This Panel is marked as Internal
Dystonia - childhood onset
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Wilson disease 277900
- Dystonia
- 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
- Likely inborn error of metabolism
- Wilson disease
- Rare genetic inflammatory skin disorders
- Structural basal ganglia disorders
- Cholestasis
- Adult onset neurodegenerative disorder
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Paroxysmal central nervous system disorders
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Early onset dystonia
- Intellectual disability
- Adult onset dystonia, chorea or related movement disorder
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1
19 Dec 2018, Gel status: 4
Added Tag
Eleanor Williams (Genomics England Curator)Tag treatable tag was added to gene: ATP7B.
19 Dec 2018, Gel status: 4
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 Dystonia - childhood onset. Sources: 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; Dystonia