Genomics England
GMS Panels
Panels
Genes and Entities

ATP7B

ATPase copper transporting beta
OMIM: 606882
PanelMode of inheritanceDetails
8 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 4.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, 277900
Green
in Dystonia, chorea or related movement disorder, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease OMIM:277900, Wilson disease MONDO:0010200
Green
in Dystonia, chorea or related movement disorder, childhood onset
R-numbers: R57
Signed-off version 8.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease 277900, Dystonia
Green
in Hereditary ataxia, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
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 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
277900 WILSON DISEASE
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 9.29
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease
Green
in Neurodegenerative disorders, adult onset
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 9.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, OMIM: 277900, Dystonia
Green
in Wilson disease
R-numbers: R172
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, OMIM:277900, Wilson disease, MONDO:0010200