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Wilson disease
Gene: ATP7B
ATP7B (ATPase copper transporting beta)
EnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 17 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #277900) and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 2:25 p.m. | Last Modified: 29 Dec 2025, 2:25 p.m.
Panel Version: 1.2
ATP7B has been added to the panel for R172 Wilson disease with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 5:07 p.m. | Last Modified: 30 Jun 2023, 5:07 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Wilson disease, OMIM:277900
- Wilson disease, MONDO:0010200
- OMIM
- 606882
- Clinvar variants
- Variants in ATP7B
- Penetrance
- None
- Panels with this gene
-
- Iron metabolism disorders - NOT common HFE mutations
- Brain channelopathy
- Neonatal cholestasis
- Paroxysmal central nervous system disorders
- Undiagnosed metabolic disorders
- Wilson disease
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Cholestasis
- Rare genetic inflammatory skin disorders
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ATP7B were changed from to Wilson disease, OMIM:277900; Wilson disease, MONDO:0010200
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: ATP7B was added gene: ATP7B was added to Wilson disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal