Parkinson Disease and Complex Parkinsonism
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
Zornitza Stark (Australian Genomics)
Parkinsonism is a prominent neurological feature of Wilson disease.
Sources: Expert listCreated: 25 Aug 2020, 9:49 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease MIM#277900
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Wilson disease MIM#277900
- 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
- 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
- Intellectual disability
- 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
25 Aug 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: ATP7B was added gene: ATP7B was added to Parkinson Disease and Complex Parkinsonism. Sources: Expert list Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP7B were set to 17435591 Phenotypes for gene: ATP7B were set to Wilson disease MIM#277900 Review for gene: ATP7B was set to GREEN gene: ATP7B was marked as current diagnostic