ATP7B

ATPase copper transporting beta
OMIM: 606882
PanelMode of inheritanceDetails
8 panels
R-numbers: R56
Signed-off version 3.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease OMIM:277900, Wilson disease MONDO:0010200
R-numbers: R58
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, OMIM: 277900, Dystonia
R-numbers: R57
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease 277900, Dystonia
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, 277900
R-numbers: R54
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease 277900, Wilson disease, 277900
R-numbers: R96
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
277900 WILSON DISEASE
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease
R-numbers: R172
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes