Genomics England
GMS Panels
Panels
Genes and Entities

ATP7B

ATPase copper transporting beta
OMIM: 606882
PanelMode of inheritanceDetails
7 panels
Green
in Adult onset movement disorder
R-numbers: R56
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease OMIM:277900, Wilson disease MONDO:0010200
Green
in Childhood onset dystonia or chorea or related movement disorder
R-numbers: R57
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease 277900, Dystonia
Green
in Cholestasis
R-numbers: R171
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, 277900
Green
in Hereditary ataxia - adult onset
R-numbers: R54
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease 277900, Wilson disease, 277900
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease
Green
in Iron metabolism disorders
R-numbers: R96
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
277900 WILSON DISEASE
Green
in Neurodegenerative disorders - adult onset
R-numbers: R58
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, OMIM: 277900, Dystonia