ATP7B

ATPase copper transporting beta
OMIM: 606882
PanelMode of inheritanceDetails
6 panels
R-numbers: R56
Signed-off version 1.121
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease OMIM:277900, Wilson disease MONDO:0010200
R-numbers: R57
Signed-off version 1.137
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease 277900, Dystonia
R-numbers: R54
Signed-off version 2.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease 277900, Wilson disease, 277900
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease
R-numbers: R96
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
277900 WILSON DISEASE
R-numbers: R58
Signed-off version 2.178
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, OMIM: 277900, Dystonia