| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.859 | ATP5B | Zornitza Stark Marked gene: ATP5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.859 | ATP5B | Zornitza Stark Gene: atp5b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.859 | ATP5B | Zornitza Stark Classified gene: ATP5B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.859 | ATP5B | Zornitza Stark Gene: atp5b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.858 | ATP5B |
Zornitza Stark 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 Added comment: 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: Literature |
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