Brain channelopathy
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
Arianna Tucci (Genomics England Curator)
The neurologic presentation of Wilson disease can include movement disorderCreated: 23 Jan 2017, 2:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wilson disease 277900
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Wilson disease 277900
- Tags
- OMIM
- 606882
- Clinvar variants
- Variants in ATP7B
- Penetrance
- Complete
- 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
21 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Feb 2017, Gel status: 4
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Green List (High Evidence).
21 Feb 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
23 Jan 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1. January 23 2017
23 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
23 Jan 2017, Gel status: 0
Added New Source
Arianna Tucci (Genomics England Curator)ATP7B was added to Brain channelopathypanel. Sources: Expert Review
23 Jan 2017, Gel status: 0
Created
Arianna Tucci (Genomics England Curator)ATP7B was created by arianna