.35 DHFR Eleanor Williams edited their review of gene: DHFR: Added comment: After checking with Elizabeth Watson, it was concluded that this gene was rating initially green in error. There is no evidence to support its inclusion on this panel.; Changed rating: RED
Proteinuric renal disease v1.35 ARHGDIA Eleanor Williams commented on gene: ARHGDIA: Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that although it is clearly rare with no variants found in >600 cases in Bristol, it is appropriate for inclusion in the panel.
Intellectual disability v2.787 ARHGEF6 Richard Scott commented on gene: ARHGEF6: Literature review identifies lack of clarity about published data on this gene. As per note in OMIM entry:

ARHGEF6, IVS1AS, T-C, -11 (rs140322310)
RCV000012185
This variant, formerly titled MENTAL RETARDATION, X-LINKED 46, has been reclassified based on a review of the ExAC database by Hamosh (2018).
In affected males in a large Dutch family with nonspecific X-linked mental retardation (MRX46; 300436), Kutsche et al. (2000) identified a mutation in the ARHGEF6 gene. The base change IVS1-11T-C had a marginal effect on the predicted splicing efficiency but was not detected in 170 control chromosomes. In affected males, RT-PCR amplification demonstrated products of 2 different sizes: a larger amplicon corresponding to the wildtype fragment, and a smaller amplicon in which exon 1 was spliced to exon 3. Thus, all mentally retarded males in the MRX46 family exhibited enhanced skipping of exon 2.
Hamosh (2018) found that the IVS1-11T-C variant (rs140322310) was present in 53 hemizygotes in the ExAC database (November 21, 2018), suggesting that the variant is not pathogenic
Intellectual disability v2.787 ARHGEF6 Richard Scott reviewed gene: ARHGEF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 300436; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Proteinuric renal disease v1.35 ITGA3 Eleanor Williams commented on gene: ITGA3: Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that this gene should be rated green on this panel.
Proteinuric renal disease v1.35 MAGI2 Eleanor Williams Phenotypes for gene: MAGI2 were changed from to Nephrotic syndrome, type 15 617609
Proteinuric renal disease v1.34 MAGI2 Eleanor Williams Publications for gene: MAGI2 were set to
Proteinuric renal disease v1.33 MAGI2 Eleanor Williams Mode of inheritance for gene: MAGI2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.32 MAGI2 Eleanor Williams Classified gene: MAGI2 as Green List (high evidence)
Proteinuric renal disease v1.32 MAGI2 Eleanor Williams Added comment: Comment on list classification: Rating green as there are 4 cases reported.
Proteinuric renal disease v1.32 MAGI2 Eleanor Williams Gene: magi2 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.31 MAGI2 Eleanor Williams commented on gene: MAGI2: Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that although the reported cases have slightly different phenotypes, these are sufficiently similar to have the same pathophysiological basis. Bristol also have some unpublished cases.
Proteinuric renal disease v1.31 MAGI2 Eleanor Williams edited their review of gene: MAGI2: Added comment: Associated with Nephrotic syndrome, type 15 (617609) in OMIM.

PMID: 29773874 - Ashraf et al 2018 - identified homozygous truncating mutations in the MAGI2 gene (p.Gly39* and p.Tyr746*) in two individuals from unrelated families with SRNS and neurologic impairment.

PMID: 27932480 - Bierzynska et al 2017 - detected two unique frameshift mutations and one duplication in three patients (two families); Two siblings (175 and 175S) shared the same homozygous frameshift deletion c.3998delG:p.(Gly1333Alafs*141). The patient with the sporadic case (180) exhibited compound heterozygosity: a deletion (paternal) resulting in a premature stop codon c.64_71delAGGAACCC:p.(Arg22Glyfs*7) together with a duplication (maternal) c.3526_3533dupCTGGCAGA:p.(Glu1178Aspfs*9). All three variants were absent in the ExAC database.; Changed publications: PMID: 29773874, PMID: 27932480
Proteinuric renal disease v1.31 GLA Eleanor Williams Publications for gene: GLA were set to
Proteinuric renal disease v1.30 GLA Eleanor Williams Phenotypes for gene: GLA were changed from to Fabry disease 301500
Proteinuric renal disease v1.29 GLA Eleanor Williams Mode of inheritance for gene: GLA was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Proteinuric renal disease v1.28 GLA Eleanor Williams Classified gene: GLA as Amber List (moderate evidence)
Proteinuric renal disease v1.28 GLA Eleanor Williams Added comment: Comment on list classification: Rating Amber until a review of the prevalence of proteinuria in Fabry disease patients is done.
Proteinuric renal disease v1.28 GLA Eleanor Williams Gene: gla has been classified as Amber List (Moderate Evidence).
Proteinuric renal disease v1.27 GLA Eleanor Williams commented on gene: GLA: Proteinuria is a feature of Fabry disease, but the GMS renal specialist test group will review how common proteinuria is in patients with this syndrome. Rating Amber for now.
Proteinuric renal disease v1.27 GLA Eleanor Williams commented on gene: GLA: GLA is associated with Fabry disease (301500) in OMIM with numerous cases reported.
Proteinuric renal disease v1.27 WDR73 Eleanor Williams edited their review of gene: WDR73: Added comment: WDR73 is associated with Galloway-Mowat syndrome 1 (251300) in OMIM.

Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of Galloway-Mowat syndrome, and WDR73 should be included on the Proteinuric renal disease panel.

PMID: 26123727 - Vodopiutz et al 2015. Report 2 patients from unrelated consanguineous families diagnosed with Galloway-Mowat syndrome. One with Indian one with Turkish ethnicity. Two variants identified, one missense, the other truncating; c.287G>A p.(Arg96Lys) and c.940C>T p.(Gln314*).

PMID: 25466283 - Colin et al 2014. Report 2 families with children with Galloway-Mowat syndrome. In family A (Moroccan) there are two affected children. One developed proteinuria, the other did not (at age 7). A homozygous A nonsense WDR73 mutation (c.129T>G [p.Tyr43∗]) was identified. In family B (consanguineous Turkish family) with one affected child who showed proteinuria as part of the phenotype, they detected another homozygous frameshift mutation in WDR73 (c.766dupC [p.Arg256Profs∗18]). Both variants segregated with the disease in the families, and neither is referenced in the NHLBI Exome Variant Server or in dbSNP.

PMID: 25873735 - Ben-Omran et al. (2015) - In 2 sisters, born of consanguineous Arab parents, with GAMOS1, identified a homozygous truncating mutation in the WDR73 gene (Q235X). One sister had proteinuria and other findings are suggestive of nephrotic disease (age 11 years), and the other sister at age 5 had findings suggestive of early features that might progress towards nephrotic disease.

PMID: 26070982 - Jinks et al. (2015) - report 27 Amish patients with GAMOS1 and identified a homozygous truncating mutation in the WDR73 gene. 57% developed steroid non-responsive, fluctuating proteinuria.; Changed publications: PMID: 26123727, PMID: 25466283
Proteinuric renal disease v1.27 TP53RK Eleanor Williams Phenotypes for gene: TP53RK were changed from to Galloway-Mowat syndrome 4 #617730
Proteinuric renal disease v1.26 TP53RK Eleanor Williams Publications for gene: TP53RK were set to
Proteinuric renal disease v1.25 TP53RK Eleanor Williams Mode of inheritance for gene: TP53RK was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.24 TP53RK Eleanor Williams Classified gene: TP53RK as Green List (high evidence)
Proteinuric renal disease v1.24 TP53RK Eleanor Williams Added comment: Comment on list classification: Changing rating from red to green as there are 3 unrelated families with variants in this gene with Galloway-Mowatt syndrome.
Proteinuric renal disease v1.24 TP53RK Eleanor Williams Gene: tp53rk has been classified as Green List (High Evidence).
Proteinuric renal disease v1.23 TP53RK Eleanor Williams commented on gene: TP53RK: TP53RK is associated with Galloway-Mowat syndrome 4 (617730) in OMIM.

Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of Galloway-Mowat syndrome, and TP53RK should be included on the Proteinuric renal disease panel.

PMID: 28805828 - Braun et al 2017 - 4 patients from 3 unrelated families with Galloway-Mowat syndrome-4. Compound heterozygous or homozygous variants (4 different variants) found in the TP53RK gene. Functional data suggests the variants impaired protein functionality.
Proteinuric renal disease v1.23 NUP133 Eleanor Williams Phenotypes for gene: NUP133 were changed from to ?Galloway-Mowat syndrome 8 618349; Nephrotic syndrome, type 18 618177
Proteinuric renal disease v1.22 NUP133 Eleanor Williams Publications for gene: NUP133 were set to
Proteinuric renal disease v1.21 NUP133 Eleanor Williams Mode of inheritance for gene: NUP133 was changed from to BIALLELIC, autosomal or pseudoautosomal
Proteinuric renal disease v1.20 NUP133 Eleanor Williams edited their review of gene: NUP133: Added comment: This gene has a provisional association with ?Galloway-Mowat syndrome 8 (618349) and an association with Nephrotic syndrome, type 18 (618177) in OMIM.

Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of this condition, and NUP133 should be included on the Proteinuric renal disease panel.

PMID: 30179222 - Braun et al. (2018) - 2 families with nonsyndromic SRNS. In consanguineous family F797-21 they identified a homozygous (c.2922T>G, p.Ser974Arg) variant in 1 patient, and in a second family they identified compound heterozygous missense mutations (c.691C>G, p.Arg231Gly, and c.3164T>C, p.Leu1055Ser) in two siblings (A2174-21 and A2174-22).

PMID: 30427554 - Fujita et al (2018) - identified a homozygous NUP133 mutation, c.3335-11T>A, which results in the insertion of 9bp of intronic sequence between exons 25 and 26 in the mutant transcript. A nup133-knockdown zebrafish model exhibited microcephaly, fewer neuronal cells, underdeveloped glomeruli, and fusion of the foot processes of the podocytes, which mimicked human GAMOS features. nup133 morphants could be rescued by human wild-type NUP133 mRNA but not by mutant mRNA; Changed publications: PMID: 30179222
Proteinuric renal disease v1.20 LAGE3 Eleanor Williams Phenotypes for gene: LAGE3 were changed from to Galloway-Mowat syndrome 2, X-linked #301006
Proteinuric renal disease v1.19 LAGE3 Eleanor Williams Publications for gene: LAGE3 were set to
Proteinuric renal disease v1.18 LAGE3 Eleanor Williams Mode of inheritance for gene: LAGE3 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Proteinuric renal disease v1.17 LAGE3 Eleanor Williams Classified gene: LAGE3 as Green List (high evidence)
Proteinuric renal disease v1.17 LAGE3 Eleanor Williams Added comment: Comment on list classification: Changing this gene from red to green as 3 unrelated cases of variants in this gene in patients with Galloway-Mowat syndrome have been reported.
Proteinuric renal disease v1.17 LAGE3 Eleanor Williams Gene: lage3 has been classified as Green List (High Evidence).
Proteinuric renal disease v1.16 LAGE3 Eleanor Williams commented on gene: LAGE3: LAGE3 is associated with Galloway-Mowat syndrome 2, X-linked (#301006) in OMIM. Following discussion with some members of the GMS Renal Specialist Test group on 2019-03-22 it was agreed that proteinuria is a relevant feature of this condition, and LAGE3 should be included on the Proteinuric renal disease panel.

PMID: 28805828 - Braun et al 2017 - hemizygous mutations in the LAGE3 gene were identified ion 4 male patients from 3 unrelated families with X-linked Galloway-Mowat syndrome-2. Three different variants (2 missense, one splice site). Patients with different ethnic backgrounds.
Optic neuropathy v1.111 TIMM8A Ivone Leong Classified gene: TIMM8A as Amber List (moderate evidence)
Optic neuropathy v1.111 TIMM8A Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TIMM8A is associated with a phenotype in both OMIM and Gene2Phenotype. Optic atrophy appears to be a minor feature of the condition and based on previous reviews, it was decided that not enough evidence is available to promote this to a green. However, if any new variants that explains the phenotype is available in the future then promotion to green gene status can be considered.
Optic neuropathy v1.111 TIMM8A Ivone Leong Gene: timm8a has been classified as Amber List (Moderate Evidence).
Optic neuropathy v1.110 TMEM126A Ivone Leong Classified gene: TMEM126A as Amber List (moderate evidence)
Optic neuropathy v1.110 TMEM126A Ivone Leong Added comment: Comment on list classification: Promoted from red to amber. TMEM126A is associated with a phenotype in OMIM but not Gene2Phenotype. There are 2 publications (PMID: 19327736, 20405026, 22815638) reporting on unrelated patients with optic atrophy who have the same variant (c.163C>T, p.R55X) who are from Algeria, Morocco and Tunisia. Haplotype analysis was consistent with a founder affect (PMID: 19327736). Based on this, it was decided that there is not enough evidence to promote it to green.
Optic neuropathy v1.110 TMEM126A Ivone Leong Gene: tmem126a has been classified as Amber List (Moderate Evidence).
Inherited white matter disorders v1.61 SON Ellen Thomas gene: SON was added
gene: SON was added to Inherited white matter disorders. Sources: Other
Mode of inheritance for gene: SON was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SON were set to ZTTK SYNDROME
Added comment: Green on ID panel, can include white matter abnormalities according to OMIM.
Sources: Other
Catecholaminergic polymorphic VT v1.14 TECRL Ellen McDonagh Classified gene: TECRL as Amber List (moderate evidence)
Catecholaminergic polymorphic VT v1.14 TECRL Ellen McDonagh Added comment: Comment on list classification: Gene submitted by the South West GLH. Promoted from Red to Amber for discussion with the NHSE GMS cardio specialist grou.
Catecholaminergic polymorphic VT v1.14 TECRL Ellen McDonagh Gene: tecrl has been classified as Amber List (Moderate Evidence).
Brugada syndrome and cardiac sodium channel disease v1.39 KCNH2 Ellen McDonagh Classified gene: KCNH2 as Amber List (moderate evidence)
Brugada syndrome and cardiac sodium channel disease v1.39 KCNH2 Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Amber due to additional expert review from the South West GLH and ClinGen group conclusion that there is not enough evidence for this to be involved in Brugada syndrome. Final decision to be made by the NHSE GMS specialist group.
Brugada syndrome and cardiac sodium channel disease v1.39 KCNH2 Ellen McDonagh Gene: kcnh2 has been classified as Amber List (Moderate Evidence).
Thoracic aortic aneurysm or dissection v1.90 FOXE3 Rebecca Whittington commented on gene: FOXE3: 617349 susceptibility to aortic aneurysm
Thoracic aortic aneurysm or dissection v1.90 CBS Rebecca Whittington commented on gene: CBS: 236200 Homocystinuria - clinical synopsis for homocystinuria on OMIM includes tall stature, ectopia lentis, myopia, mitral valve prolapse, pectus, kyphoscoliosis and arachnodactyly - phenotypic overlap with Marfan/EDS/LDS syndromic features. Gene is green in EDS panel.
Thoracic aortic aneurysm or dissection v1.90 TGFBR2 Rebecca Whittington commented on gene: TGFBR2: 610168 Loeys-Dietz syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 TGFBR1 Rebecca Whittington commented on gene: TGFBR1: 609192 Loeys-Dietz syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 TGFB3 Rebecca Whittington commented on gene: TGFB3: 615582 Loeys-Dietz syndrom; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 TGFB2 Rebecca Whittington commented on gene: TGFB2: 614816 Loeys-Dietz syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 SMAD4 Rebecca Whittington commented on gene: SMAD4: 139210 Myhre syndrome - syndromic with cardiac abnormalities including aortic stenosis/coarctation. HGMD - 6 variants for Myher syndrome but phenotype varies for patients with same variant.
Thoracic aortic aneurysm or dissection v1.90 SMAD3 Rebecca Whittington commented on gene: SMAD3: 613795 Loeys-Dietz syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 SMAD2 Rebecca Whittington commented on gene: SMAD2: No OMIM association; HGMD Loeys-Dietz syndrome
Thoracic aortic aneurysm or dissection v1.90 SLC2A10 Rebecca Whittington commented on gene: SLC2A10: 208050 Arterial tortuosity syndrome - autosomal recessive disorder characterized by tortuosity, elongation, stenosis and aneurysm formation in the major arteries
Thoracic aortic aneurysm or dissection v1.90 SKI Rebecca Whittington commented on gene: SKI: 182212 Shprintzen-Goldberg syndrome - syndromic CTD including aortic root dilation
Thoracic aortic aneurysm or dissection v1.90 PRKG1 Rebecca Whittington commented on gene: PRKG1: 615436 FTAAD non-syndromic
Thoracic aortic aneurysm or dissection v1.90 PLOD1 Rebecca Whittington commented on gene: PLOD1: 225400 Kyphoscoliotic Ehlers-Danlos syndrome
Thoracic aortic aneurysm or dissection v1.90 NOTCH1 Rebecca Whittington commented on gene: NOTCH1: 616028 Adams-Oliver syndrome - vascular abnormalities with congenital heart defects and limb abnormalities; 109730 Aortic valve disease - BAV
Thoracic aortic aneurysm or dissection v1.90 MYLK Rebecca Whittington commented on gene: MYLK: 613780 FTAAD; non-syndromic; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 MYH11 Rebecca Whittington commented on gene: MYH11: 132900 FTAAD; non-syndromic; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 LOX Rebecca Whittington commented on gene: LOX: 617168 Familial thoracic aortic aneursym
Thoracic aortic aneurysm or dissection v1.90 FLNA Rebecca Whittington commented on gene: FLNA: 314400 Cardiac valvular dysplasia, X-linked; 300048 Congenital short bowel syndrome; 309350 Melnick-Needles syndrome all have aortic involvement
Thoracic aortic aneurysm or dissection v1.90 FBN2 Rebecca Whittington commented on gene: FBN2: 121050 Contractural arachnodactyly - CTD including aortic root dilatation, patent ductus arteriosus, BAV, VSD, ASD, mitral valve prolapse and mitral regurgitation
Thoracic aortic aneurysm or dissection v1.90 FBN1 Rebecca Whittington commented on gene: FBN1: 154700 Marfan syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 ELN Rebecca Whittington commented on gene: ELN: 123700 Cutis Laxa; 185500 supravalvar aortic stenosis; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 EFEMP2 Rebecca Whittington commented on gene: EFEMP2: 614437 Cutis Laxa - CTD phenotype including aortic/pulmonory artery anuerysms and arterial/venous tortuosity, arterial stenosis and vascular fragility. Missense, splicing and frameshift variants
Thoracic aortic aneurysm or dissection v1.90 COL5A2 Rebecca Whittington commented on gene: COL5A2: 130010 Classic Ehlers-Danlos syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 COL5A1 Rebecca Whittington commented on gene: COL5A1: 130000 Classic Ehlers-Danlos syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 COL3A1 Rebecca Whittington commented on gene: COL3A1: 130050 Vascular Ehlers-Danlos syndrome; well characterised gene
Thoracic aortic aneurysm or dissection v1.90 ACTA2 Rebecca Whittington commented on gene: ACTA2: 611788 FTAAD, nonsyndromic, age of onset 3-79. Well characterised FTAAD gene.
Thoracic aortic aneurysm or dissection v1.90 ZNF469 Rebecca Whittington commented on gene: ZNF469: 229200 Brittle cornea syndrome 1 - marfaniod CTD with mitral valve prolapse
Thoracic aortic aneurysm or dissection v1.90 TNXB Rebecca Whittington commented on gene: TNXB: 606408 Ehlers-Danlos syndrome, classic-like, 1 -syndromic CTD with quadricuspid aortic valve and MVP.
Thoracic aortic aneurysm or dissection v1.90 SLC39A13 Rebecca Whittington commented on gene: SLC39A13: 612350 Ehlers-Danlos syndrome, spondylodysplastic type, 3 - no cardiac phenotype on OMIM; no relevant phenotypes on HGMD and only 3 variants described in association with EDS
Thoracic aortic aneurysm or dissection v1.90 MFAP5 Rebecca Whittington commented on gene: MFAP5: 616166 Aortic aneurysm, familial thoracic 9 - syndromic - also pectus and arachnodactyly
Thoracic aortic aneurysm or dissection v1.90 LTBP2 Rebecca Whittington commented on gene: LTBP2: 614819 Weill-Marchesani syndrome 3 - short stature, myopia and aortic/pulmonary valve stenosis; Most HGMD variants associate with glaucoma
Thoracic aortic aneurysm or dissection v1.90 KCNN1 Rebecca Whittington commented on gene: KCNN1: No disease association on OMIM and HGMD has no entries for this gene; nothing relevant on PubMed search
Thoracic aortic aneurysm or dissection v1.90 HNRNPK Rebecca Whittington commented on gene: HNRNPK: 615580 Au-Kline syndrome - syndromic CTD including aortic root dilation and cardiac malformations.
Thoracic aortic aneurysm or dissection v1.90 FKBP14 Rebecca Whittington commented on gene: FKBP14: 614557 Ehlers-Danlos syndrome, kyphoscoliotic type, 2 - rare aortic rupture and occasional patent ductus arteriosus, with other cardiac involvement being tricuspid and mitral valve insufficiency.
Thoracic aortic aneurysm or dissection v1.90 FBLN5 Rebecca Whittington commented on gene: FBLN5: 614434/219100 AD/AR Cutis Laxa - cardiac phenotype includes ascending aortic aneurysm, vascular tortuosity and SVAS. Most HGMD variants (10) are associated with age-related macular degeneration, but 7 variants reported in association with cutis laxa
Thoracic aortic aneurysm or dissection v1.90 COL9A3 Rebecca Whittington commented on gene: COL9A3: 600969 Epiphyseal dysplasia, multiple, 3, with or without myopathy; no cardiac involment on OMIM and no relevant phenotype on HGMD
Thoracic aortic aneurysm or dissection v1.90 COL9A2 Rebecca Whittington commented on gene: COL9A2: 614284 AR Stickler syndrome; 600204 AD multiple epiphyseal dysplasia; no mention of cardiac phenotype on OMIM and no relevant phenotype on HGMD
Thoracic aortic aneurysm or dissection v1.90 COL9A1 Rebecca Whittington commented on gene: COL9A1: 614135 Multiple epiphyseal dysplasia; 614134 Stickler syndrome, type IV; no mention of cardiac involvement on OMIM and no relevant phenotypes on HGMD
Thoracic aortic aneurysm or dissection v1.90 COL4A1 Rebecca Whittington commented on gene: COL4A1: 611773 Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps - aneurysms are of carotid and cerebral arteries; 180000 tortuosity of retinal arteries; HGMD also checked; phenotype is small vessel brain/retinal disease
Thoracic aortic aneurysm or dissection v1.90 COL2A1 Rebecca Whittington commented on gene: COL2A1: A number of syndromic and non-syndromic skeletal dysplasia/CTD described on OMIM. Only one with any cardiac involvement is 108300 Stickler syndrome (mitral valve prolapse)
Thoracic aortic aneurysm or dissection v1.90 COL11A2 Rebecca Whittington commented on gene: COL11A2: 601868/609706 AD/AR Deafness; 614524 AD/AR Fibrochondrogenesis 2; 184840/215150 AD/AR Otospondylomegaepiphyseal dysplasia; no cardiac involvement on OMIM and no relevant phenotypes on HGMD
Thoracic aortic aneurysm or dissection v1.90 COL11A1 Rebecca Whittington commented on gene: COL11A1: 154780 AD Marshall syndrome; 604841 AD Stickler syndrome, type II; 228520 AR Fibrochondrogenesis 1. None of these have aortic involvement (Patent foramen ovale in Fibrochondrogeneis 1); no relevant phenotypes listed on HGMD
Thoracic aortic aneurysm or dissection v1.90 CHST14 Rebecca Whittington commented on gene: CHST14: 601776 Ehlers-Danlos syndrome, musculocontractural type 1 - AR EDS with some cardiac involvement (valve anomolies/ASD)
Thoracic aortic aneurysm or dissection v1.90 B4GALT7 Rebecca Whittington commented on gene: B4GALT7: 130070 spondylodysplastic Ehler's Danlos syndrome. Only 9 variants on HGMD, mostly missense. This is a progeriod Ehlers Danlos syndrome that does not have any cardiac involvement but does have other features of connective tissue syndromes.
Thoracic aortic aneurysm or dissection v1.90 ATP7A Rebecca Whittington commented on gene: ATP7A: 309400 XLR Menkes disease; 304150 Occipital horn syndrome - some overlap with connective tissue disorders. Disorders of copper metabolism with neurological impariment.
Thoracic aortic aneurysm or dissection v1.90 ATP6V0A2 Rebecca Whittington commented on gene: ATP6V0A2: 219200 Cutis laxa; 278250 wrinkly skin syndrome; no cardiac phenotype but some overlapping skin/joint laxity features with MFS/EDS type syndromes. Over 40 variants associated with cutis laxa on HGMD.
Thoracic aortic aneurysm or dissection v1.90 ALDH18A1 Rebecca Whittington commented on gene: ALDH18A1: AD (606603)/AR (219150) cutis laxa; rarely associated with aortic insufficiency or thin aortic valve. Dislocations; joint laxity; spinal curvature; thin translucent lax skin are all features which overlap some of the MFS/EDS spectrum of syndromes.
Thoracic aortic aneurysm or dissection v1.90 ADAMTS2 Rebecca Whittington commented on gene: ADAMTS2: 225410 dermatospraxis type Ehlers-Danlos syndrome. OMIM phenotype is skin fragility and bruising without any cardiovascular phenotype. No aortopathy associations on OMIM
Thoracic aortic aneurysm or dissection v1.90 ACVR1 Rebecca Whittington commented on gene: ACVR1: 135100 Fibrodysplasia ossificans progressiva - no cardiovascular features on OMIM; no aortopathy associations on HGMD
Thoracic aortic aneurysm or dissection v1.90 ABCC6 Rebecca Whittington commented on gene: ABCC6: 264800 AR pseudoxanthoma elasticum; 177850 AD psuedoxanthoma elasticum forme fruste - associated with ateriosclerosis and calcification. HGMD one variant associated with abdominal aortic aneurysm
Thoracic aortic aneurysm or dissection v1.90 PKD2 Rebecca Whittington commented on gene: PKD2: 613095 Polycystic kidney disease 2
Thoracic aortic aneurysm or dissection v1.90 PKD1 Rebecca Whittington commented on gene: PKD1: 173900 polycystic kidney disease (ADPKD); OMIM mentions cardiac features as valvular disease and intracranial aneurysm. No aortopathy phenotype on HGMD.
Thoracic aortic aneurysm or dissection v1.90 MED12 Rebecca Whittington commented on gene: MED12: 309520 Lujan-Fryns syndrome - connective tissue disorder with ascending aortic aneurysm, ASD/VSD according to OMIM
Thoracic aortic aneurysm or dissection v1.90 FLCN Rebecca Whittington commented on gene: FLCN: 135150 Birt-Hogg-Dube syndrome; 173600 primary spontaneous pneumothorax - neither of these have mention of cardiac phenotype but do mention pneumothorax being typical of Marfan syndrome
Thoracic aortic aneurysm or dissection v1.90 COL1A2 Rebecca Whittington commented on gene: COL1A2: 617821 AD Ehlers-Danlos syndrome, arthrochalasia type - no cardiac involvement; 225320 AR Ehlers-Danlos syndrome, cardiac valvular type - aortic/mitral valve insufficiency
Thoracic aortic aneurysm or dissection v1.90 COL1A1 Rebecca Whittington commented on gene: COL1A1: 130060 AD Ehler's Danlos syndrome arthrochalasia type 1, which does not have a cardiac/aortopathy phenotype associated on OMIM; gene also causative of osteogeneisis imperfecta. Should this be included as it is similar situation to some of the red genes - involved in CTD but without aortopathy.
Thoracic aortic aneurysm or dissection v1.90 BGN Rebecca Whittington commented on gene: BGN: 300989 Meester-Loeys syndrome; phenotype includes aortic aneurysm and dissection as well as rare pulmonory and cerebral artery aneurysm in addition to other syndromic connective tissue phenotypes; female carriers variable phenotype from unaffected to fatal aortic dissection (OMIM).
Thoracic aortic aneurysm or dissection v1.90 ABL1 Rebecca Whittington commented on gene: ABL1: 617602 Congenital heart defects and skeletal malformations syndrome - includes ASD, VSD, aortic root dilation and coarctation of the aorta in addition to other syndromic connective tissue phenotypes; only two variants associated with this phenotype in HGMD, both from same publication
Short QT syndrome v1.10 SCN5A Rebecca Whittington commented on gene: SCN5A: Various (not SQT)
Short QT syndrome v1.10 CACNB2 Rebecca Whittington commented on gene: CACNB2: Brugada syndrome 4 611876
Short QT syndrome v1.10 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: No associated phenotype on OMIM
Short QT syndrome v1.10 SLC4A3 Rebecca Whittington commented on gene: SLC4A3: No associated phenotype on OMIM
Short QT syndrome v1.10 SLC22A5 Rebecca Whittington commented on gene: SLC22A5: Carnitine deficiency, systemic primary 212140
Short QT syndrome v1.10 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Short QT syndrome 2
Short QT syndrome v1.10 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Short QT syndrome 3
Short QT syndrome v1.10 KCNH2 Rebecca Whittington commented on gene: KCNH2: Short QT syndrome 2 (609621)
Short QT syndrome v1.10 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Timothy syndrome (601005); Brugada syndrome 3 (611875)
Progressive cardiac conduction disease v0.18 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (600919), Long QT syndrome 4 (600919)
Progressive cardiac conduction disease v0.18 GJA5 Rebecca Whittington commented on gene: GJA5: Atrial fibrillation, familial, 11 (614049), Atrial standstill, digenic (GJA5/SCN5A) (108770)
Progressive cardiac conduction disease v0.18 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: Atrial septal defect 7, with or without AV conduction defects (108900), Conotruncal heart malformations, variable (217095), Hypoplastic left heart (syndrome 2 (614435), Hypothyroidism, congenital nongoitrous, 5 (225250), Tetralogy of Fallot (187500), Ventricular septal defect 3 (614432)
Progressive cardiac conduction disease v0.18 TBX3 Rebecca Whittington commented on gene: TBX3: Ulnar-mammary syndrome (181450)
Progressive cardiac conduction disease v0.18 TBX5 Rebecca Whittington commented on gene: TBX5: Holt-Oram syndrome (142900)
Progressive cardiac conduction disease v0.18 EMD Rebecca Whittington commented on gene: EMD: Emery-Dreifuss muscular dystrophy 1, X-linked (OMIM 310300)
Progressive cardiac conduction disease v0.18 DES Rebecca Whittington commented on gene: DES: Myopathy, myofibrillar, 1 (601419); Cardiomyopathy, dilated, 1I (604765)
Progressive cardiac conduction disease v0.18 LMNA Rebecca Whittington commented on gene: LMNA: 115200 Cardiomyopathy, dilated, 1A
Progressive cardiac conduction disease v0.18 HCN4 Rebecca Whittington commented on gene: HCN4: Sick sinus syndrome 2 (163800)
Progressive cardiac conduction disease v0.18 TRPM4 Rebecca Whittington commented on gene: TRPM4: Progressive familial heart block, type IB (604559)
Progressive cardiac conduction disease v0.18 SCN5A Rebecca Whittington commented on gene: SCN5A: Heart block, nonprogressive (113900); Heart block, progressive, type IA (OMIM 113900)
Progressive cardiac conduction disease v0.18 SCN1B Rebecca Whittington commented on gene: SCN1B: Cardiac conduction defect, nonspecific (612838)
Progressive cardiac conduction disease v0.18 KCNK17 Rebecca Whittington commented on gene: KCNK17: Potassium channel, subfamily K, Member 17 (no MIM)
Long QT syndrome v1.26 SCN4B Rebecca Whittington commented on gene: SCN4B: Atrial fibrillation, familial, 17 (OMIM 611819), Long QT syndrome-10 (OMIM 611819).
Long QT syndrome v1.26 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (OMIM 600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (OMIM 604772)
Long QT syndrome v1.26 NOS1AP Rebecca Whittington commented on gene: NOS1AP: [QT interval, variation in] (OMIM %610741) - only association
Long QT syndrome v1.26 KCNE3 Rebecca Whittington commented on gene: KCNE3: ?Brugada syndrome 6 (OMIM 613119)
Long QT syndrome v1.26 CAV3 Rebecca Whittington commented on gene: CAV3: Cardiomyopathy, familial hypertrophic (OMIM 192600), Creatine phosphokinase, elevated serum (OMIM 123320), Long QT syndrome 9 (OMIM 611818), Myopathy, distal, Tateyama type (OMIM 614321), Rippling muscle disease (OMIM 606072).
Long QT syndrome v1.26 CALM1 Rebecca Whittington commented on gene: CALM1: Long QT syndrome 14 (OMIM 616247).Ventricular tachycardia, catecholaminergic polymorphic, 4 (OMIM 614916).
Long QT syndrome v1.26 AKAP9 Rebecca Whittington commented on gene: AKAP9: ?Long QT syndrome-11 (OMIM 611820)
Long QT syndrome v1.26 SNTA1 Rebecca Whittington commented on gene: SNTA1: Long QT syndrome 12 (OMIM 612955)
Long QT syndrome v1.26 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 (OMIM 614022), Brugada syndrome 1 (OMIM 601144), Cardiomyopathy, dilated, 1E (OMIM 601154), Heart block, nonprogressive (OMIM 113900), Heart block, progressive, type IA (OMIM 113900), Long QT syndrome-3 (OMIM 603830), Sick sinus syndrome 1 (OMIM 608567), Ventricular fibrillation, familial, 1 (OMIM 603829-AR), {Sudden infant death syndrome, susceptibility to} (OMIM 272120-AR).
Long QT syndrome v1.26 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Atrial fibrillation, familial, 3 (OMIM 607554), Jervell and Lange-Nielsen syndrome (OMIM 220400 - AR), Long QT syndrome 1 (OMIM 192500), Short QT syndrome 2 (609621), {Long QT syndrome 1, acquired, susceptibility to} (OMIM 192500)
Long QT syndrome v1.26 KCNJ5 Rebecca Whittington commented on gene: KCNJ5: Hyperaldosteronism, familial, type III (OMIM 613677), Long QT syndrome 13 (OMIM 613485).
Long QT syndrome v1.26 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Andersen syndrome (OMIM 170390), Atrial fibrillation, familial, 9 (OMIM 613980), Short QT syndrome 3 (OMIM 609622)
Long QT syndrome v1.26 KCNH2 Rebecca Whittington commented on gene: KCNH2: Long QT syndrome 2 (OMIM 613688), Short QT syndrome 1 (OMIM 609620), {Long QT syndrome 2, acquired, susceptibility to} (OMIM 613688)
Long QT syndrome v1.26 KCNE2 Rebecca Whittington commented on gene: KCNE2: Atrial fibrillation, familial, 4 (OMIM 611493), Long QT syndrome 6 (OMIM 613693)
Long QT syndrome v1.26 KCNE1 Rebecca Whittington commented on gene: KCNE1: Jervell and Lange-Nielsen syndrome 2 (OMIM 612347 - AR), Long QT syndrome 5 (OMIM 613695 - AD)
Long QT syndrome v1.26 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Brugada syndrome 3 (OMIM 611875), Timothy syndrome (OMIM 601005)
Long QT syndrome v1.26 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)
Long QT syndrome v1.26 CALM3 Rebecca Whittington commented on gene: CALM3: No links to phenotypes on OMIM
Long QT syndrome v1.26 CALM2 Rebecca Whittington commented on gene: CALM2: Long QT syndrome 15 (OMIM 616249)
Long QT syndrome v1.26 ALG10 Rebecca Whittington commented on gene: ALG10: {Long QT syndrome, acquired, reduced susceptibility to} (OMIM 613688)
Hypertrophic cardiomyopathy v1.53 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: Glycogen storage disease IIIa&b
Hypertrophic cardiomyopathy v1.53 TTR Rebecca Whittington commented on gene: TTR: Amyloidosis, hereditary, transthyretin-related (105210 )
Hypertrophic cardiomyopathy v1.53 FLNC Rebecca Whittington commented on gene: FLNC: Cardiomyopathy, familial hypertrophic, 26 (102565)
Hypertrophic cardiomyopathy v1.53 ACTN2 Rebecca Whittington commented on gene: ACTN2: Cardiomyopathy, hypertrophic, 23, with or without LVNC (612158)
Hypertrophic cardiomyopathy v1.53 TPM1 Rebecca Whittington commented on gene: TPM1: Cardiomyopathy, hypertrophic, 3 (115196)
Hypertrophic cardiomyopathy v1.53 TNNT2 Rebecca Whittington commented on gene: TNNT2: Cardiomyopathy, hypertrophic, 2 (115195)
Hypertrophic cardiomyopathy v1.53 TNNI3 Rebecca Whittington commented on gene: TNNI3: Cardiomyopathy, hypertrophic, 7 (613690 )
Hypertrophic cardiomyopathy v1.53 TNNC1 Rebecca Whittington commented on gene: TNNC1: Cardiomyopathy, hypertrophic, 13 (613243)
Hypertrophic cardiomyopathy v1.53 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: Cardiomyopathy, hypertrophic 6 (600858 )
Hypertrophic cardiomyopathy v1.53 PLN Rebecca Whittington commented on gene: PLN: Cardiomyopathy, hypertrophic, 18 (613874 )
Hypertrophic cardiomyopathy v1.53 MYL3 Rebecca Whittington commented on gene: MYL3: Cardiomyopathy, hypertrophic, 8 (160790 )
Hypertrophic cardiomyopathy v1.53 MYL2 Rebecca Whittington commented on gene: MYL2: Cardiomyopathy, hypertrophic, 10 (608758)
Hypertrophic cardiomyopathy v1.53 MYH7 Rebecca Whittington commented on gene: MYH7: Cardiomyopathy, hypertrophic, 1 (192600 )
Hypertrophic cardiomyopathy v1.53 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Cardiomyopathy, hypertrophic, 4 (115197)
Hypertrophic cardiomyopathy v1.53 LAMP2 Rebecca Whittington commented on gene: LAMP2: Danon disease (300257)
Hypertrophic cardiomyopathy v1.53 GLA Rebecca Whittington commented on gene: GLA: Fabry disease (301500)
Hypertrophic cardiomyopathy v1.53 FHL1 Rebecca Whittington commented on gene: FHL1: Myopathy, X-linked, with postural muscle atrophy; Emery-Dreifuss muscular dystrophy 6, X-linked (300696)
Hypertrophic cardiomyopathy v1.53 CSRP3 Rebecca Whittington commented on gene: CSRP3: Cardiomyopathy, hypertrophic, 12. 612124
Hypertrophic cardiomyopathy v1.53 ACTC1 Rebecca Whittington commented on gene: ACTC1: Cardiomyopathy, hypertrophic, 11 612098
Hypertrophic cardiomyopathy v1.53 TRIM63 Rebecca Whittington commented on gene: TRIM63: No OMIM phenotype
Hypertrophic cardiomyopathy v1.53 TMEM70 Rebecca Whittington commented on gene: TMEM70: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 (614052)
Hypertrophic cardiomyopathy v1.53 MYOZ2 Rebecca Whittington commented on gene: MYOZ2: Cardiomyopathy, hypertrophic, 16 (613838)
Hypertrophic cardiomyopathy v1.53 MYOM1 Rebecca Whittington commented on gene: MYOM1: No phenotype on OMIM, associations with HCM
Hypertrophic cardiomyopathy v1.53 VCL Rebecca Whittington commented on gene: VCL: Cardiomyopathy, hypertrophic, 15 (613255)
Hypertrophic cardiomyopathy v1.53 TTN Rebecca Whittington commented on gene: TTN: Cardiomyopathy, familial hypertrophic, 9 (613765)
Hypertrophic cardiomyopathy v1.53 TSFM Rebecca Whittington commented on gene: TSFM: Combined oxidative phosphorylation deficiency 3 (610505)
Hypertrophic cardiomyopathy v1.53 TCAP Rebecca Whittington commented on gene: TCAP: Cardiomyopathy, hypertrophic, 25 (607487)
Hypertrophic cardiomyopathy v1.53 SOS1 Rebecca Whittington commented on gene: SOS1: Noonan syndrome 4 (610773)
Hypertrophic cardiomyopathy v1.53 SLC25A4 Rebecca Whittington commented on gene: SLC25A4: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184); Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418)
Hypertrophic cardiomyopathy v1.53 SLC25A3 Rebecca Whittington commented on gene: SLC25A3: Mitochondrial phosphate carrier deficiency (610773)
Hypertrophic cardiomyopathy v1.53 SHOC2 Rebecca Whittington commented on gene: SHOC2: Noonan-like syndrome with loose anagen hair (607721)
Hypertrophic cardiomyopathy v1.53 SCO2 Rebecca Whittington commented on gene: SCO2: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (604377); Myopia 6 (608908)
Hypertrophic cardiomyopathy v1.53 RAF1 Rebecca Whittington commented on gene: RAF1: Noonan syndrome 5 (611553); LEOPARD syndrome 2 (611554); Cardiomyopathy, dilated, 1NN (615916)
Hypertrophic cardiomyopathy v1.53 PTPN11 Rebecca Whittington commented on gene: PTPN11: LEOPARD syndrome 1 (151100); Noonan syndrome 1 (163950)
Hypertrophic cardiomyopathy v1.53 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: No phenotype
Hypertrophic cardiomyopathy v1.53 NRAS Rebecca Whittington commented on gene: NRAS: Noonan syndrome 6 (613224)
Hypertrophic cardiomyopathy v1.53 MYO6 Rebecca Whittington commented on gene: MYO6: Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy (606346)
Hypertrophic cardiomyopathy v1.53 MT-TL1 Rebecca Whittington commented on gene: MT-TL1: No phenotype
Hypertrophic cardiomyopathy v1.53 MRPL3 Rebecca Whittington commented on gene: MRPL3: Combined oxidative phosphorylation deficiency 9 (614582)
Hypertrophic cardiomyopathy v1.53 MAP2K2 Rebecca Whittington commented on gene: MAP2K2: Cardiofaciocutaneous syndrome 4 (615280)
Hypertrophic cardiomyopathy v1.53 MAP2K1 Rebecca Whittington commented on gene: MAP2K1: Cardiofaciocutaneous syndrome 3 (615279)
Hypertrophic cardiomyopathy v1.53 LMNA Rebecca Whittington commented on gene: LMNA: Cardiomyopathy, dilated, 1A (115200) and others
Hypertrophic cardiomyopathy v1.53 LDB3 Rebecca Whittington commented on gene: LDB3: Cardiomyopathy, hypertrophic, 24 (601493)
Hypertrophic cardiomyopathy v1.53 KLF10 Rebecca Whittington commented on gene: KLF10: No phenotype
Hypertrophic cardiomyopathy v1.53 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Atrial fibrillation, familial, 3 (607554); Long QT syndrome 1 (192500) and others
Hypertrophic cardiomyopathy v1.53 HRAS Rebecca Whittington commented on gene: HRAS: Costello syndrome (218040)
Hypertrophic cardiomyopathy v1.53 GUSB Rebecca Whittington commented on gene: GUSB: Mucopolysaccharidosis VII (253220)
Hypertrophic cardiomyopathy v1.53 GLB1 Rebecca Whittington commented on gene: GLB1: GM1-gangliosidosis, type I, II, III (230500, 230600, 230650)
Hypertrophic cardiomyopathy v1.53 GAA Rebecca Whittington commented on gene: GAA: Glycogen storage disease II (232300)
Hypertrophic cardiomyopathy v1.53 FXN Rebecca Whittington commented on gene: FXN: Friedreich ataxia (229300)
Hypertrophic cardiomyopathy v1.53 FOXRED1 Rebecca Whittington commented on gene: FOXRED1: Mitochondrial complex I deficiency, nuclear type 19 (618241)
Hypertrophic cardiomyopathy v1.53 CRYAB Rebecca Whittington commented on gene: CRYAB: Cardiomyopathy, dilated, 1II (123590); Myopathy, myofibrillar, 2 (608810)
Hypertrophic cardiomyopathy v1.53 COA5 Rebecca Whittington commented on gene: COA5: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (616500)
Hypertrophic cardiomyopathy v1.53 CAV3 Rebecca Whittington commented on gene: CAV3: Cardiomyopathy, familial hypertrophic (192600 )
Hypertrophic cardiomyopathy v1.53 CASQ2 Rebecca Whittington commented on gene: CASQ2: Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)
Hypertrophic cardiomyopathy v1.53 CALR3 Rebecca Whittington commented on gene: CALR3: omim 611414 no phenotype
Hypertrophic cardiomyopathy v1.53 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Brugada syndrome 3 (611875); Timothy syndrome (601005)
Hypertrophic cardiomyopathy v1.53 BRAF Rebecca Whittington commented on gene: BRAF: Cardiofaciocutaneous syndrome (115150)
Hypertrophic cardiomyopathy v1.53 ATP5E Rebecca Whittington commented on gene: ATP5E: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 (614053)
Hypertrophic cardiomyopathy v1.53 AGL Rebecca Whittington commented on gene: AGL: VLCAD deficiency 1A&B (232400)
Hypertrophic cardiomyopathy v1.53 ACADVL Rebecca Whittington commented on gene: ACADVL: VLCAD deficiency (201475)
Hypertrophic cardiomyopathy v1.53 NEXN Rebecca Whittington commented on gene: NEXN: Cardiomyopathy, hypertrophic, 20 (613876 )
Hypertrophic cardiomyopathy v1.53 MYPN Rebecca Whittington commented on gene: MYPN: Cardiomyopathy, hypertrophic, 22 (615248 )
Hypertrophic cardiomyopathy v1.53 MYLK2 Rebecca Whittington commented on gene: MYLK2: Cardiomyopathy, hypertrophic, 1, digenic (192600)
Hypertrophic cardiomyopathy v1.53 JPH2 Rebecca Whittington commented on gene: JPH2: Cardiomyopathy, hypertrophic, 17 (605267 )
Hypertrophic cardiomyopathy v1.53 DES Rebecca Whittington commented on gene: DES: Myopathy, myofibrillar, 1 (601419 )
Hypertrophic cardiomyopathy v1.53 ACTA1 Rebecca Whittington commented on gene: ACTA1: ?Myopathy, scapulohumeroperoneal (616852); Myopathy, actin, congenital, with cores (161800); Myopathy, congenital, with fiber-type disproportion 1 (255310); Nemaline myopathy 3, autosomal dominant or recessive (161800)
Hypertrophic cardiomyopathy v1.53 MYH6 Rebecca Whittington commented on gene: MYH6: Cardiomyopathy, hypertrophic, 14 (613251 )
Dilated Cardiomyopathy and conduction defects v1.55 XK Rebecca Whittington commented on gene: XK: McLeod syndrome with or without chronic granulomatous disease OMIM#300842
Dilated Cardiomyopathy and conduction defects v1.55 TXNRD2 Rebecca Whittington commented on gene: TXNRD2: ?Glucocorticoid deficiency 5 OMIM#617825
Dilated Cardiomyopathy and conduction defects v1.55 TTR Rebecca Whittington commented on gene: TTR: Amyloidosis, hereditary, transthyretin-related OMIM#105210; Carpal tunnel syndrome, familial OMIM#115430;[Dystransthyretinemic hyperthyroxinemia] OMIM#145680
Dilated Cardiomyopathy and conduction defects v1.55 TMPO Rebecca Whittington commented on gene: TMPO: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 TMEM43 Rebecca Whittington commented on gene: TMEM43: Arrhythmogenic right ventricular dysplasia 5 OMIM#604400;Emery-Dreifuss muscular dystrophy 7, AD OMIM#614302
Dilated Cardiomyopathy and conduction defects v1.55 SYNE2 Rebecca Whittington commented on gene: SYNE2: Emery-Dreifuss muscular dystrophy 5, autosomal dominant OMIM#612999
Dilated Cardiomyopathy and conduction defects v1.55 SYNE1 Rebecca Whittington commented on gene: SYNE1: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM#612998; Spinocerebellar ataxia, autosomal recessive 8 OMIM#610743
Dilated Cardiomyopathy and conduction defects v1.55 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 OMIM#600996; Ventricular tachycardia, catecholaminergic polymorphic, 1 OMIM#604772.
Dilated Cardiomyopathy and conduction defects v1.55 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: Cardiomyopathy, hypertrophic 6 OMIM#600858; Glycogen storage disease of heart, lethal congenital OMIM#261740; Wolff-Parkinson-White syndrome OMIM#194200
Dilated Cardiomyopathy and conduction defects v1.55 PRDM16 Rebecca Whittington commented on gene: PRDM16: Cardiomyopathy, dilated, 1LL OMIM#615373; Left ventricular noncompaction 8 OMIM#615373
Dilated Cardiomyopathy and conduction defects v1.55 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 OMIM#609040
Dilated Cardiomyopathy and conduction defects v1.55 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 NEBL Rebecca Whittington commented on gene: NEBL: No phenotype on OMIM. DCM, HCM and LVNC in literature
Dilated Cardiomyopathy and conduction defects v1.55 MYL3 Rebecca Whittington commented on gene: MYL3: Cardiomyopathy, hypertrophic, 8 OMIM#608751
Dilated Cardiomyopathy and conduction defects v1.55 MYL2 Rebecca Whittington commented on gene: MYL2: Cardiomyopathy, hypertrophic, 10 OMIM#608758
Dilated Cardiomyopathy and conduction defects v1.55 LAMP2 Rebecca Whittington commented on gene: LAMP2: Danon disease OMIM#300257
Dilated Cardiomyopathy and conduction defects v1.55 LAMA4 Rebecca Whittington commented on gene: LAMA4: Cardiomyopathy, dilated, 1JJ OMIM#615235
Dilated Cardiomyopathy and conduction defects v1.55 JUP Rebecca Whittington commented on gene: JUP: Arrhythmogenic right ventricular dysplasia 12 OMIM#611528; Naxos disease OMIM#601214
Dilated Cardiomyopathy and conduction defects v1.55 ILK Rebecca Whittington commented on gene: ILK: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 GLA Rebecca Whittington commented on gene: GLA: Fabry disease OMIM# 301500; Fabry disease, cardiac variant OMIM#301500
Dilated Cardiomyopathy and conduction defects v1.55 FLNC Rebecca Whittington commented on gene: FLNC: Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5 OMIM#617047; Myopathy, distal, 4 OMIM#614065; Myopathy, myofibrillar, 5 OMIM#609524
Dilated Cardiomyopathy and conduction defects v1.55 FHL2 Rebecca Whittington commented on gene: FHL2: Phenotype not listed on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 FHL1 Rebecca Whittington commented on gene: FHL1: ?Uruguay faciocardiomusculoskeletal syndrome OMIM#300280; Emery-Dreifuss muscular dystrophy 6, X-linked OMIM# 300696; Myopathy, X-linked, with postural muscle atrophy OMIM#300696; Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset OMIM#300717; Reducing body myopathy, X-linked 1b, with late childhood or adult onset OMIM#300718; Scapuloperoneal myopathy, X-linked dominant OMIM#300695.
Dilated Cardiomyopathy and conduction defects v1.55 EMD Rebecca Whittington commented on gene: EMD: Emery-Dreifuss muscular dystrophy 1, OMIM#310300
Dilated Cardiomyopathy and conduction defects v1.55 DSG2 Rebecca Whittington commented on gene: DSG2: Arrhythmogenic right ventricular dysplasia 10, OMIM#610193; Cardiomyopathy, dilated, 1BB OMIM#612877
Dilated Cardiomyopathy and conduction defects v1.55 DSC2 Rebecca Whittington commented on gene: DSC2: Arrhythmogenic right ventricular dysplasia 11 OMIM#610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair OMIM#610476
Dilated Cardiomyopathy and conduction defects v1.55 DOLK Rebecca Whittington commented on gene: DOLK: Congenital disorder of glycosylation, type Im OMIM#610768
Dilated Cardiomyopathy and conduction defects v1.55 DNAJC19 Rebecca Whittington commented on gene: DNAJC19: 3-methylglutaconic aciduria, type V OMIM#610198
Dilated Cardiomyopathy and conduction defects v1.55 DMPK Rebecca Whittington commented on gene: DMPK: Myotonic dystrophy 1 OMIM#160900
Dilated Cardiomyopathy and conduction defects v1.55 CTF1 Rebecca Whittington commented on gene: CTF1: Phenotype not listed on OMIM. DCM
Dilated Cardiomyopathy and conduction defects v1.55 MYPN Rebecca Whittington commented on gene: MYPN: Cardiomyopathy, dilated, 1KK OMIM#615248; Cardiomyopathy, familial restrictive, 4 OMIM#615248; Cardiomyopathy, hypertrophic, 22 OMIM#615248; Nemaline myopathy 11, autosomal recessive OMIM#617336
Dilated Cardiomyopathy and conduction defects v1.55 CRYAB Rebecca Whittington commented on gene: CRYAB: OMIM#615184 Cardiomyopathy, dilated, 1II; OMIM# 613763 Cataract 16, multiple types; OMIM#608810 Myopathy, myofibrillar, 2; OMIM#613869 Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related
Dilated Cardiomyopathy and conduction defects v1.55 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: Phenotype not listed on OMIM. DCM
Dilated Cardiomyopathy and conduction defects v1.55 VCL Rebecca Whittington commented on gene: VCL: Cardiomyopathy, dilated, 1W OMIM#611407; Cardiomyopathy, hypertrophic, 15 OMIM#613255
Dilated Cardiomyopathy and conduction defects v1.55 TTN Rebecca Whittington commented on gene: TTN: Cardiomyopathy, dilated, 1G OMIM#604145; Cardiomyopathy, familial hypertrophic, 9 OMIM#613765; Muscular dystrophy, limb-girdle, autosomal recessive 10 OMIM#608807; Myopathy, proximal, with early respiratory muscle involvement#603689; Salih myopathy OMIM#611705; Tibial muscular dystrophy, tardive OMIM#600334
Dilated Cardiomyopathy and conduction defects v1.55 TPM1 Rebecca Whittington commented on gene: TPM1: Cardiomyopathy, dilated, 1Y OMIM#611878; Cardiomyopathy, hypertrophic, 3 OMIM#115196; Left ventricular noncompaction 9 OMIM#611878
Dilated Cardiomyopathy and conduction defects v1.55 TNNT2 Rebecca Whittington commented on gene: TNNT2: Cardiomyopathy, dilated, 1D OMIM#601494; Cardiomyopathy, familial restrictive, 3 OMIM#612422; Cardiomyopathy, hypertrophic, 2 OMIM#115195; Left ventricular noncompaction 6 OMIM#601494
Dilated Cardiomyopathy and conduction defects v1.55 TNNI3 Rebecca Whittington commented on gene: TNNI3: ?Cardiomyopathy, dilated, 2A OMIM#611880; Cardiomyopathy, dilated, 1FF OMIM#613286; Cardiomyopathy, familial restrictive, 1 OMIM#115210;Cardiomyopathy, hypertrophic, 7 OMIM#613690
Dilated Cardiomyopathy and conduction defects v1.55 TNNC1 Rebecca Whittington commented on gene: TNNC1: Cardiomyopathy, dilated, 1Z OMIM#611879; Cardiomyopathy, hypertrophic, 13 OMIM#613243
Dilated Cardiomyopathy and conduction defects v1.55 TCAP Rebecca Whittington commented on gene: TCAP: Cardiomyopathy, hypertrophic, 25 OMIM#607487; Muscular dystrophy, limb-girdle, autosomal recessive 7 OMIM#601954
Dilated Cardiomyopathy and conduction defects v1.55 TAZ Rebecca Whittington commented on gene: TAZ: Barth syndrome OMIM#302060
Dilated Cardiomyopathy and conduction defects v1.55 SGCD Rebecca Whittington commented on gene: SGCD: Cardiomyopathy, dilated, 1L OMIM#606685; Muscular dystrophy, limb-girdle, autosomal recessive 6 OMIM#601287
Dilated Cardiomyopathy and conduction defects v1.55 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 OMIM#614022; Brugada syndrome 1 OMIM#601144; Cardiomyopathy, dilated, 1E OMIM#601154; Heart block, nonprogressive OMIM#113900; Heart block, progressive, type IA OMIM#113900; Long QT syndrome-3 OMIM#603830; Sick sinus syndrome 1 OMIM#608567; Ventricular fibrillation, familial, 1 OMIM#603829 {Sudden infant death syndrome, susceptibility to} OMIM#272120
Dilated Cardiomyopathy and conduction defects v1.55 RBM20 Rebecca Whittington commented on gene: RBM20: Cardiomyopathy, dilated, 1DD OMIM#613172
Dilated Cardiomyopathy and conduction defects v1.55 RAF1 Rebecca Whittington commented on gene: RAF1: Cardiomyopathy, dilated, 1NN OMIM#615916; LEOPARD syndrome 2 OMIM#611554; Noonan syndrome 5 OMIM#611553
Dilated Cardiomyopathy and conduction defects v1.55 PLN Rebecca Whittington commented on gene: PLN: Cardiomyopathy, dilated, 1P OMIM#609909; Cardiomyopathy, hypertrophic, 18 OMIM#613874
Dilated Cardiomyopathy and conduction defects v1.55 NEXN Rebecca Whittington commented on gene: NEXN: Cardiomyopathy, dilated, 1CC OMIM#613122; Cardiomyopathy, hypertrophic, 20 OMIM#613876
Dilated Cardiomyopathy and conduction defects v1.55 MYH7 Rebecca Whittington commented on gene: MYH7: Cardiomyopathy, dilated, 1S OMIM#613426; Cardiomyopathy, hypertrophic, 1 OMIM#192600; Laing distal myopathy OMIM#160500; Left ventricular noncompaction 5 OMIM#613426; Myopathy, myosin storage, autosomal dominant OMIM#608358; Myopathy, myosin storage, autosomal recessive OMIM#255160; Scapuloperoneal syndrome, myopathic type OMIM#181430.
Dilated Cardiomyopathy and conduction defects v1.55 MYH6 Rebecca Whittington commented on gene: MYH6: Atrial septal defect 3 OMIM#614089; Cardiomyopathy, dilated, 1EE OMIM#613252; Cardiomyopathy, hypertrophic, 14 OMIM#613251; {Sick sinus syndrome 3} OMIM#614090
Dilated Cardiomyopathy and conduction defects v1.55 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Cardiomyopathy, dilated, 1MM OMIM#615396; Cardiomyopathy, hypertrophic, 4 OMIM#115197; Left ventricular noncompaction 10 OMIM#615396
Dilated Cardiomyopathy and conduction defects v1.55 LMNA Rebecca Whittington commented on gene: LMNA: Cardiomyopathy, dilated, 1A OMIM#115200; Charcot-Marie-Tooth disease, type 2B1 OMIM#605588; Emery-Dreifuss muscular dystrophy 2, autosomal dominant OMIM#181350; Emery-Dreifuss muscular dystrophy 3, autosomal recessive OMIM#6165163; Heart-hand syndrome, Slovenian type 6OMIM#10140; Hutchinson-Gilford progeria OMIM#176670; Lipodystrophy, familial partial, type 2 OMIM#151660; Malouf syndrome OMIM#212112; Mandibuloacral dysplasia OMIM#248370; Muscular dystrophy, congenital OMIM#613205; Restrictive dermopathy, lethal OMIM#275210
Dilated Cardiomyopathy and conduction defects v1.55 LDB3 Rebecca Whittington commented on gene: LDB3: Cardiomyopathy, dilated, 1C, with or without LVNC OMIM#601493; Cardiomyopathy, hypertrophic, 24 OMIM#601493; Left ventricular noncompaction 3 OMIM#601493; Myopathy, myofibrillar, 4 OMIM#609452.
Dilated Cardiomyopathy and conduction defects v1.55 HFE Rebecca Whittington commented on gene: HFE: Hemochromatosis OMIM:235200; {HFE hemochromatosis, modifier of} OMIM#235200
Dilated Cardiomyopathy and conduction defects v1.55 FKTN Rebecca Whittington commented on gene: FKTN: Cardiomyopathy, dilated, 1X OMIM#611615; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, OMIM#253800; Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, OMIM#613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, OMIM#611588.
Dilated Cardiomyopathy and conduction defects v1.55 EYA4 Rebecca Whittington commented on gene: EYA4: ?Cardiomyopathy, dilated, 1J OMIM#605362; Deafness, autosomal dominant 10 OMIM#601316
Dilated Cardiomyopathy and conduction defects v1.55 DSP Rebecca Whittington commented on gene: DSP: Arrhythmogenic right ventricular dysplasia 8 OMIM#607450; Cardiomyopathy, dilated, with woolly hair and keratoderma OMIM#605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis OMIM#615821; Epidermolysis bullosa, lethal acantholytic OMIM#609638; Keratosis palmoplantaris striata II OMIM#612908; Skin fragility-woolly hair syndrome OMIM#607655
Dilated Cardiomyopathy and conduction defects v1.55 DMD Rebecca Whittington commented on gene: DMD: Becker muscular dystrophy OMIM#300376;Cardiomyopathy, dilated, 3B OMIM#302045;Duchenne muscular dystrophy OMIM#310200
Dilated Cardiomyopathy and conduction defects v1.55 DES Rebecca Whittington commented on gene: DES: Cardiomyopathy, dilated, 1I OMIM# 604765;Myopathy, myofibrillar, 1 OMIM#601419; Scapuloperoneal syndrome, neurogenic, Kaeser type OMIM#181400
Dilated Cardiomyopathy and conduction defects v1.55 CSRP3 Rebecca Whittington commented on gene: CSRP3: OMIM#607482 ?Cardiomyopathy, dilated, 1M; OMIM#612124 Cardiomyopathy, hypertrophic, 12
Dilated Cardiomyopathy and conduction defects v1.55 BAG3 Rebecca Whittington commented on gene: BAG3: OMIM#613881: Cardiomyopathy, dilated, 1HH; OMIM#612954: Myopathy, myofibrillar, 6.
Dilated Cardiomyopathy and conduction defects v1.55 ACTN2 Rebecca Whittington commented on gene: ACTN2: OMIM#612158: Cardiomyopathy, dilated 1AA with or without LVNC and Cardiomyopathy, hypertrophic, 23, with or without LVNC
Dilated Cardiomyopathy and conduction defects v1.55 ACTC1 Rebecca Whittington commented on gene: ACTC1: OMIM#613424: Cardiomyopathy dilated 12; OMIM#612098 Cardiomyopathy, familial hypertrophy
Dilated Cardiomyopathy and conduction defects v1.55 ABCC9 Rebecca Whittington commented on gene: ABCC9: OMIM#608569: Cardiomyopathy, dilated 1O; OMIM#614050: Atrial Fibrillation 12 OMIM#239850:Cantu Syndrome
Dilated Cardiomyopathy and conduction defects v1.55 SGCB Rebecca Whittington commented on gene: SGCB: Muscular dystrophy, limb-girdle, autosomal recessive 4 OMIM#604286
Dilated Cardiomyopathy and conduction defects v1.55 SDHA Rebecca Whittington commented on gene: SDHA: Cardiomyopathy, dilated, 1GG OMIM#613642; Leigh syndrome OMIM256000; Mitochondrial respiratory chain complex II deficiency OMIM#252011;Paragangliomas 5 OMIM#614165
Dilated Cardiomyopathy and conduction defects v1.55 NPPA Rebecca Whittington commented on gene: NPPA: Atrial fibrillation, familial, 6 OMIM#612201; Atrial standstill 2 OMIM#615745
Dilated Cardiomyopathy and conduction defects v1.55 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: Atrial septal defect 7, with or without AV conduction defects OMIM#108900; Conotruncal heart malformations, variable OMIM#217095; Hypoplastic left heart syndrome 2 OMIM#614435; Hypothyroidism, congenital nongoitrous, 5 OMIM#225250; Tetralogy of Fallot OMIM#187500; Ventricular septal defect 3 OMMIM 614432
Dilated Cardiomyopathy and conduction defects v1.55 MPO Rebecca Whittington commented on gene: MPO: Myeloperoxidase deficiency OMIM#254600 AR; {Alzheimer disease, susceptibility to} OMIM#104300;{Lung cancer, protection against, in smokers}
Dilated Cardiomyopathy and conduction defects v1.55 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: Phenotype not listed on OMIM.
Dilated Cardiomyopathy and conduction defects v1.55 ACTA1 Rebecca Whittington commented on gene: ACTA1: OMIM#612794 Atrial septal defect 5;OMIM#613424 Cardiomyopathy, dilated, 1R;OMIM#612098 Cardiomyopathy, hypertrophic, 11;OMIM#613424 Left ventricular noncompaction 4
Dilated Cardiomyopathy and conduction defects v1.55 SCN1B Rebecca Whittington commented on gene: SCN1B: Atrial fibrillation, familial, 13 OMIM#615377; Brugada syndrome 5 OMIM#612838; Cardiac conduction defect, nonspecific OMIM#612838; Epilepsy, generalized, with febrile seizures plus, type 1 OMIM#604233; Epileptic encephalopathy, early infantile, 52 OMIM#617350
Dilated Cardiomyopathy and conduction defects v1.55 PSEN2 Rebecca Whittington commented on gene: PSEN2: Alzheimer disease-4 OMIM#606889; Cardiomyopathy, dilated, 1V OMI#613697
Dilated Cardiomyopathy and conduction defects v1.55 PSEN1 Rebecca Whittington commented on gene: PSEN1: ?Acne inversa, familial, 3 OMIM#613737; Alzheimer disease, type 3 OMIM#607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia OMIM#607822; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques OMIM# 607822; Cardiomyopathy, dilated, 1U OMIM#613694; Dementia, frontotemporal OMIM#600274; Pick disease OMIM#172700
Dilated Cardiomyopathy and conduction defects v1.55 GATAD1 Rebecca Whittington commented on gene: GATAD1: ?Cardiomyopathy, dilated, 2B OMIM#614672
Dilated Cardiomyopathy and conduction defects v1.55 TFR2 Rebecca Whittington commented on gene: TFR2: Hemochromatosis, type 3 OMIM#604250
Dilated Cardiomyopathy and conduction defects v1.55 SLC40A1 Rebecca Whittington commented on gene: SLC40A1: Hemochromatosis, type 4 OMIM#606069
Dilated Cardiomyopathy and conduction defects v1.55 RAB3GAP2 Rebecca Whittington commented on gene: RAB3GAP2: Martsolf syndrome OMIM#212720; Warburg micro syndrome 2 OMIM#614225
Dilated Cardiomyopathy and conduction defects v1.55 PPP1R13L Rebecca Whittington commented on gene: PPP1R13L: No phenotype on OMIM
Dilated Cardiomyopathy and conduction defects v1.55 IDH2 Rebecca Whittington commented on gene: IDH2: D-2-hydroxyglutaric aciduria 2 OMIM:613657
Dilated Cardiomyopathy and conduction defects v1.55 HFE2 Rebecca Whittington commented on gene: HFE2: Hemochromatosis, type 2A OMIM# 602390
Dilated Cardiomyopathy and conduction defects v1.55 HAMP Rebecca Whittington commented on gene: HAMP: Hemochromatosis, type 2B OMIM:613313
Dilated Cardiomyopathy and conduction defects v1.55 EPG5 Rebecca Whittington commented on gene: EPG5: Vici syndrome OMIM#242840
Catecholaminergic polymorphic VT v1.13 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Andersen syndrome (OMIM 170390), Atrial fibrillation, familial, 9 (OMIM 613980), Short QT syndrome 3 (OMIM 609622)
Catecholaminergic polymorphic VT v1.13 KCNE1 Rebecca Whittington commented on gene: KCNE1: Jervell and Lange-Nielsen syndrome 2 (OMIM 612347 - AR), Long QT syndrome 5 (OMIM 613695 - AD)
Catecholaminergic polymorphic VT v1.13 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)
Catecholaminergic polymorphic VT v1.13 TRDN Rebecca Whittington commented on gene: TRDN: Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (OMIM 615441)
Catecholaminergic polymorphic VT v1.13 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (OMIM 600996), Ventricular tachycardia, catecholaminergic polymorphic, 1 (OMIM 604772)
Catecholaminergic polymorphic VT v1.13 CASQ2 Rebecca Whittington commented on gene: CASQ2: Ventricular tachycardia, catecholaminergic polymorphic, 2 (OMIM 611938)
Catecholaminergic polymorphic VT v1.13 CALM1 Rebecca Whittington commented on gene: CALM1: Long QT syndrome 14 (OMIM 616247).Ventricular tachycardia, catecholaminergic polymorphic, 4 (OMIM 614916).
Catecholaminergic polymorphic VT v1.13 TECRL Rebecca Whittington commented on gene: TECRL: Ventricular tachycardia, catecholaminergic polymorphic, 3 (OMIM 614021)
Catecholaminergic polymorphic VT v1.13 CALM3 Rebecca Whittington commented on gene: CALM3: No links to phenotypes on OMIM
Catecholaminergic polymorphic VT v1.13 CALM2 Rebecca Whittington commented on gene: CALM2: Long QT syndrome 15 (OMIM 616249). Overlapping phenotype with CPVT
Brugada syndrome and cardiac sodium channel disease v1.38 SCN2B Rebecca Whittington commented on gene: SCN2B: Atrial fibrillation, familial, 14 (OMIM 615378)
Brugada syndrome and cardiac sodium channel disease v1.38 RANGRF Rebecca Whittington commented on gene: RANGRF: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 (OMIM 609040)
Brugada syndrome and cardiac sodium channel disease v1.38 KCNJ8 Rebecca Whittington commented on gene: KCNJ8: Only possible links with Brugada (OMIM 601144)) and Cantu (OMIM 23985) -VUS only
Brugada syndrome and cardiac sodium channel disease v1.38 KCNH2 Rebecca Whittington commented on gene: KCNH2: Long QT syndrome 2 (OMIM 613688), Short QT syndrome 1 (OMIM 609620), {Long QT syndrome 2, acquired, susceptibility to} (OMIM 613688)
Brugada syndrome and cardiac sodium channel disease v1.38 KCND3 Rebecca Whittington commented on gene: KCND3: Brugada syndrome 9 (OMIM 616399), Spinocerebellar ataxia 19 (OMIM 607346).
Brugada syndrome and cardiac sodium channel disease v1.38 CAV3 Rebecca Whittington commented on gene: CAV3: Cardiomyopathy, familial hypertrophic (OMIM 192600), Creatine phosphokinase, elevated serum (OMIM 123320), Long QT syndrome 9 (OMIM 611818), Myopathy, distal, Tateyama type (OMIM 614321), Rippling muscle disease (OMIM 606072).
Brugada syndrome and cardiac sodium channel disease v1.38 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Brugada syndrome 3 (OMIM 611875), Timothy syndrome (OMIM 601005)
Brugada syndrome and cardiac sodium channel disease v1.38 ANK2 Rebecca Whittington commented on gene: ANK2: Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)
Brugada syndrome and cardiac sodium channel disease v1.38 ABCC9 Rebecca Whittington commented on gene: ABCC9: Atrial fibrillation, familial, 12 (OMIM 614050), Cardiomyopathy, dilated, 1O (OMIM 608569), Hypertrichotic osteochondrodysplasia (Cantu -OMIM 239850)
Brugada syndrome and cardiac sodium channel disease v1.38 TRPM4 Rebecca Whittington commented on gene: TRPM4: Progressive familial heart block, type IB (OMIM 604559)
Brugada syndrome and cardiac sodium channel disease v1.38 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 (OMIM 614022), Brugada syndrome 1 (OMIM 601144), Cardiomyopathy, dilated, 1E (OMIM 601154), Heart block, nonprogressive (OMIM 113900), Heart block, progressive, type IA (OMIM 113900), Long QT syndrome-3 (OMIM 603830), Sick sinus syndrome 1 (OMIM 608567), Ventricular fibrillation, familial, 1 (OMIM 603829-AR), {Sudden infant death syndrome, susceptibility to} (OMIM 272120-AR).
Brugada syndrome and cardiac sodium channel disease v1.38 SCN3B Rebecca Whittington commented on gene: SCN3B: Atrial fibrillation, familial, 16 (OMIM 613120), Brugada syndrome 7 (OMIM 613120)
Brugada syndrome and cardiac sodium channel disease v1.38 SCN1B Rebecca Whittington commented on gene: SCN1B: Atrial fibrillation, familial, 13 (OMIM 615377), Brugada syndrome 5 (OMIM 612838), Cardiac conduction defect, nonspecific (OMIM 612838), Epilepsy, generalized, with febrile seizures plus, type 1 (OMIM 604233), Epileptic encephalopathy, early infantile, 52 (OMIM 617350 - AR).
Brugada syndrome and cardiac sodium channel disease v1.38 SCN10A Rebecca Whittington commented on gene: SCN10A: Episodic pain syndrome, familial, 2 (OMIM 615551), PR Interval, variation in (OMIM %108980)
Brugada syndrome and cardiac sodium channel disease v1.38 KCNE3 Rebecca Whittington commented on gene: KCNE3: ?Brugada syndrome 6 (OMIM 613119)
Brugada syndrome and cardiac sodium channel disease v1.38 HCN4 Rebecca Whittington commented on gene: HCN4: Brugada syndrome 8 (OMIM 613123), Sick sinus syndrome 2 (OMIM 163800)
Brugada syndrome and cardiac sodium channel disease v1.38 GPD1L Rebecca Whittington commented on gene: GPD1L: Brugada syndrome 2 (OMIM 611777)
Brugada syndrome and cardiac sodium channel disease v1.38 CACNB2 Rebecca Whittington commented on gene: CACNB2: Brugada syndrome 4 (OMIM 611876)
Brugada syndrome and cardiac sodium channel disease v1.38 SLMAP Rebecca Whittington commented on gene: SLMAP: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 KCNE5 Rebecca Whittington commented on gene: KCNE5: No links to phenotypes on OMIM
Brugada syndrome and cardiac sodium channel disease v1.38 DLG1 Rebecca Whittington commented on gene: DLG1: No links to phenotypes on OMIM
Arrhythmogenic right ventricular cardiomyopathy v1.23 TTN Rebecca Whittington commented on gene: TTN: Cardiomyopathy, dilated, 1G (604145); Cardiomyopathy, familial hypertrophic, 9 (613765) and others
Arrhythmogenic right ventricular cardiomyopathy v1.23 TGFB3 Rebecca Whittington commented on gene: TGFB3: Arrhythmogenic right ventricular dysplasia 1 (107970); Loeys-Dietz syndrome 5 (615582)
Arrhythmogenic right ventricular cardiomyopathy v1.23 SCN5A Rebecca Whittington commented on gene: SCN5A: Atrial fibrillation, familial, 10 (614022); Brugada syndrome 1 (601144); Cardiomyopathy, dilated, 1E (601154) ; Heart block, nonprogressive (113900); Long QT3 (603830)
Arrhythmogenic right ventricular cardiomyopathy v1.23 LMNA Rebecca Whittington commented on gene: LMNA: Cardiomyopathy, dilated, 1A (115200) and others
Arrhythmogenic right ventricular cardiomyopathy v1.23 LDB3 Rebecca Whittington commented on gene: LDB3: Cardiomyopathy, dilated, 1C, with or without LVNC; Cardiomyopathy, hypertrophic, 24; Cardiomyopathy, dilated, 1C, with or without LVNC (601493); Myopathy, myofibrillar, 4 (609452)
Arrhythmogenic right ventricular cardiomyopathy v1.23 CTNNA3 Rebecca Whittington commented on gene: CTNNA3: Arrhythmogenic right ventricular dysplasia, familial, 13 (615616)
Arrhythmogenic right ventricular cardiomyopathy v1.23 TMEM43 Rebecca Whittington commented on gene: TMEM43: Arrhythmogenic right ventricular dysplasia 5 (604400); Emery-Dreifuss muscular dystrophy 7, AD (614302)
Arrhythmogenic right ventricular cardiomyopathy v1.23 RYR2 Rebecca Whittington commented on gene: RYR2: Arrhythmogenic right ventricular dysplasia 2 (600996); Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
Arrhythmogenic right ventricular cardiomyopathy v1.23 PLN Rebecca Whittington commented on gene: PLN: Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874)
Arrhythmogenic right ventricular cardiomyopathy v1.23 PKP2 Rebecca Whittington commented on gene: PKP2: Arrhythmogenic right ventricular dysplasia 9 (609040)
Arrhythmogenic right ventricular cardiomyopathy v1.23 JUP Rebecca Whittington commented on gene: JUP: Arrhythmogenic right ventricular dysplasia 12 (611528); Naxos disease (601214)
Arrhythmogenic right ventricular cardiomyopathy v1.23 DSP Rebecca Whittington commented on gene: DSP: Arrhythmogenic right ventricular dysplasia 8 (607450) Cardiomyopathy, dilated, with woolly hair and keratoderma (605676); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)
Arrhythmogenic right ventricular cardiomyopathy v1.23 DSG2 Rebecca Whittington commented on gene: DSG2: Arrhythmogenic right ventricular dysplasia 10 (610193); Cardiomyopathy, dilated, 1BB (612877)
Arrhythmogenic right ventricular cardiomyopathy v1.23 DSC2 Rebecca Whittington commented on gene: DSC2: Arrhythmogenic right ventricular dysplasia 11 (610476)
Arrhythmogenic right ventricular cardiomyopathy v1.23 DES Rebecca Whittington commented on gene: DES: Cardiomyopathy, dilated, 1I (604765); Myopathy, myofibrillar, 1 (601419); Scapuloperoneal syndrome, neurogenic, Kaeser type (181400)
Arrhythmogenic right ventricular cardiomyopathy v1.23 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: No OMIM association; HGMD DMD/ARVC
Thoracic aortic aneurysm or dissection v1.89 FOXE3 Rebecca Whittington commented on gene: FOXE3: Kuang et al (J Clin Invest. 2016;126:948 PMID:26854927) describe several variants found in patients with TAAD. All variants associated with TAAD were located in the Forkhead domain. Segregation evidence for two of these variants but incomplete penetrance in that heterozygous male carriers are affected in this study but two heterozygous female carriers are unaffected. 8 family members affected with TAAD - all are male. Suggest FOXE3 mutations lead to reduced numbers of aortic smooth muscle cells and increased smooth muscle cell apoptosis in response to biomechanical stress.
Thoracic aortic aneurysm or dissection v1.89 CBS Rebecca Whittington commented on gene: CBS: Narayanan et al (Int J Physiol Pathophysiol Pharmacol 2013:32 PMID:23525608) - Homocystinuria may present with aortic aneurysm. Decreased expression of Collagens I and IV was observed in CBS+/- mice, analagous to changes seen in TAAD. Gaustadnes et al (HUMAN MUTATION 20:117 2002 PMID:12124992) describes 36 patients with homocystinuria and two variants in CBS. Dislocated lenses and Marfaniod features were reported in many of these patients, with aortic root dilation in one.
Thoracic aortic aneurysm or dissection v1.89 SMAD4 Rebecca Whittington commented on gene: SMAD4: Wain et al 2014 Genet Med 16:588 reviews clinical features of patients with SMAD4 variants and identifies enlarged aortic root in 9% (3 patients) and aortic dissection in one patient. References other publications that refer to a Marfan-like presentation.
Thoracic aortic aneurysm or dissection v1.89 SMAD2 Rebecca Whittington commented on gene: SMAD2: Schepers et al 2018 Hum Mutat 39:621 PMID:29392890 review variants in TGFB2/3 and SMAD2/3 in LDS, listing 6 likely pathogenic variants from this and previous studies. All missense variants to date
Thoracic aortic aneurysm or dissection v1.89 SLC2A10 Rebecca Whittington commented on gene: SLC2A10: Callewaert et al 2008 Hum Mutat 29:150 PMID:17935213 describe bialleleic SLC2A10 variants in 16 affected individuals from 12 families; missense, truncating and large deletion; 5 mutations are recurrent. Heterozygous carriers have normal vasculature (abstract only); Wooderchak-Donahue et al 2015 Am J Med Genet A 167A:1747 PMID:25944730 also identify heterozygous SLC2A10 variants in Marfan cohort patients with arterial aneurysm/dissection but both variants are VUS.
Thoracic aortic aneurysm or dissection v1.89 SKI Rebecca Whittington commented on gene: SKI: Doyle et al 2012 Nat Genet 44:1249 PMID:23023332 characterise several missense variants which are mostly de-novo and cluster in the SMAD2/3 binding domain and Dachshund-homology domain essential for co-repressor recrutiment. Functional analysis showed loss of repression of TGF-B signalling cascades in patient fibroblasts heterozygous for variants.
Thoracic aortic aneurysm or dissection v1.89 PRKG1 Rebecca Whittington commented on gene: PRKG1: Two disease-causing variants reported to HGMD, both published by Overwater et al 2018 Hum Mutat 39:1143 PMID:29907982 one missense variant and one in-frame deletion of exon 3. No segregation for either variant, but the missense variant c.530G>A p.(Arg177Gln) has been reported elsewhere (Guo et al 2013 Am J Hum Genet 93:398 PMID:23910461) with segregation in 18 affected members of 4 families. Other variants are reported as ?DM on HGMD.
Thoracic aortic aneurysm or dissection v1.89 PLOD1 Rebecca Whittington commented on gene: PLOD1: Abdalla et al 2015 Eur J Pediatr 174:105 PMID:25277362 characterised nonsense and a relatively commonly reported large in-frame duplication p.Glu326_Lys585dup (entire exons 10-16 of 19 exon gene) in Egyptian patients with Kyphoscoliotic EDS and found segregation with disease in 6 affected individuals from 4 families (abstract only)
Thoracic aortic aneurysm or dissection v1.89 NOTCH1 Rebecca Whittington commented on gene: NOTCH1: Meester et al 2018 Hum Mutat 39:1246 PMID:29924900 Characterisation of variants in Adams-Oliver syndrome missense, nonsense splice and frameshift variants either novel to this publication or also published elsewhere. Multiple variants classified pathogenic/likely pathogenic using ACMG criteria and gnomAD population data using criteria which appear to be stringent. Southgate et al 2015 Circ Cardiovasc Genet 8:572 PMID:25963545 show segregation of NOTCH1 variants in 4 families and de-novo in 3 families and reduction of mRNA levels implying NMD. Both publications list cardiac phenotypes including BAV, co-arctation of the aorta, aortic regurgitation, aortic stenosis and VSD.
Thoracic aortic aneurysm or dissection v1.89 LOX Rebecca Whittington commented on gene: LOX: Guo et al 2016 Circ Res 118:928 PMID:26838787 LOX c.839G>T (p.Ser280Arg) segregates with FTAAD in a large family and other variants also show segregation in other families c.125G>A (p.Trp42*), c.604G>T (p.Gly202*), c.743C>T (p.Thr248Ile), c.800A>C (p.Gln267Pro), and c.1044T>A (p.Ser348Arg). Some (but not all) patients had additional Marfaniod features.
Thoracic aortic aneurysm or dissection v1.89 FLNA Rebecca Whittington commented on gene: FLNA: Chen et al 2018 Am J Med Genet A 176:337 PMID:29334594 examine patients with FLNA for cardiac features and found that 18% had thoracic aortic aneurysm/dilation and 57% had other cardiac abnormalites. This included two patients who died of aortic rupture at aortic diameters smaller than that reccomended for surgery in other aortopathies.
Thoracic aortic aneurysm or dissection v1.89 FBN2 Rebecca Whittington commented on gene: FBN2: Wooderchak-Donahue et al 2015 Am J Med Genet A 167A:1747 PMID:25944730 5 missense variants identified in Marfan/Marfan-like cohort: 3302A>G Asn1101Ser, 3793G>A Glu1265Lys, 4454A>G Asp1485Gly, 4657C>T Arg1553Cys, 5627G>C Cys1876Ser - all reported as VUS. Callewaert et al 2009 Hum Mutat 30:334 PMID:19006240 review FBN2 variants in contractural arachnodactyly and comment on involvement of aortopathy in phenotype of more recently described cases.
Thoracic aortic aneurysm or dissection v1.89 EFEMP2 Rebecca Whittington commented on gene: EFEMP2: Letard et al 2018 Mol Syndromol 9:190 PMID:30140196 report a severe cutis laxa phenotype in a terminated pregnancy homozygous for an EFEMP2 nonsense variant c.639C>A (p.Cys213*) and review/list previously reported EFEMP2 variants. 0.00041% gnomAD (AR association).
Thoracic aortic aneurysm or dissection v1.89 ACTA2 Rebecca Whittington commented on gene: ACTA2: Recent review: Milewicz et al 2017 Arterioscl Thromb Vasc Biol 37:26 PMID:27879251
Thoracic aortic aneurysm or dissection v1.89 ZNF469 Rebecca Whittington commented on gene: ZNF469: Rohrbach et al 2013 Mol Genet Metab 109:289 PMID:23680354 describe two homozygous and one heterozygous patient - all variants are truncating. One patient has mitral valve prolapse and mild mitral regurgitation with a normal aortic root diameter. Variants also identified in 15 affected members of 10 families from a previously described cohort (Al-Hussain et al 2004 Am J Med Genet A 124A:28 PMID:14679583 - no mention of any cardiac phenotype).
Thoracic aortic aneurysm or dissection v1.89 TNXB Rebecca Whittington commented on gene: TNXB: Demirdos et al 2017 Clin Genet 91:411 PMID:27582382 17 patients of 11 families with autosomal recessive inheritance and childhood onset. 12 different mutations were detected, most of which are suspected to lead to NMD. Abstract only (no mention of cardiac phenotype in abstract). Several publications reviewed but no mention of cardiac phenotype.
Thoracic aortic aneurysm or dissection v1.89 MFAP5 Rebecca Whittington commented on gene: MFAP5: Barbier et al 2014 Am J Hum Genet 95:736 PMID:25434006 describe one missense variant c.62G>T (p.Trp21Leu) (MAF 0.0036% 10 alleles - quite high) and one nonsense variant (in final exon) c.472C>T (p.Arg158*) (MAF 0.0045% 11 alleles) in patients with syndromic/non-syndromic thoracic aortic aneurysm and dissections and no previous genetic diagnoisis. The nonsense variant segregates in 4 affected family members (also present in one unaffected 83 year-old and two family members with ambiguous phenotypes - incomplete penetrance?) and the missense variant in two affected family members (plus one younger family member with ambigous phenotype). Functional studies on aortic tissue (following surgery) from the missense variant showed disorganisation of the tunica media with loss of smooth muscle cells and showed enhanced TGF-b signaling in patient compared to healthy aorta. Schubert et al 2016 Am J Med Genet A 170A:1288 PMID:26854089 indentified an additional MFAP5 variant in a TAA cohort - patient also as an MYLK variant. Both missense and classified as VUS. MFAP5 variant is c.341G>A p.Arg114Gln (MAF ASJ 0.34% (56 alleles)) and has stronger supporting BI than the MYLK variant.
Thoracic aortic aneurysm or dissection v1.89 LTBP2 Rebecca Whittington commented on gene: LTBP2: Haji-Seyed-Javadi et al 2012 Hum Mutat 33:1182 PMID:22539340 identified homozygous c.3529G>A (p.Val1177Met) in a patient with Weill-Marchesani syndrome and c.1642C >T (p.Arg548*) in a patient with Marfan syndrome. They comment that p.Arg548* may be contributing to MFS-related phenotypes but is not responsible for the MFS in that patient (abstract only). Two other variants associated with MFS on HGMD but these are in unavailable conference abstract. Don't think sufficient evidence for this gene.
Thoracic aortic aneurysm or dissection v1.89 KCNN1 Rebecca Whittington commented on gene: KCNN1: Kim et al 2013 J Hum Genet 58:521 PMID:23677057 KCNN2 identified as a susceptiblity locus for coronary artery aneurysms in GWAS study
Thoracic aortic aneurysm or dissection v1.89 HNRNPK Rebecca Whittington commented on gene: HNRNPK: Au et al 2018 Eur J Hum Genet 26:1272 PMID:29904177 summarise a total of 9 patients with de novo LoF variants in NHRNPK, one with a de novo missense variant and 3 with de novo large deletions including HNRNPK in Au-Kline syndrome (abstract only)
Thoracic aortic aneurysm or dissection v1.89 FKBP14 Rebecca Whittington commented on gene: FKBP14: 6 variants described on ClinVar missense and truncating: Giunta et al 2018 Genet Med 20:42 PMID:28617417 describe 17 affected patients from 15 families all are homozygous for a total of 4 different pathogenic variants. A summary of this and a previous publication show that 6/20 patients have vascular abnormalities. This publication includes one patient with coronary artery dissection, one with a dilated aorta and one with borderline aortic root diameter. Baumann et al 2012 Am J Hum Genet 90:201 PMID:22265013 describe 6 patients from 5 families who are homozygous or compound heterozygous for FKBP14 variants and have some supporting functional work in FKBP14 deficient fibroblasts. One patient has aortic rupture.
Thoracic aortic aneurysm or dissection v1.89 FBLN5 Rebecca Whittington commented on gene: FBLN5: Callewaert et al 2013 Hum Mutat 34:111 PMID:22829427 describe one missense and one nonsense variant c.649T>C p.Cys217Arg; c.1171G>T p.Glu391X (both homozygous in consanguineous families) but do not report segregation or functional analysis for either variant, but both had significant family history; p.Cys217Arg has previously been reported elsewhere. Hu et al 2006 Hum Mol Genet 15:3379 PMID:17035250 carried out functional analysis on two missense variants including Cys217Arg and have shown fibulin-5 is absent in skin from a homozygous p.ser227Pro patient with resulting disorganisation of elastic fibres. Loeys et al 2002 11:2113 PMID:12189163 characterised the Ser224Pro variant in 4 homozygous affected members of a large consangineous family - segregation data.
Thoracic aortic aneurysm or dissection v1.89 COL2A1 Rebecca Whittington commented on gene: COL2A1: Hoornaert et al 2010 Eur J Hum Genet 18:872 PMID:20179744 review genotype/phenotype correlations in 100 Stickler syndrome patients with mutations in COL2A1 and make no mention of any cardiac phenotype, so this is unlikely to be a significant feature of this syndrome.
Thoracic aortic aneurysm or dissection v1.89 CHST14 Rebecca Whittington commented on gene: CHST14: Janecke et al 2016 Am J Med Genet A 170A:103 PMID:26373698 describe novel and recurrent missense and truncating variants in AR musculocontractural EDS. EDS phenotype with heart valve abnormalities in >50% of individuals and CHD occasionally present.
Thoracic aortic aneurysm or dissection v1.89 ALDH18A1 Rebecca Whittington commented on gene: ALDH18A1: Publications support role for this gene in a cutis laxa phenotype, e.g. Fischer-Zernsak et al (Am J Hum Genet 2015 97:483 PMID:26320891) which shows 3 different de novo variants affecting the same nucleotide in 8 families with a progeroid presentation of AD cutis laxa. No aortic involvement so insufficient to justify inclusion on panel unless overlapping features with relevant diseases is considered.
Thoracic aortic aneurysm or dissection v1.89 ABCC6 Rebecca Whittington commented on gene: ABCC6: Schulz et al (J Vasc Res 2005 42:424 PMID:16127278) looked for ABCC6 variants in a cohort of patients with abdominal aortic aneurysm. They identified 5 ABCC6 variants but frequency did not differ between cases and controls leading to the conclusion that none of these variants are not associated with AAA.
Thoracic aortic aneurysm or dissection v1.89 PKD1 Rebecca Whittington commented on gene: PKD1: Silverio et al (Nephrology 2015 20:229 PMID:25476912) report on aortic disease in patients with ADPKD. Review of publications where both ADPKD and aortic disease were both present but no mention of genetic associations apart from mentioning that PKD1 and PKD2 cause ADPKD. Patients described in publication also had other marfaniod features. Qiu and Yu (J Cardiovasc Dis & Diag 2013 10.4172 PMID:not found) review the role of PKD1 and PKD2 in cardiovascular systems and describe association with mainly intracranial aneurysms - aortic aneurysm seems less frequent.
Thoracic aortic aneurysm or dissection v1.89 MED12 Rebecca Whittington commented on gene: MED12: Khan et al 2016 Clin Med Insights Case Rep 9:115 describes this as being an intellectual disability syndrome with Marfanoid features. Patient has variant c.3020A>G p.Asn1007Ser, which has been reported several times with functional studies. This patient does not have aortic involvement and review of literature suggests that intellectual disability and Marfaniod body habitus are usual features with this variant and not aortic.
Thoracic aortic aneurysm or dissection v1.89 FLCN Rebecca Whittington commented on gene: FLCN: Liu et al 2017 Orphanet J Rare dis 12:104 PMID:28558743 characterise several FLCN variants in a chinese Birt-Hogg-Dube cohort and comment on comparision with mutations found in Western cohorts, but do not mention any cardiac involvement
Thoracic aortic aneurysm or dissection v1.89 COL1A2 Rebecca Whittington commented on gene: COL1A2: Schwarze et al 2004 Am J Hum Genet 74:917 PMID:15077201 identified truncating variants - splice variants affecting +/-1 position (compound heterozygous) and nonsense (homozygous) that lead to disease through NMD.
Thoracic aortic aneurysm or dissection v1.89 COL1A1 Rebecca Whittington commented on gene: COL1A1: Weerakkody et al 2016 Genet Med 18:1119 PMID:27011056 is one of several publications identifying variants in COL1A1 in EDS patients. One frameshift and two missense (affecting glycine in the G-X-Y collagen triple-helix motif) variants are described: c.1265delG: p.Gly422AlafsX119; c.643G>A: p.Gly215Ser; c.662G>C: p.Gly221Ala. None of these have any gnomAD frequency.
Thoracic aortic aneurysm or dissection v1.89 BGN Rebecca Whittington commented on gene: BGN: Meester et al 2017 Genet Med 19:386 PMID:27632686 report one nonsense, two missense and two large deletions affecting multiple exons of BGN but no additional genes. Nonsense variant c.5G>A, p.Trp2* with no gnomAD freq, seg in two affected family members and 2 ClinVar submissions as pathogenic. Missense variants c.908A>C, p.Gln303Pro and c.238G>A,p.Gly80Ser both with no gnomAD freq and 2 ClinVar submissions as pathogenic.
Thoracic aortic aneurysm or dissection v1.89 ABL1 Rebecca Whittington commented on gene: ABL1: Wang et al 2017 Nat Genet 49:613 PMID 28288113 describe two variants: c.734A>G (p.Tyr245Cys) found de novo in 5 individuals from 3 families (segregates with disease in two affected individuals from each of 2 families) and c.1066G>A (p.Ala356Thr) found de novo in a single family. Both variants are well conserved and affect the kinase domain. Neither have any gnomAD frequency and both are reported as pathogenic by more than one source on ClinVar.
Short QT syndrome v1.9 SCN5A Rebecca Whittington commented on gene: SCN5A: Does not appear to be associated with SQT on OMIM and HGMD
Short QT syndrome v1.9 CACNB2 Rebecca Whittington commented on gene: CACNB2: 1 variant reported associated with SQT on HGMD 29016797, functional evidence questions pathogenicity 25527503
Short QT syndrome v1.9 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: 1 variant associated with SQT on HGMD. Also reported in controls 22840528. Some functional characterisation 29016797
Short QT syndrome v1.9 SLC4A3 Rebecca Whittington commented on gene: SLC4A3: 1 variant associated with SQT on HGMD
Short QT syndrome v1.9 SLC22A5 Rebecca Whittington commented on gene: SLC22A5: Not associated with SQT
Short QT syndrome v1.9 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: 2 reported variants on HGMD 15159330 , with functional studies 26168993, 28814790
Short QT syndrome v1.9 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: 1 report associated with LQT. 28609477
Short QT syndrome v1.9 KCNH2 Rebecca Whittington commented on gene: KCNH2: Multiple DM variants on HGMD with functional studies.
Short QT syndrome v1.9 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Not associated with SQT
Progressive cardiac conduction disease v0.17 ANK2 Rebecca Whittington commented on gene: ANK2: Can be associated with Bradycardia. 27785597 - 1 report on HGMD
Progressive cardiac conduction disease v0.17 GJA5 Rebecca Whittington commented on gene: GJA5: Pubmed: 25426816. Connexin. Involved in the normal propagation of the electrical impulse in the specialized cardiac conduction system. 1 family with variant and familial heart block.
Progressive cardiac conduction disease v0.17 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Progressive cardiac conduction disease v0.17 TBX3 Rebecca Whittington commented on gene: TBX3: Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Progressive cardiac conduction disease v0.17 TBX5 Rebecca Whittington commented on gene: TBX5: Pubmed: 25426816. Can show very variable penetrance and conduction defects without structural malformations
Progressive cardiac conduction disease v0.17 EMD Rebecca Whittington commented on gene: EMD: As with LMNA - reports of individuals with a EMD variant who had a conduction defect as an isolated finding at presentation.
Progressive cardiac conduction disease v0.17 DES Rebecca Whittington commented on gene: DES: As with LMNA - reports of individuals with a DES variant who had a conduction defect as an isolated finding at presentation.
Progressive cardiac conduction disease v0.17 LMNA Rebecca Whittington commented on gene: LMNA: PMID: 27884249; 23912926: reports of individuals with a LMNA variant who had a conduction defect as an isolated finding. Cardiomyopathy phenotype developed late in some (few) relatives as a later feature.
Progressive cardiac conduction disease v0.17 HCN4 Rebecca Whittington commented on gene: HCN4: Atrial fibrillation, Bradycardia & left ventricular noncompaction cardiomyopathy; Sick Sinus Syndrome on HGMD, numerous reports. Pubmed - 28104484
Progressive cardiac conduction disease v0.17 TRPM4 Rebecca Whittington commented on gene: TRPM4: In cellular expression systems, mutant TRPM4 channels produce a larger current than wt (GoF). 4 families identified. Hypothesised GoF mutant channels lead to cell membrane depolarisation in the conduction system, therefore reducing number of Na channels and resulting in conduction abnormality. Functional experiments expressing these three mutant variants of TRPM4 suggested a similar gain-of-function phenomenon related to altered deSUMOylation 21887725. 20562447
Progressive cardiac conduction disease v0.17 SCN5A Rebecca Whittington commented on gene: SCN5A: Pubmed: 25426816. Main gene involved in PCCD. at least 16 distinct mutations in SCN5A have been found to cause conduction alterations and block in patients and their families. The vast majority of these mutations, when functionally characterized, reduced the sodium current, thereby leading to a loss of function consistent with the slowed cardiac conduction observed in patients.
Progressive cardiac conduction disease v0.17 SCN1B Rebecca Whittington commented on gene: SCN1B: Pubmed: 25426816. Encodes beta1 subunit of Nav1.5. Variants identified in families with conduction alterations (and some cases Brugada). All variants found to decrease Nav1.5 - mediated channel in cellular expression system compared to controls. HGMD - 2 DM variants associated with PCCD on HGMD, however 1 reclassified as a VUS. Functional studies 28878239.
Progressive cardiac conduction disease v0.17 KCNK17 Rebecca Whittington commented on gene: KCNK17: PCCD patient with idiopathic ventricular fibrillation, whole exome sequencing identified a missense mutation G88R, in the gene KCNK17, which codes for the potassium channel TASK-4. This mutation led to a gain of function of the TASK-4-mediated current and may, similarly to the gain-of-function mechanisms proposed for TRPM4 24972929
Long QT syndrome v1.25 SCN4B Rebecca Whittington commented on gene: SCN4B: Looks to be evidence in the Medeiros-Domingo paper (PMID 17592081) of a variant that tracked in a family, not on GnomAD and also functional evidence. PMID: 23631430. PMID: 23604097.
Long QT syndrome v1.25 RYR2 Rebecca Whittington commented on gene: RYR2: Gene associated With CPVT mainly but reported with LQT cases (PMID 26132555). PMID: 21126784. http://www.avidscience.com/wp-content/uploads/2017/07/update-on-the-genetic-basis-of-long-qt-syndrome.pdf. https://www.ahajournals.org/doi/abs/10.1161/circ.134.suppl_1.20155.
Long QT syndrome v1.25 NOS1AP Rebecca Whittington commented on gene: NOS1AP: Not enough evidence for this gene. PMID:26132555. PMID: 20538168.
Long QT syndrome v1.25 KCNE3 Rebecca Whittington commented on gene: KCNE3: No evidence for LQT - ? some evidence assoc with Brugada. PMID:19122847. PMID: 22987075. PMID 19306396.
Long QT syndrome v1.25 CAV3 Rebecca Whittington commented on gene: CAV3: Not a definitive link for this gene and LQT. May need Clinical input to rule out. PMID:26132555. PMID:17275750. PMID: 24021552. PMID: 17060380.
Long QT syndrome v1.25 CALM1 Rebecca Whittington commented on gene: CALM1: Evidence associated with CPVT primarily. Reported de novo variant in 6 year old boy (PMID: 28491771) with LQT but phenotype not clear (need clinical input). Other paper with strong de novo CALM1 variant in child with LQT and cardiac arrest (PMID:27374306). PMID 23388215.
Long QT syndrome v1.25 AKAP9 Rebecca Whittington commented on gene: AKAP9: No definitive evidence. Although listed on HGMD as associated with LQT - the evidence is not there to back it up. PMID:23174487. PMID:26132555. PMID: 249981977.
Long QT syndrome v1.25 SNTA1 Rebecca Whittington commented on gene: SNTA1: Rare LQT susceptibility gene - see Ueda paper for ? functional evidence. PMID:19684871. PMID:18591664. 23376825
Long QT syndrome v1.25 SCN5A Rebecca Whittington commented on gene: SCN5A: Established LQT gene - numerous literature evidence. PMID:23098067. PMID: 19716085. PMID: 15840176. https://www.sciencedirect.com/science/article/pii/S097262921730178X.
Long QT syndrome v1.25 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Numerous literature evidence from family studies and functional studies - established gene. PMID:19716085. PMID:17470695. PMID: 26344792. PMID: 16253915.
Long QT syndrome v1.25 KCNJ5 Rebecca Whittington commented on gene: KCNJ5: Literature evidence includes a large Chinese Pedigree. PMID:20560207. PMID:25322277. PMID: 24574546.
Long QT syndrome v1.25 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: Lots of literature evidence for this gene. PMID: 16217063. PMID: 23440193. PMID: 17221872. PMID: 24861851.
Long QT syndrome v1.25 KCNH2 Rebecca Whittington commented on gene: KCNH2: Literature/functional evidence for this established LQT gene. PMID:28749435. PMID:19716085. PMID: 22429796.
Long QT syndrome v1.25 KCNE2 Rebecca Whittington commented on gene: KCNE2: Literature/functional evidence for this gene. PMID:19716085. PMID:27465075. PMID:20042375.
Long QT syndrome v1.25 KCNE1 Rebecca Whittington commented on gene: KCNE1: Lots of literature evidence for this gene. Possible milder phenotype. PMID:19716085. PMID: 17341399. PMID: 14499862.
Long QT syndrome v1.25 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Literature and functional evidence for this gene. PMID: 25633834. PMID:30023270. PMID:27390944. PMID 24728418.
Long QT syndrome v1.25 ANK2 Rebecca Whittington commented on gene: ANK2: Does not look like classic LQT, patients that have variants sometime asymptomatic. Some variants reported are too frequent.PMID:26132555. PMID: 16253912. PMID: 17242276. PMID:15178757.
Long QT syndrome v1.25 CALM3 Rebecca Whittington commented on gene: CALM3: Literature evidence that de novo variant found in patient with severe LQT (PMID25460178) . Also, some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see 27516456
Long QT syndrome v1.25 CALM2 Rebecca Whittington commented on gene: CALM2: Literature evidence -see PMID: 24917665. PMID:26969752. PMID 23388215.
Long QT syndrome v1.25 ALG10 Rebecca Whittington commented on gene: ALG10: No evidence for this gene to include. PMID:15280551
Hypertrophic cardiomyopathy v1.52 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: No OMIM phenotype associated. 3 DM variants reported to HGMD associated with HCM, all reclassified - 1 LB and 2 VUS based on functional studies. 23299917: overrepresentation of previously cardiomyopathy-associated genetic variants in population-based exome data. Insufficient evidence to include.
Hypertrophic cardiomyopathy v1.52 TTR Rebecca Whittington commented on gene: TTR: 29567486 /28369730: HCM phenocopy. OMIM 105210 - hereditary, transthyretin-related Amyloidosis: cardiomyopathy associated with phenotype. Few DM variants on HGMD associated with cardiomyopathy, HCM only are VUS. 28635949: specific cardiac variants in this gene.
Hypertrophic cardiomyopathy v1.52 FLNC Rebecca Whittington commented on gene: FLNC: 28369730: Strong evidence, but relatively high frequency of rare variants in population (3.2%). Further characterisation required. 28356264 Gomez 2016 (Circ Cardiovasc Genet. 2017;10:e001584. DOI: 10.1161/CIRCGENETICS.116.001584.) : 6 LP variants in 7 patients. Classification based on ACMG and segregation.
Hypertrophic cardiomyopathy v1.52 ACTN2 Rebecca Whittington commented on gene: ACTN2: Reported to segregate in relatively large pedigrees, but LOD score <3. Moderate evidence: 28082330. Classified as a core HCM gene: 29567486
Hypertrophic cardiomyopathy v1.52 TPM1 Rebecca Whittington commented on gene: TPM1: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TNNT2 Rebecca Whittington commented on gene: TNNT2: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TNNI3 Rebecca Whittington commented on gene: TNNI3: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TNNC1 Rebecca Whittington commented on gene: TNNC1: Troponin complex. Multiple reports to HGMD, a lot of functional evidence but does not appear to be any segregation. Classified as a main HCM causing gene in: 28369730. Weak evidence for primary pathogenic role: 28082330 - ?modifier. Minor HCM gene - 28790153. Termed core gene: 29567486
Hypertrophic cardiomyopathy v1.52 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 PLN Rebecca Whittington commented on gene: PLN: Rare HCM gene - strong evidence 28082330 for primary role. Only 3 missense variants on HGMD as LP does not appear to be segregation (27532257; 26573135). 2 regulatory variants - 16829191 with some functional work.
Hypertrophic cardiomyopathy v1.52 MYL3 Rebecca Whittington commented on gene: MYL3: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 MYL2 Rebecca Whittington commented on gene: MYL2: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 MYH7 Rebecca Whittington commented on gene: MYH7: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 LAMP2 Rebecca Whittington commented on gene: LAMP2: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 GLA Rebecca Whittington commented on gene: GLA: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 FHL1 Rebecca Whittington commented on gene: FHL1: HCM phenocopy - well established gene
Hypertrophic cardiomyopathy v1.52 CSRP3 Rebecca Whittington commented on gene: CSRP3: Rare HCM gene. Strong evidence: 28082330. Well established gene
Hypertrophic cardiomyopathy v1.52 ACTC1 Rebecca Whittington commented on gene: ACTC1: Sarcomeric HCM genes - well established gene
Hypertrophic cardiomyopathy v1.52 TRIM63 Rebecca Whittington commented on gene: TRIM63: Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3.
Hypertrophic cardiomyopathy v1.52 TMEM70 Rebecca Whittington commented on gene: TMEM70: DOI: 10.1016/j.ymgme.2014.01.001 - HCM key feature of AR disease.
Hypertrophic cardiomyopathy v1.52 MYOZ2 Rebecca Whittington commented on gene: MYOZ2: Four DM variants on HGMD with two references: Cecconi (2016) Int J Mol Med 38: 1111 PubMed: 27600940 and Osio (2007) Circ Res 100: 766 PubMed: 17347475. Mouse model generated using a couple of missesnse variants detected and suggest involvement in HCM: Ruggiero (2013) Cardiovasc Res 97: 44 PubMed: 22987565. May be a rare cause of disease. 1 of these variants has been downgraded to a VUS given MAF. Insuffient evidence, no segregation.
Hypertrophic cardiomyopathy v1.52 MYOM1 Rebecca Whittington commented on gene: MYOM1: HGMD: 8 DM variants listed all but one with HCM (the 8th variant assoc with DCM) Cecconi (2016) Int J Mol Med 38: 1111 PubMed: 27600940 lists some of these variants. All missense. Bottillo (2016) Gene 577: 227 PubMed: 26656175 .
Hypertrophic cardiomyopathy v1.52 VCL Rebecca Whittington commented on gene: VCL: Reports on HGMD are VUS (2 downgraded)
Hypertrophic cardiomyopathy v1.52 TTN Rebecca Whittington commented on gene: TTN: Limited evidence for HCM
Hypertrophic cardiomyopathy v1.52 TSFM Rebecca Whittington commented on gene: TSFM: AR Multisystemic disorder which a feature can be HCM. https://omim.org/clinicalSynopsis/610505
Hypertrophic cardiomyopathy v1.52 TCAP Rebecca Whittington commented on gene: TCAP: 6 cases on HGMD, only 2 DM reported 15582318. 1 of these has since been reclassified as LB. 28518168
Hypertrophic cardiomyopathy v1.52 SOS1 Rebecca Whittington commented on gene: SOS1: Rasopathy gene. https://omim.org/clinicalSynopsis/610733. HCM and stenosis can be a key feature as shown in OMIM.
Hypertrophic cardiomyopathy v1.52 SLC25A4 Rebecca Whittington commented on gene: SLC25A4: AR or AD mitochondrial gene with a key feature of HCM but very severe and infantile presentation.
Hypertrophic cardiomyopathy v1.52 SLC25A3 Rebecca Whittington commented on gene: SLC25A3: AR mitochondrial gene with a key feature of HCM but very severe and infantile presentation.
Hypertrophic cardiomyopathy v1.52 SHOC2 Rebecca Whittington commented on gene: SHOC2: Four variants associated with Noonan/rasopathy/similar features. https://omim.org/clinicalSynopsis/607721.
Hypertrophic cardiomyopathy v1.52 SCO2 Rebecca Whittington commented on gene: SCO2: BGL - No variants detected: https://omim.org/clinicalSynopsis/604377 infantile onset AR gene. HCM associated. On HGMD very mixed phentypes with Cardioencephalomyopathy, fatal infantile. Mitochondrial related disease: Chadha (2014) Bioinformation 10: 329 PubMed: 25097374.
Hypertrophic cardiomyopathy v1.52 RAF1 Rebecca Whittington commented on gene: RAF1: May be a rare DCM gene. Pandit et al (2007) Nat Genet 39(8):1007. Dhandapandy et al (2014) Nat Genet 46(6): 635. Kneitel et al (2015) Fetal Pediatr Pathol 34(6):361. Is a rasopathy gene also. No evidence for HCM
Hypertrophic cardiomyopathy v1.52 PTPN11 Rebecca Whittington commented on gene: PTPN11: Some patients may have HCM
Hypertrophic cardiomyopathy v1.52 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: Possibly associated with DCM but not alot of literature evidence. Does not appear to be associated with HCM.
Hypertrophic cardiomyopathy v1.52 NRAS Rebecca Whittington commented on gene: NRAS: Rasopathy gene. In HGMD mainly associated with Noonans/Costello syndrome
Hypertrophic cardiomyopathy v1.52 MYO6 Rebecca Whittington commented on gene: MYO6: 1 report of HCM with deafness. 15060111
Hypertrophic cardiomyopathy v1.52 MT-TL1 Rebecca Whittington commented on gene: MT-TL1: No evidence
Hypertrophic cardiomyopathy v1.52 MRPL3 Rebecca Whittington commented on gene: MRPL3: HGMD - 1 DM variant assoc with AR HCM. Only one paper: Galmiche (2011) Hum Mutat 32: 1225 PubMed: 21786366 .
Hypertrophic cardiomyopathy v1.52 MAP2K2 Rebecca Whittington commented on gene: MAP2K2: 30 DM variants on HGMD - mainly associated with cardio-facio-cutaneous syndrome.
Hypertrophic cardiomyopathy v1.52 MAP2K1 Rebecca Whittington commented on gene: MAP2K1: Rasopathy gene. Variants in HGMD associated with Cardio-facio-cutaneous syndrome, Noonan and Costello syndrome.
Hypertrophic cardiomyopathy v1.52 LMNA Rebecca Whittington commented on gene: LMNA: 1 report on HGMD associated with HCM, other cardiomyopathy phenotypes described
Hypertrophic cardiomyopathy v1.52 LDB3 Rebecca Whittington commented on gene: LDB3: 1 report on HGMD associated with HCM
Hypertrophic cardiomyopathy v1.52 KLF10 Rebecca Whittington commented on gene: KLF10: 6 DM variants on HGMD reported in , but 3 reduced pathogenicity following subsequent review. (pubmed 22234868, 30165862, 23299917)
Hypertrophic cardiomyopathy v1.52 KCNQ1 Rebecca Whittington commented on gene: KCNQ1: Arrhythmia gene
Hypertrophic cardiomyopathy v1.52 HRAS Rebecca Whittington commented on gene: HRAS: Listed in many panels. OMIM: https://omim.org/clinicalSynopsis/218040 - lists HCM and other anomalies such as CHD features. HGMD: mainly costello syndrome 1 report of HCM on it's own.
Hypertrophic cardiomyopathy v1.52 GUSB Rebecca Whittington commented on gene: GUSB: Patients with cardiac arrest and HCM described on OMIM, but not a key feature or presenting feature.
Hypertrophic cardiomyopathy v1.52 GLB1 Rebecca Whittington commented on gene: GLB1: OMIM: only listed with HCM/DCM in GM1-gangliosidosis, type I - infantile form (not type II or III or Morquio disease) https://omim.org/entry/230500. But quite a few of the pathogenic classed variants on HGMD are associated with the infantile form. But cardiomyopathy only seen in a subset of patients not a key feature
Hypertrophic cardiomyopathy v1.52 GAA Rebecca Whittington commented on gene: GAA: Cardiomyopathy is a feature in the infantile forms of Pompe disease :Indeed, Pompe (1932) reported this condition as 'idiopathic hypertrophy of the heart,' and 'cardiomegalia glycogenica' is a synonym.
Hypertrophic cardiomyopathy v1.52 FXN Rebecca Whittington commented on gene: FXN: 1 report associated
Hypertrophic cardiomyopathy v1.52 FOXRED1 Rebecca Whittington commented on gene: FOXRED1: Mitochondrial complex I deficency has HCM.
Hypertrophic cardiomyopathy v1.52 CRYAB Rebecca Whittington commented on gene: CRYAB: On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3. HGMD: 24 DM variants associated mainly with paeditaric cataracts though some patients can have cardiomyopathy and myopathy. Some truncating variants associated with cardiomyopathy. A number of variants have functional studies eg: Raju (2013) Biochem Biophys Res Commun 430: 107 PubMed: 23194663 of a variant assoc with cataracts, cardiomyopathy and myopathy.
Hypertrophic cardiomyopathy v1.52 COA5 Rebecca Whittington commented on gene: COA5: AR cardiomyopathy encephalopathy: HGMD only 1 variant: CM112438 Hypertrophic cardiomyopathy, fatal neonatal DM COA5 The A53P substitution does not exhibit a shift in polarity and displays a decrease in Kyte-Doolittle hydrophobicity from 1.8 to -1.6. Approximately 0.88% of missense mutations in HGMD are Ala-Pro. The mutation occurs 22 amino acids from the end of the protein. Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908.Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908. Homozygous varaints associated with neonatal cardiomyopathy.
Hypertrophic cardiomyopathy v1.52 CAV3 Rebecca Whittington commented on gene: CAV3: OMIM association with LQT9. Limited evidence for disease association. HGMD reports in association with several disorders including 2 DM variants in HCM (26656175,14672715) . Main association rippling muscle disease and LGMD. A few associated with LQT.
Hypertrophic cardiomyopathy v1.52 CASQ2 Rebecca Whittington commented on gene: CASQ2: ON HGMD assoc with CPVT and ventricular tachycardia (Good evidence).
Hypertrophic cardiomyopathy v1.52 CALR3 Rebecca Whittington commented on gene: CALR3: HGMD: 2 x DM variants associated with HCM; Chiu (2007) J Mol Cell Cardiol 43: 337 PubMed: 17655857 - both variants reported here are reported in ESP population.
Hypertrophic cardiomyopathy v1.52 CACNA1C Rebecca Whittington commented on gene: CACNA1C: HGMD - 1 variant described with HCM Pubmed: 24183960
Hypertrophic cardiomyopathy v1.52 BRAF Rebecca Whittington commented on gene: BRAF: Rasopathy gene. HCM reported in Cardiofaciocutaneous syndrome and other heart defects in Leopard Syndrome.
Hypertrophic cardiomyopathy v1.52 ATP5E Rebecca Whittington commented on gene: ATP5E: Not listed on HGMD, OMIM: 1 nonsense variant and associated with mitochondrial disease, patient has HCM: Mayr Hum Mol Genet. 2010 Sep 1;19(17):3430-9. doi: 10.1093/hmg/ddq254. Epub 2010 Jun 21.
Hypertrophic cardiomyopathy v1.52 AGL Rebecca Whittington commented on gene: AGL: Assoc with AR glycogen storage disease - cardiomyopathy can be a key feature and age of onset is broad range - can be undefined myopathy: https://omim.org/clinicalSynopsis/232400.
Hypertrophic cardiomyopathy v1.52 ACADVL Rebecca Whittington commented on gene: ACADVL: BGL: 5 variants detected all heterozygous. 2 LP or P. Just for paediatric panel due to BioMet guidelines. OMIM: can be key feature associated with cardiomyopathy and sudden death - infantile.
Hypertrophic cardiomyopathy v1.52 NEXN Rebecca Whittington commented on gene: NEXN: Functional data only 28369730. Included as a minor HCM gene in 28790153. 2 pathogenic variants reported to HGMD associated with HCM: 20970104 - 1 MAF 0.6%, other present in 2 alleles. Lots of VUS.
Hypertrophic cardiomyopathy v1.52 MYPN Rebecca Whittington commented on gene: MYPN: Very rare assoc with cardiomyopathy. 23 DM variants on HGMD ranging from missense to truncation. Majority associated with some type of cardiomyopathy. Duboscq-Bidot L et al (2008). Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 77: 118-125. Purevjav (2012) Hum Mol Genet 21: 2039 PubMed: 22286171. Chen (2017) J Transl Med 15: 78 PubMed: 28427417. MYPN mutations cause either a cardiac (AD) or a congenital skeletal muscle disorder (AR) through different modes of inheritance pUBMED 28220527. Functional evidence only - 28082330, 28369730
Hypertrophic cardiomyopathy v1.52 MYLK2 Rebecca Whittington commented on gene: MYLK2: HGMD: 4 variants listed as DM all associated with HCM. 1 x nonsense, but seen with other variants in a sudden death case: Suktitipat (2017) PLoS One 12: e0180056 PubMed: 28704380. Functional evidence only according to: 10.1093/eurheartj/ehw603. Limited segregation evidence
Hypertrophic cardiomyopathy v1.52 JPH2 Rebecca Whittington commented on gene: JPH2: Weak evidence for primary role in pathogenicity: 28082330. Insufficient evidence, no supporting segregation, despite functional assays. PMID: 28393127 - a novel variant identified in a proband with significant basal septal hypertrophy. Neither parents were genotyped. his mutation was absent in 159,358 reference alleles. Variants in in MYH7, MYBPC3, MYL2, MYL3, TTNT2, TTNI3, TNNC1, TPM1, ACTC, PRKAG2, GLA, and LAMP2 genes, were excluded in this patient. Mice with this variant exhibit similar basal hypertrophy using a newly developed echo imaging plane, and this was confirmed using cardiac MRI. Histological analysis demonstrated cardiomyocyte hypertrophy and disarray consistent with HCM. 3 additional missense variants reported in 3 cases in PMID: 17509612 (2007), however another missense variant Gly550Ser in this gene has been reclassified as unknown pathogenic significance, due to presence in allele frequency databases. HGMD: 8 DM variants - 3 DCM rest HCM. Functional studies shown an effect in JPH2 but no variants with evidence of segregation. 10.1093/eurheartj/ehw603
Hypertrophic cardiomyopathy v1.52 DES Rebecca Whittington commented on gene: DES: 3 DM variants associated with HCM on HGMD. Pubmed: 29167554, 29907873 with mixed phenotypes. Functional characterisation in 1 variant 21262226, 17221859
Hypertrophic cardiomyopathy v1.52 ACTA1 Rebecca Whittington commented on gene: ACTA1: Tadokoro 2018 (Journal of the Neurological Sciences 393 (2018) 142144: 1) patient but presented case series of 7 patients presenting with myopathy and 2 had DCM five others had HCM, all childhood onset so needs to be on paediatric panel. 15520409 (2004) shows segregation of variants with disease in two multi generational families.
Hypertrophic cardiomyopathy v1.52 MYH6 Rebecca Whittington commented on gene: MYH6: No - Cardiomyopathy, dilated, 1EE OMIM 613252 . Inheritance unknown (OMIM) Weak evidence according to 28082330. Not listed in 28369730
Dilated Cardiomyopathy and conduction defects v1.54 XK Rebecca Whittington commented on gene: XK: https://omim.org/clinicalSynopsis/300842 - 60% of patients have DCM and AF. R Many pathogenic variants reported on HGMD. Appears that DCM may be a key feature but may not be a presenting feature
Dilated Cardiomyopathy and conduction defects v1.54 TXNRD2 Rebecca Whittington commented on gene: TXNRD2: Sibbing Eur Heart J.2011 May;32(9):1121-33. doi: 10.1093/eurheartj/ehq507. Epub 2011 Jan 18. ?Mouse model and three DCM patients with missense variants. HGMD 3 variants assoc with DCM, including Sibbing and Dal Ferro. some freq in GnomAD for these variants.
Dilated Cardiomyopathy and conduction defects v1.54 TTR Rebecca Whittington commented on gene: TTR: Usually more LVH asssociated with late onset amyeloidosis but in our patient the TTN variant may have modifying the phenotype. Many pathogenic variants detected and some specifically with cardiac features: Iorio et al (2017) Eur J Hum Genet 25:1055.
Dilated Cardiomyopathy and conduction defects v1.54 TMPO Rebecca Whittington commented on gene: TMPO: Taylor 2005 Hum Mutat 26(6), 566574, 2005.1 variant but high freq and adult onset.
Dilated Cardiomyopathy and conduction defects v1.54 TMEM43 Rebecca Whittington commented on gene: TMEM43: HGMD: five variants three ?DM through Walsh 2017 and 2 DM through Dal Ferro 2017. Not strong evidence
Dilated Cardiomyopathy and conduction defects v1.54 SYNE2 Rebecca Whittington commented on gene: SYNE2: The association with DCM is not strong. Banerjee :February 2014 | Volume 10 | Issue 2 | e1004114 - Mouse model and other evidence : Duong NT, Morris GE, Lam LT, Zhang Q, Sewry CA, et al. (2014) Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms. PLoS ONE 9(4):e94380. doi:10.1371/journal.pone.0094380.
Dilated Cardiomyopathy and conduction defects v1.54 SYNE1 Rebecca Whittington commented on gene: SYNE1: The association with DCM is not strong. Banerjee :February 2014 | Volume 10 | Issue 2 | e1004114 - Mouse model and other evidence : Duong NT, Morris GE, Lam LT, Zhang Q, Sewry CA, et al. (2014) Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms. PLoS ONE 9(4):e94380. doi:10.1371/journal.pone.0094380. 3 missense variants detected in SYNE1 assoc with DCM, functional studies undertaken but no family studies: Zhou Human Molecular Genetics, 2017, Vol. 26, No. 12.
Dilated Cardiomyopathy and conduction defects v1.54 RYR2 Rebecca Whittington commented on gene: RYR2: HGMD: 19 RYR2 variants assoc with DCM, only 3 classed as DM which are all truncating variants. Haas 2015 - two truncating variants one nonsense and one frameshift on HGMD - one classed as ?DM and other as DM. Dal Ferro 2017 - One frameshift variant classed as LP in DCM.
Dilated Cardiomyopathy and conduction defects v1.54 PRKAG2 Rebecca Whittington commented on gene: PRKAG2: Variants mainly assoc with HCM. HGMD: 3 variants assoc with DCM: 1 x Lu 2017 (Lu et al. J Transl Med (2018) 16:241) - VUS using ACMG. 2 x on LMM data(Walsh 2017) one has probably too high freq and also reported in LVNC, other variant no freq.
Dilated Cardiomyopathy and conduction defects v1.54 PRDM16 Rebecca Whittington commented on gene: PRDM16: HGMD - DCM, LVNC and sudden death. Only 7 /21 variants classed as DM on HGMD, rare cause? 5 truncating variants on HGMD assoc with DCM or LVNC eg Meng (2017) ( JAMA Pediatr 171: 173438 PubMed: 28973083) de novo nonsense in a child in intensive care not clear if patient has DCM. Arndt (2013) Am J Hum Genet 93, 67) Seven variants detected four have freq, the two truncating variants look like they are pathogenic along with one missense but all are assoc with LVNC rather than DCM. This evidence was refuted by de Leeuw (2014) Am J Hum Genet 94: 153 PubMed: 24387995.
Dilated Cardiomyopathy and conduction defects v1.54 PKP2 Rebecca Whittington commented on gene: PKP2: HGMD: 8 variants assoc with DCM all ?DM, 6 reported by Walsh, 1 x Dal Ferro and 1 x Elliot 2010: This variant p.Ser140Phe was detected in three unrelated DCM patients. No family studies.
Dilated Cardiomyopathy and conduction defects v1.54 PDLIM3 Rebecca Whittington commented on gene: PDLIM3: Possibly associated with DCM but not alot of literature evidence: Pashmforoush M et al (2001). Adult mice deficient in actin-associated LIM-domain protein reveal a developmental pathway for right ventricular cardiomyopathy. Nat Med 7(5):591-7. HGMD - 2 truncating variants detected with DCM, Haas 2015 - listed as a candidate variant with no other evidence and Arola 2017 ( Arola (2007) Mol Genet Metab 90, 435): 1 patient with a frameshift variant - patient presented in pregnancy and died a year later, mother may have had AVB but no family studies reported - this variant has 9 alleles listed on GnomAD.
Dilated Cardiomyopathy and conduction defects v1.54 NEBL Rebecca Whittington commented on gene: NEBL: Literature: Purevjav J Am Coll Cardiol. 2010 October 26; 56(18): 14931502 - a number of variants assoc with DCM and mouse models but high frequency in GnomAD. Perrot 2016: Arch Med Sci 2016; 12, 2: 263278, six variants reported and expanded phenotype to HCM and LVNC. Three have frequencies higher than expected for disease causing variant. HGMD: Nine variants assoc DCM, only 3 classed as DM - two of these have high freq and we have down graded to LB. No segregation as far as I can see.
Dilated Cardiomyopathy and conduction defects v1.54 MYL3 Rebecca Whittington commented on gene: MYL3: 26 variants listed as DM on HGMD, 1 assoc with DCM: Zhao 2015 Int J Mol Med. 2015 Dec;36(6):1479-86. doi: 10.3892/ijmm.2015.2361 - 1 variant assoc with DCM no freq but weak BI. Epub 2015 Oct 7.
Dilated Cardiomyopathy and conduction defects v1.54 MYL2 Rebecca Whittington commented on gene: MYL2: 48 DM variants listed on HGMD -including in Walsh 2017. Also Alfares (2015) Genet Med 17: 880 PubMed: 25611685. Mainly HCM. 2x DCM reported from Walsh as VUS.GOOGLE: Huang 2015 (FEBS J. 2015 June ; 282(12): 23792393. doi:10.1111/febs.13286.) identified a variant tracking with DCM in 3 family members and functional studies support pathogenicity, no freq on GnomAD and a follow up paper by Yang PNAS March 6, 2018 115 (10) E2338-E2347 undertook functional studies of this variant in mice. Weterman 2013 Brain 2013: 136; 282293- suggest a homozygous MYL2 was found tracking with disease with muscle fibre disease and DCM - also an Italian patient with similar features was compound het for variants in this gene. Summary: Not so much evidence in HGMD but google - 1 paper with a variant tracking with disease with functional studies and a follow up paper with a mouse model. then some evidence of AR muscle and DCM phenotype in two papers.
Dilated Cardiomyopathy and conduction defects v1.54 LAMP2 Rebecca Whittington commented on gene: LAMP2: 90 DM variants on HGMD, some with DCM and HCM: Including in Walsh by Oxford lab - pathogenic truncating variant. DCM: 5 variants, 2 deemed DM. 1 in a patient with DCM no other genetic cause - two unaffected children do not have the variant Kyaw 2018. 1 CNV call as pathogenic. Note: DCM is part of the clinical synopsis: https://omim.org/clinicalSynopsis/300257
Dilated Cardiomyopathy and conduction defects v1.54 LAMA4 Rebecca Whittington commented on gene: LAMA4: HGMD: 11 variants assoc with DCM on HGMD only 3 classed as pathogenic - two in Knoll 2007, both have some functional studies. Six variants from Walsh 2017 as VUS. 1 from Marston 2015 assoc with DCM but no further info.
Dilated Cardiomyopathy and conduction defects v1.54 JUP Rebecca Whittington commented on gene: JUP: PubMED: 29567486 - core gene. Five variants assoc with DCM on HGMD they all have some freq - though 4 are <4 alleles on GnomAD, references include Walsh 2017 and Haas 2015 . Lots of evidence on HGMDPro for ARVC.
Dilated Cardiomyopathy and conduction defects v1.54 ILK Rebecca Whittington commented on gene: ILK: HGMD: 2 DM variants in this gene (1 x DCM and 1 x HCM) and 5 associated with DCM overall - 1 x DCM Knoll 2007 - some functional studies to support pathogenicity [1 xHCM. Bottillo (2016) Gene 577: 227 PubMed: 26656175]. Dalin 2017 reports four missense variants assoc with DCM (3 by Haas 2015 as VUS - one also reported in Knoll - has no GnomAD freq). One patient had a previously reported MYBPC3 variant and one had a TTN frameshift variant.
Dilated Cardiomyopathy and conduction defects v1.54 GLA Rebecca Whittington commented on gene: GLA: HCM phenocopy
Dilated Cardiomyopathy and conduction defects v1.54 FLNC Rebecca Whittington commented on gene: FLNC: Literature: Begay 2016 2 Italian families with segregation of the same splice variant and a US family with a different splice variant segregating with disease. Western blotting supported evidence of pathogenicity.
Dilated Cardiomyopathy and conduction defects v1.54 FHL2 Rebecca Whittington commented on gene: FHL2: HGMD Only two variants assoc with DCM - both know freq but classed as 3 in Walsh 2017 and Dal Ferro 2017. Also only 2 DM variants assoc with HCM - but some functional studies show downregulation of this gene in HCM: Friedrich (2014) Basic Res Cardiol 109: 451 PubMed: 25358972 FHL2 expression and variants in hypertrophic cardiomyopathy.
Dilated Cardiomyopathy and conduction defects v1.54 FHL1 Rebecca Whittington commented on gene: FHL1: Core HCM gene
Dilated Cardiomyopathy and conduction defects v1.54 EMD Rebecca Whittington commented on gene: EMD: Missense variants in this gene have been detected in patients with DCM, cardiac conduction defects (including heart block) and later onset muscular dystrophy (Ellis et al, 1999) or DCM alone. Mook et al, 2013 - 1 variant VUS Mook ORF, et al. J Med Genet 2013;50:614626. doi:10.1136/jmedgenet-2012-101231. Cuenca et al, 2016 describes a founder EMD mutation in 13 unrelated families with DCM in Teneriefe, the variant has no pop freq on GnomAD. Usually assoc with Emery muscular dystrophy. HGMD: all DM entries assoc with EMD.
Dilated Cardiomyopathy and conduction defects v1.54 DSG2 Rebecca Whittington commented on gene: DSG2: HGMD: 2 variants classed DM with DCM: Garcia-Pavia (2011) Heart 97: 1744 - Four variants in patients with DCM only one classed as pathogenic as frameshift. Walsh 2017 (Walsh (2017) Genet Med 19: 192) - 1 variant VUS -4 which was classed as pathogenic by Elliot 2010 ( Elliott (2010) Circ Cardiovasc Genet 3: 314 ) and NG 2013 (Ng (2013) Circ Cardiovasc Genet 6: 337) but has a freq of 0.0079%. No family studies but two variants identified in patients with a second variant and FH.
Dilated Cardiomyopathy and conduction defects v1.54 DSC2 Rebecca Whittington commented on gene: DSC2: Literature: Dal Ferro 2017 - 1 LP vairant assoc with DCM. Some suggestion that can be associated with DCM but not strong.Though ARVC may present in LV or biventricular and may appear to be DCM. HGMD: only 9 DSC2 variants assoc with DCM in HGMD and only 2 deemed DM, neither has freq on GnomAD.
Dilated Cardiomyopathy and conduction defects v1.54 DOLK Rebecca Whittington commented on gene: DOLK: AR DCM is a key feature from birth:he second family reported by Kranz et al. (2007) included 2 affected sibs born of consanguineous Turkish parents. In the first sib, ichthyosis congenita with inflammation of the skin was present at birth. At age 5 months, progressive hair loss was nearly complete, with sparse eyelashes and eyebrows. Dilated cardiomyopathy was present from birth and persisted throughout life. Severe muscular hypotonia was present and death occurred at home at age 7 months, most likely from aspiration. A sister showed muscular hypotonia at birth, and progressive dilated cardiomyopathy developed shortly after birth. Lefeber et al (2011) PlosGenet 7(12):e1002427.Infantile to late childhood onset. But teens can be affected - see Lefeber 2011 - case series which segregates with disease - 1 teenage and other cases 9/10 year olds. One case in the lab of a teenager with DCM and two variants in this gene.
Dilated Cardiomyopathy and conduction defects v1.54 DNAJC19 Rebecca Whittington commented on gene: DNAJC19: Seems rare but in HGMD all variants DCM and truncating and in AR DCM: Ucar (2017) JIMD Rep 35: 39 PubMed: 27928778 . May be a rare candiate gene but paediatric onset
Dilated Cardiomyopathy and conduction defects v1.54 DMPK Rebecca Whittington commented on gene: DMPK: Myotonic dystrophy gene - a few variants found in the lab but main cause of disease is expansion. HGMD - no variant listed with cardiomyopathy
Dilated Cardiomyopathy and conduction defects v1.54 CTF1 Rebecca Whittington commented on gene: CTF1: Only one DM report on HGMD: Erdmann (2000) Hum Mutat 16: 448 PubMed: 11058912 with DCM.
Dilated Cardiomyopathy and conduction defects v1.54 MYPN Rebecca Whittington commented on gene: MYPN: Very rare assoc with cardiomyopathy. 23 DM variants on HGMD ranging from missense to truncation. Majority associated with some type of cardiomyopathy. Duboscq-Bidot L et al (2008). Mutations in the Z-band protein myopalladin gene and idiopathic dilated cardiomyopathy. Cardiovasc Res. 77: 118-125. Purevjav (2012) Hum Mol Genet 21: 2039 PubMed: 22286171 - variant where func studies undertaken and seen in HCM and DCM has 294 alleles on Gnomad so suggest this is not a pathogenic variant. Chen (2017) J Transl Med 15: 78 PubMed: 28427417. Haas 2015 Four variants listed assoc with DCM but three have quite high freq and the fourth is a nonsense with no freq. Summary: Quite a number of variants reported associated with DCM, just from two studies only 1/5 variants has no freq the other may be too high to be disease causing. Note in Purevjav struggling to tie up c. and p. nomenclature in Alamut in NM_032578.2 as quoted in paper.
Dilated Cardiomyopathy and conduction defects v1.54 CRYAB Rebecca Whittington commented on gene: CRYAB: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 3. HGMD: 24 DM variants associated mainly with paeditaric cataracts though some patients can have cardiomyopathy and myopathy. Some truncating variants associated with cardiomyopathy. A number of variants have functional studies eg: Raju (2013) Biochem Biophys Res Commun 430: 107 PubMed: 23194663 of a variant assoc with cataracts, cardiomyopathy and myopathy.
Dilated Cardiomyopathy and conduction defects v1.54 ANKRD1 Rebecca Whittington commented on gene: ANKRD1: Reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 8. HGMD: 9 DM entries with DCM or HCM (1 with a CHD phenotype). Literature from HGMD: Dalin 2017: missense variants assoc with DCM. 3 variants listed assoc with DCM + a nonsense variant - 2 have ExAC data of 0.04 and 0.02% so may be too high freq. 11 variants listed in this paper in another table all but three have freq data >0.01%. Duboscq-Bidot 2009 - Five DCM families some segregation - probably only 2 informative segregations across five families but minimal data. Functional studies suggest pathogenicity. Moulik 2009 J Am Coll Cardiol. 2009 July 21; 54(4): 325333. 3 vairants in four DCM patients but two have reasonably high freq, no segregation but functional studies - suggest 1.9% of DCM cases and Duboscq-Bidot suggest 2% DCM cases. Not much more recently apart from Dalin where possibly 3 candidate variants
Dilated Cardiomyopathy and conduction defects v1.54 VCL Rebecca Whittington commented on gene: VCL: HGMD: 6/17 variants assoc with DCM listed as DM. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 TTN Rebecca Whittington commented on gene: TTN: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 25% of DCM patients) and Pugh (2014) Genet Med 16, 601. Also refer to Roberts (2015) Sci Transl Med 7: 270ra6.
Dilated Cardiomyopathy and conduction defects v1.54 TPM1 Rebecca Whittington commented on gene: TPM1: GMD: 10/27 variants assoc with DCM classed as DM with some functional studies. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 TNNT2 Rebecca Whittington commented on gene: TNNT2: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 3% of DCM patients) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 TNNI3 Rebecca Whittington commented on gene: TNNI3: HGMD: 8/14 variants assoc with DCM are DM. Including functional studies. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - variants only detected in paediatric cases.
Dilated Cardiomyopathy and conduction defects v1.54 TNNC1 Rebecca Whittington commented on gene: TNNC1: HGMD: 6/11 variants assoc with DCM classed as DM, including the variant in our family. A number of these variants have functional studies. Listed in this review of DCM genes: Hershberger 2013 Nat Rev Cardiol 10:531 and Dalin 2017 International Journal of Cardiology 228 (2017) 742748 (no variants detected).
Dilated Cardiomyopathy and conduction defects v1.54 TCAP Rebecca Whittington commented on gene: TCAP: HGMD: 8 variants assoc with DCM, all but three are ?DM. Hirtle-Lewis Clin. Cardiol. 36, 10, 628633 (2013) found two clinically significant variants with DCM. Walsh 2017 - two DCM patients with same TCAP variants. Listed in this review of DCM genes: Hershberger 2013 Nat Rev Cardiol 10:531
Dilated Cardiomyopathy and conduction defects v1.54 TAZ Rebecca Whittington commented on gene: TAZ: Paediatric onset disease. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 SGCD Rebecca Whittington commented on gene: SGCD: HGMD: 6 variants all but one ?DM, though a number listed in Walsh through LMM and classified as LP. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748 (no variants though), Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 SCN5A Rebecca Whittington commented on gene: SCN5A: HGMD: Variant in our family reported 12 times to HGMD, with LQT and Brugada as well as DCM. 22 variants assoc with DCM reported to HGMD - 11 ?DM rest DM. Many with multiple literature evidence. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quotes 2-3% of DCM cases have an SCN5A variant) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 RBM20 Rebecca Whittington commented on gene: RBM20: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 2% of DCM patients) and Pugh (2014) Genet Med 16, 601 - mainly in paediatric cases. Also see Wells Circ Cardiovasc Genet. 2013 August ; 6(4): 317326 and Refaat Heart Rhythm. 2012 March ; 9(3): 390396.
Dilated Cardiomyopathy and conduction defects v1.54 RAF1 Rebecca Whittington commented on gene: RAF1: May be a rare DCM gene. Pandit et al (2007) Nat Genet 39(8):1007. Dhandapandy et al (2014) Nat Genet 46(6): 635. Kneitel et al (2015) Fetal Pediatr Pathol 34(6):361. Is a rasopathy gene also.
Dilated Cardiomyopathy and conduction defects v1.54 PLN Rebecca Whittington commented on gene: PLN: HGMD: 9 variants assoc with DCM but note appears to overlap of some variants with HCM, 2 x ?DM. All but one variant have multiple literature associated which is quite recent such as Walsh 2017 and Alfares 2015. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601. - Note not many variants in these three studies.
Dilated Cardiomyopathy and conduction defects v1.54 NEXN Rebecca Whittington commented on gene: NEXN: HGMD: 31 variants assoc with DCM only 10 DM. BGL: 17 class 3s in cardiomyopathy patients. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531
Dilated Cardiomyopathy and conduction defects v1.54 MYH7 Rebecca Whittington commented on gene: MYH7: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 4% of DCM patients) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 MYH6 Rebecca Whittington commented on gene: MYH6: HGMD: 31 variants assoc with DCM only 10 DM. BGL: 17 class 3s in cardiomyopathy patients. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 4% of DCM patients).
Dilated Cardiomyopathy and conduction defects v1.54 MYBPC3 Rebecca Whittington commented on gene: MYBPC3: Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 2% of DCM patients) and Pugh (2014) Genet Med 16, 601 (no clearly LP or pathogenic variants).
Dilated Cardiomyopathy and conduction defects v1.54 LMNA Rebecca Whittington commented on gene: LMNA: Core gene . Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 (quoted as 6% of DCM patients) and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 LDB3 Rebecca Whittington commented on gene: LDB3: HGMD: Four variants assoc with DCM - only one DM. Haas 2015 lists 2 as VUS. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 HFE Rebecca Whittington commented on gene: HFE: Adult onset haemochromatosis.
Dilated Cardiomyopathy and conduction defects v1.54 FKTN Rebecca Whittington commented on gene: FKTN: HGMD: 4 variants 3 x DM but older literature.
Dilated Cardiomyopathy and conduction defects v1.54 EYA4 Rebecca Whittington commented on gene: EYA4: HGMD: 1 x variant assoc with DCM and deafness: Schonberger (2005) Nat Genet 37, 418. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 DSP Rebecca Whittington commented on gene: DSP: HGMD: 52 variants assoc with DCM on HGMD. Many classed as ?DM (many from Walsh 2017). Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 DMD Rebecca Whittington commented on gene: DMD: HGMD: 40 variants listed including CNVs. Only 8 classed as VUS and all missense. 1 x nonsense Pathogenic: Cuenca (2016) J Heart Lung Transplant 35: 625. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531. Review: Nakamura Pharmaceuticals 2015, 8, 303-320; doi:10.3390/ph8020303
Dilated Cardiomyopathy and conduction defects v1.54 DES Rebecca Whittington commented on gene: DES: HGMD: 24 variants assoc DCM - 12 DM. Included in review of DCM genes: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601.
Dilated Cardiomyopathy and conduction defects v1.54 CSRP3 Rebecca Whittington commented on gene: CSRP3: 7 variants on HGMD only two DM. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748 - no variants detected, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 BAG3 Rebecca Whittington commented on gene: BAG3: Core gene. HGMD 40 variants listed with DCM only 2 VUS. Many truncating variants.In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531.
Dilated Cardiomyopathy and conduction defects v1.54 ACTN2 Rebecca Whittington commented on gene: ACTN2: 11 variants on HGMD assoc with DCM - 5 classed as DM in a number of literature reviews. Note Walsh 2017 classes all variants found in their cohort as VUS. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - note no L pathogenic variants reported.
Dilated Cardiomyopathy and conduction defects v1.54 ACTC1 Rebecca Whittington commented on gene: ACTC1: Reported by Augire et al (2015) PLoS ONE 10(6):e0127903 tracking in six family members with ASD but some DCM also. 12 variants on HGMD - 7 classed as DM in a number of literature reviews including Dal Ferro 2017. In reviews: Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601 - note no L pathogenic variants reported.
Dilated Cardiomyopathy and conduction defects v1.54 ABCC9 Rebecca Whittington commented on gene: ABCC9: 2 variants in 2004 paper (Bienengraeber M Nat Genet. 2004 Apr;36(4):382-7. Epub 2004 Mar 21.). 10 variants on HGMD assoc with DCM - only one from the Bienengraeber paper classed as DM but one nonsense classed as LP in Walsh by LMM group. Included in review of DCM genes -Dalin 2017 International Journal of Cardiology 228 (2017) 742748, Hershberger 2013 Nat Rev Cardiol 10:531 and Pugh (2014) Genet Med 16, 601)
Dilated Cardiomyopathy and conduction defects v1.54 SGCB Rebecca Whittington commented on gene: SGCB: Listed with LGMD and DCM can be rarely associated: https://omim.org/clinicalSynopsis/604286. Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1.
Dilated Cardiomyopathy and conduction defects v1.54 SDHA Rebecca Whittington commented on gene: SDHA: Alston (J Med Genet 2012;49:569577. doi:10.1136/jmedgenet-2012-101146) reported a case of DCM and leukodystrophy in a patient compound heterozygous for variants in this gene. Levitas (2010 European Journal of Human Genetics (2010) 18, 11601165; doi:10.1038/ejhg.2010.83; published online 16 June 2010) This is a more early onset recessive, mitochondrial gene. Homozygosity for a specific variant G555E in dilated cardiomyopathy in specific populations including in 2010 the Bedouin population - 15 cases of paediatric cardiomyopathy - variant p.Gly555Glu has only one allele on GnomAD. This variant was also described in other populations assoc with DCM including Pagnamenta Mol Genet Metab. 2006 Nov;89(3):214-21. Epub 2006 Jun 23 and Van Coster Am J Med Genet A. 2003 Jul 1;120A(1):13-8.
Dilated Cardiomyopathy and conduction defects v1.54 NPPA Rebecca Whittington commented on gene: NPPA: AR disease: Disertori (Circ Cardiovasc Genet. 2013 Feb;6(1):27-36. doi: 10.1161/CIRCGENETICS.112.963520. Epub 2012 Dec 29).ARg150Gln identified in the homozygous state in six individuals in a small region of Italy patients had DCM and atrial standstill.
Dilated Cardiomyopathy and conduction defects v1.54 NKX2-5 Rebecca Whittington commented on gene: NKX2-5: HGMD: Four variants classed as DM and associated with DCM: Hanley 2016 (Hanley et al. BMC Medical Genetics (2016) 17:83): Two families with variants in the same codon I184. Some suggestion of variants tracking with disease, family members have mix of DCM and CHD such as VSD and ASD as well as conduction defects. Appears to have reduced disease penetrance so some evidence but not strong. 1 family tracks with disease in 2 generations but also found in four unaffected family members (reduced penetrance and possibly age of onset); second family variant tracks through 2 generations with four affected family members, but not seen in a family member with VSD and a second family member with VT. Neither variant on GnomAD. Yuan 2015 reports a variant fully penetrant tracking with DCM patients also had AF and AVB. Study of this variant in an insilico study suggests pathogenic: Abdul Samad PLoS One. 2016 May 6;11(5):e0153999. doi: 10.1371/journal.pone.0153999. eCollection 2016. Xu Int Heart J 2017; 58: 521-529: two patients with NKX2-5 vairants who presented with adult onset DCM but also previously had VSD and AVB, both variants were de novo following parental studies.
Dilated Cardiomyopathy and conduction defects v1.54 MPO Rebecca Whittington commented on gene: MPO: No reference to DCM on HGMD or OMIM or as far as I can see in the literature
Dilated Cardiomyopathy and conduction defects v1.54 CAVIN4 Rebecca Whittington commented on gene: CAVIN4: HGMD: 8 variants listed assoc with DCM (6) and ARVC (2). One reference with cardiomyopathy 2018: Szabadosova J Clin Lab Anal. 2018 Feb;32(2) - NGS screens of cardiomyopathy patients. A 2011 paper: Rodriguez (2011) Circ Cardiovasc Genet 4: 349 PubMed: 21642240 describes 6 variants assoc with DCM, 3 LP - 2 segregated with disease and functional studies in rat myocytes supported pathogenicity, however all have some freq including one which segregates with disease has 24 alleles on Gnomad and 1 homozygote .
Dilated Cardiomyopathy and conduction defects v1.54 ACTA1 Rebecca Whittington commented on gene: ACTA1: Very rare cause but can be an additional feature along with myopathy see: Gatayama Pediatrics 2013;131:e1e5 - 1 case study of nemaline myopathy and DCM. Reza 2018 (Circ Genom Precis Med. 2018;11:e002243. DOI: 10.1161/CIRCGEN.118.002243) - large family with a proband, sibling and cousin all affected with DCM and a ACTA1 variant which has no GnomAD freq, there are three obligate carriers of the variant who are affected between these relatives, suggesting high penetrance disease causing variant, adult onset in this family reported. Tadokoro 2018( Journal of the Neurological Sciences 393 (2018) 142144: 1) presented a case series of 7 patients presenting with myopathy: 2 had DCM 5 had HCM, all childhood onset.
Dilated Cardiomyopathy and conduction defects v1.54 SCN1B Rebecca Whittington commented on gene: SCN1B: https://omim.org/entry/600235?search=scn1b&highlight=scn1b. Appears to be associated with conduction defects and AF. Not listed on HGMD with DCM.
Dilated Cardiomyopathy and conduction defects v1.54 PSEN2 Rebecca Whittington commented on gene: PSEN2: DCM very rare. Li 2006 Am J Hum Genet 79:1030.
Dilated Cardiomyopathy and conduction defects v1.54 PSEN1 Rebecca Whittington commented on gene: PSEN1: DCM very rare. Li 2006 Am J Hum Genet 79:1030.
Dilated Cardiomyopathy and conduction defects v1.54 GATAD1 Rebecca Whittington commented on gene: GATAD1: On the Inherited Cardiac Condition Genes panel for Dilated cardiomyopathy reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10._1007/_s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes, and it is unclear from the publication whether this gene falls into the disease-causing category. No. of mutations indicated in supplemental table = 1. HGMD: only one variant - AR disease: Theis (2011) Circ Cardiovasc Genet 4: 585 PubMed: 21965549 Summary: 1 piece of literature with one homozygote variant - two affected individuals and consanguenious family. Functional studies undertaken.
Dilated Cardiomyopathy and conduction defects v1.54 TFR2 Rebecca Whittington commented on gene: TFR2: https://omim.org/clinicalSynopsis/604250. Cardiomyopathy is not a key feature so not a lot in literature - in Gene reviews states that cardiomyopathy is rare (https://www.ncbi.nlm.nih.gov/books/NBK1349/). Onset is younger than HFE - young adults upwards.
Dilated Cardiomyopathy and conduction defects v1.54 SLC40A1 Rebecca Whittington commented on gene: SLC40A1: Associated with AD Haemochromatosis which can be more paediatric to adult onset as shown in OMIM (see this variant SLC40A1, 3-BP DEL, VAL162DEL). Griffiths 2010 (Hepatology. 2010 Mar;51(3):788-95. doi: 10.1002/hep.23377). No Gene reviews and on OMIM does not go into details about how common the cardiac features are.
Dilated Cardiomyopathy and conduction defects v1.54 RAB3GAP2 Rebecca Whittington commented on gene: RAB3GAP2: ?? Cannot find anything relevant in google or gene reviews - one paper in 2017 re severe DCM in the ITPA gene which has features similar to RAB3GAP2 ( Martsolf syndrome and DCM).
Dilated Cardiomyopathy and conduction defects v1.54 PPP1R13L Rebecca Whittington commented on gene: PPP1R13L: Mouse model showed progressive DCM (Herron 2005 Hum Mol Genet. 2005 Mar 1;14(5):667-77). HGMD: 2017 paper: Falik-Zaccai (2017) EMBO Mol Med 9, 319 - reported five Arab Christian infants, aged 430 months from four families, were diagnosed with DCM associated with mild skin, teeth, and hair abnormalities. All passed away before age 3 and were homozygous for the same nonsense variant in this gene. Patients fibroblasts and PPP1R13L-knocked down human fibroblasts presented higher expression levels of pro-inflammatory cytokine genes in response to lipopolysaccharide, as well as Ppp1r13l-knocked down murine cardiomyocytes and hearts of Ppp1r13l-deficient mice.
Dilated Cardiomyopathy and conduction defects v1.54 IDH2 Rebecca Whittington commented on gene: IDH2: A feature can be dilated cardiomyopathy. Nota (J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961) - two paediatric cases where first signs picked up prenatally on ultrasound, one of the two died of cardiac failure age 8 years. Kranendijk J Med Genet. 2013 Nov;50(11):754-9. doi: 10.1136/jmedgenet-2013-101961. - Variant at 140 assoc with this disorder. Note on HGMD only two variants in same nucleotide described. Akbay states cardiomyopathy requiring treatment is frequently observed in type II D2HGA patients (Kranendijk et al. 2010b, 2012). Note: 14 patients described in Kranendijk 2010 - 13 arisen denovo for the same variant Arg140Gln and also reported Arg140Gly in a patient.
Dilated Cardiomyopathy and conduction defects v1.54 HFE2 Rebecca Whittington commented on gene: HFE2: Assoc with haemochromatosis type 2A - this gene on omim is HJV?? early onset - age of onset usually before 30 years a range of features main cause of death is cardiac failure. See gene reviews: https://www.ncbi.nlm.nih.gov/books/NBK1170/. See https://omim.org/entry/608374#0009.
Dilated Cardiomyopathy and conduction defects v1.54 HAMP Rebecca Whittington commented on gene: HAMP: Assoc with haemochromatosis type 2B Blood2018132:101-110;doi: https://doi.org/10.1182/blood-2018-02-830562. - early onset - age of onset usually before 30 years a range of features main cause of death is cardiac failure. See gene reviews: https://www.ncbi.nlm.nih.gov/books/NBK1170/.
Dilated Cardiomyopathy and conduction defects v1.54 EPG5 Rebecca Whittington commented on gene: EPG5: Cullop, Nat Genet. 2013 January ; 45(1): 8387. 13 individuals with AR Vici syndrome which features include: callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation - patients are all paediatric so suggest paediatric panel. Ehmke 2014 - reviewed literature - 24 cases , including their patient who was homozygous for a variant in penultimate exon of the gene (Am J Med Genet A. 2014 Dec;164A(12):3170-5). Byrne 2016 (BRAIN 2016: 139; 765781) again review of literature mentions 50 cases, the consistent features do not include cardiomyopathy but is a frequent feature. Includes a knock down drosophilia model.
Catecholaminergic polymorphic VT v1.12 KCNJ2 Rebecca Whittington commented on gene: KCNJ2: No evidence for this gene assoc with CPVT. PMID:27761157
Catecholaminergic polymorphic VT v1.12 KCNE1 Rebecca Whittington commented on gene: KCNE1: No evidence for this gene assoc with CPVT.
Catecholaminergic polymorphic VT v1.12 ANK2 Rebecca Whittington commented on gene: ANK2: No evidence for this gene assoc with CPVT. PMID:27761157.
Catecholaminergic polymorphic VT v1.12 TRDN Rebecca Whittington commented on gene: TRDN: Literature evidence including functional / family testing. PMID:22422768. PMID: 25922419
Catecholaminergic polymorphic VT v1.12 RYR2 Rebecca Whittington commented on gene: RYR2: Lots of literature evidence for this gene / established gene. PMID: 26018045. PMID:26114861. PMID:19926015.
Catecholaminergic polymorphic VT v1.12 CASQ2 Rebecca Whittington commented on gene: CASQ2: Literature evidence (inc cosegregation, functional). PMID:27157848. PMID:29178653. PMID: 21618644
Catecholaminergic polymorphic VT v1.12 CALM1 Rebecca Whittington commented on gene: CALM1: Literature evidence -see PMID Refs (including functional). PMID: 23040497. PMID:28491771. PMID: 23388215
Catecholaminergic polymorphic VT v1.12 TECRL Rebecca Whittington commented on gene: TECRL: Only one entry linked to one paper for cardiac arrhythmia but showed homozygosity for splice mutation that segregated in the family. Possible overlapping phenotype with LQTS. 3 different families described in the paper (2016): PMID:27861123
Catecholaminergic polymorphic VT v1.12 CALM3 Rebecca Whittington commented on gene: CALM3: Some recent evidence in 2016 as found in patient and mother with CPVT (functional effect on calcium binding) - see ref: PMID:27516456
Catecholaminergic polymorphic VT v1.12 CALM2 Rebecca Whittington commented on gene: CALM2: Literature evidence -see refs. PMID: 24917665. PMID:26969752. PMID: 23388215.
Brugada syndrome and cardiac sodium channel disease v1.37 SCN2B Rebecca Whittington commented on gene: SCN2B: Only a couple of publications - some frequency associated with the variants described. Variant described in the Riuro paper rare strong BI and some functional evidence. But Watanabe variants look less convincing.PMID:19808477. https://www.ncbi.nlm.nih.gov/pubmed/23559163?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 RANGRF Rebecca Whittington commented on gene: RANGRF: Some frequency >1% associated with the variant described in the Olesen paper (21621375). Uncertain role for this gene concluded in Campuzano paper (24142675). Literature suggests that this could be a 'susceptibility' gene. https://www.ncbi.nlm.nih.gov/pubmed/21621375?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/24142675?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/21447824?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 PKP2 Rebecca Whittington commented on gene: PKP2: Gene mainly associated with ARVC. NO strong evidence for Brugada - only 1 publication. PMID:24352520
Brugada syndrome and cardiac sodium channel disease v1.37 KCNJ8 Rebecca Whittington commented on gene: KCNJ8: NO evidence of association with Brugada Syndrome. 23632791. Variant reported here is very frequent on Gnomad especially Ashkenazi Jews
Brugada syndrome and cardiac sodium channel disease v1.37 KCNH2 Rebecca Whittington commented on gene: KCNH2: Overwhelming evidence for LQT. No strong evidence for Brugada. PMID:25626866. https://www.ncbi.nlm.nih.gov/pubmed/24400717. https://www.ncbi.nlm.nih.gov/pubmed/16043162
Brugada syndrome and cardiac sodium channel disease v1.37 KCND3 Rebecca Whittington commented on gene: KCND3: Gene mainly assoc with ataxia /intellectual disability. NO strong evidence in the Giudicessi paper - both variants described do not have strong BI and some frequency on GnomAD. PMID:21349352. PMID:22840528. https://www.ncbi.nlm.nih.gov/pubmed/22284586?dopt=Abstract. https://pdfs.semanticscholar.org/496b/e70141f03f188a0215693739efed9ae36573.pdf.
Brugada syndrome and cardiac sodium channel disease v1.37 CAV3 Rebecca Whittington commented on gene: CAV3: NO evidence for Brugada Syndrome. More assoc with LQT but even that is weak. PMID: 26132555. https://www.ncbi.nlm.nih.gov/pubmed/17060380?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/24021552
Brugada syndrome and cardiac sodium channel disease v1.37 CACNA2D1 Rebecca Whittington commented on gene: CACNA2D1: 3 / 4 variants reported in this gene in the paper have frequency / high frequency on GnomAD and mixed BI. No strong evidence presented in PMID 20817017. PMID:25527503. PMID:21383000.
Brugada syndrome and cardiac sodium channel disease v1.37 CACNA1C Rebecca Whittington commented on gene: CACNA1C: Couple of reports suggesting association with Short QT arrhythmia and Timothy Syndome. One variant which is reported has very high frequency on GnomAD and mixed BI. Another variant has no frequency and mixed BI. (PMID 1722476) Needs Review as not typical Brugada. PMID:20817017. PMID:25184293
Brugada syndrome and cardiac sodium channel disease v1.37 ANK2 Rebecca Whittington commented on gene: ANK2: No strong evidence for Brugada. Phenotype does not seem to be clear in paper. Possible modifier gene. PMID:15178757. https://www.ncbi.nlm.nih.gov/pubmed/17242276?dopt=Abstract
Brugada syndrome and cardiac sodium channel disease v1.37 ABCC9 Rebecca Whittington commented on gene: ABCC9: Cantu gene - Gene assoc with specific features. No clear evidence from Hu paper as associated with Brugada - phenotypes overlapping and patient has SCN5A variant. PMID:24439875
Brugada syndrome and cardiac sodium channel disease v1.37 TRPM4 Rebecca Whittington commented on gene: TRPM4: Literature evidence including prevalence of variants in affected individuals and functional evidence. However appears mainly assoc with heart block /PCCD. PMID:23382873. PMID:29568272. https://www.ncbi.nlm.nih.gov/pubmed/21887725?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/26820365?dopt=Abstract
Brugada syndrome and cardiac sodium channel disease v1.37 SCN5A Rebecca Whittington commented on gene: SCN5A: Lots of literature evidence including prevalence of variants in affected individuals. PMID:20129283. PMID:23805106. PMID:24573164. PMID:22739120
Brugada syndrome and cardiac sodium channel disease v1.37 SCN3B Rebecca Whittington commented on gene: SCN3B: Literature evidence including functional studies. PMID:20558140. https://www.ncbi.nlm.nih.gov/pubmed/21051419?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/21051419?dopt=Abstract
Brugada syndrome and cardiac sodium channel disease v1.37 SCN1B Rebecca Whittington commented on gene: SCN1B: Literature evidence includes cosegregation and functional evidence. PMID:18464934. PMID:25253298. PMID:28878239
Brugada syndrome and cardiac sodium channel disease v1.37 SCN10A Rebecca Whittington commented on gene: SCN10A: Rare. Evidence for association SNP / polygenic contribution Largest study in Hu paper PMID:24998131. PMID:25691538. PMID:25691686. PMID:25053638. https://www.ncbi.nlm.nih.gov/pubmed/28407228?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 KCNE3 Rebecca Whittington commented on gene: KCNE3: Reported in Japanese patient with ?apparent functional effect but also recorded 36x on GnomAD and not strong BI. Also variant in Delpon paper recorder 26 times on GnomAD and mixed reviews. Needs review as no clear association. PMID:19122847. https://www.karger.com/Article/Abstract/113746. https://www.karger.com/Article/Abstract/113746
Brugada syndrome and cardiac sodium channel disease v1.37 HCN4 Rebecca Whittington commented on gene: HCN4: Milano (2014) paper (25145517) showed segregation / ?functional effect. Macri paper (24607718) showed functional effect. PMID: 27553229. https://ac.els-cdn.com/S0735109716015862/1-s2.0-S0735109716015862-main.pdf?_tid=89c56f79-58d9-413a-a162-598c96f24a0b&acdnat=1546869351_0c665867a80ab79d2af032616efe9099
Brugada syndrome and cardiac sodium channel disease v1.37 GPD1L Rebecca Whittington commented on gene: GPD1L: Variant described in the London paper is recorded 36x on GnomAD. Also several asymptomatic patients have the variant. Variant described in the Huang paper describes nonsense variant assoc with SID that segregated in the family but 36 x on GnomAD. Other variants listed on OMIM as pathogenic at very high frequency on gnomAD. Evidence is not strong for monogenic cause. PMID:17967977. PMID:29077258. PMID:17967976
Brugada syndrome and cardiac sodium channel disease v1.37 CACNB2 Rebecca Whittington commented on gene: CACNB2: Not much evidence for this gene. Variant described in Cardeiro paper (19358333) is not convincing. Other variant from Antzelevitch paper (17224476) tracks in family with Brugada, ? Functional evidence and strong BI and no frequency.PMID:22840528
Brugada syndrome and cardiac sodium channel disease v1.37 SLMAP Rebecca Whittington commented on gene: SLMAP: No strong evidence for this gene. Only one report - variant described does not come up on Alamut. The Val269Ile variant is sufficiently rare but not enough information. https://www.ncbi.nlm.nih.gov/pubmed/23064965?dopt=Abstract.
Brugada syndrome and cardiac sodium channel disease v1.37 KCNE5 Rebecca Whittington commented on gene: KCNE5: NO strong evidence for this gene. Only one report - not enough information in report to look at variant in Alamut. PMID:18313602
Brugada syndrome and cardiac sodium channel disease v1.37 DLG1 Rebecca Whittington commented on gene: DLG1: No strong evidence for this gene
Arrhythmogenic right ventricular cardiomyopathy v1.22 TTN Rebecca Whittington commented on gene: TTN: PubMED: 29567486 - core gene. All missense on HGMD. Not for panel.
Arrhythmogenic right ventricular cardiomyopathy v1.22 TGFB3 Rebecca Whittington commented on gene: TGFB3: On HGMDPro assoc mainly with Loeys-Dietz. ARVD1 OMIM: 107970. Beffagna Cardiovascular Research 65 (2005) 366 373: large ARVC family where index is 11 year old. Variant tracked with disease in a number of family members. Very rare cause of ARVC