Genomics England
GMS Panels
Panels
Genes and Entities

ATP7B

ATPase copper transporting beta
OMIM: 606882
PanelMode of inheritanceDetails
8 panels
Green
in Adult onset dystonia, chorea or related movement disorder
R-numbers: R56
Signed-off version 3.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease OMIM:277900, Wilson disease MONDO:0010200
Green
in Adult onset neurodegenerative disorder
R-numbers: R58
Signed-off version 4.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, OMIM: 277900, Dystonia
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 3.0
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
Green
in Hereditary ataxia with onset in adulthood
R-numbers: R54
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease 277900, Wilson disease, 277900
Green
in Iron metabolism disorders - NOT common HFE mutations
R-numbers: R96
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
277900 WILSON DISEASE
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease
Green
in Wilson disease
R-numbers: R172
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes