Hereditary ataxia with onset in adulthood
Gene: ATP7BEnsemblGeneIds (GRCh38): ENSG00000123191
EnsemblGeneIds (GRCh37): ENSG00000123191
OMIM: 606882, Gene2Phenotype
ATP7B is in 17 panels
3 reviews
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
In Sheffield panel. Tremors are a feature of Wilsons disease. 837 DM in HGMDCreated: 27 Apr 2019, 7:39 p.m.
Louise Daugherty (Genomics England Curator)
Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group
Created: 27 Apr 2019, 8:55 p.m.
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Well describedCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease, 277900
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Wessex and West Midlands GLH
- Expert Review Green
- Brain channelopathy v1.46
- Phenotypes
-
- Wilson disease 277900
- Wilson disease, 277900
- Tags
- OMIM
- 606882
- Clinvar variants
- Variants in ATP7B
- Penetrance
- None
- Publications
- 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
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GMS was added to ATP7B.
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Wilson disease, 277900 for gene: ATP7B
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ATP7B.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to ATP7B.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked panel against panel constituents. Ready to promote to version 1.
Added Tag
Eleanor Williams (Genomics England Curator)Tag treatable tag was added to gene: ATP7B.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: ATP7B was added gene: ATP7B was added to Hereditary ataxia - adult onset. Sources: Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 20301685 Phenotypes for gene: ATP7B were set to Wilson disease 277900