Mitochondrial disease
Gene: ATP5BEnsemblGeneIds (GRCh38): ENSG00000110955
EnsemblGeneIds (GRCh37): ENSG00000110955
OMIM: 102910, Gene2Phenotype
ATP5B is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
PMID 36860166: Two families, clinical presentation with dystonia; incomplete penetrance observed. Some functional data.
ATP5F1B is a subunit of the mitochondrial ATP synthase or complex V of the mitochondrial respiratory chain.
Note also PMID 36239646 reporting de novo variant in identical twins with hypermetabolism.
Sources: LiteratureCreated: 9 Mar 2023, 9:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Inherited dystonia, MONDO:0044807, ATP5B-related
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Inherited dystonia, MONDO:0044807, ATP5B-related
- OMIM
- 102910
- Clinvar variants
- Variants in ATP5B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp5b has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: atp5b has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ATP5B was added gene: ATP5B was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: ATP5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP5B were set to 36860166; 36239646 Phenotypes for gene: ATP5B were set to Inherited dystonia, MONDO:0044807, ATP5B-related Review for gene: ATP5B was set to AMBER