Genomics England

ATP7B

ATPase copper transporting beta

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.19	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 5.4	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 4.3	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 5.3	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 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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Wilson disease
Green in Wilson disease R-numbers: R172 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes