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| 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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| Mitochondrial disease v0.844 | ATP5F1 | Zornitza Stark Marked gene: ATP5F1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.844 | ATP5F1 | Zornitza Stark Gene: atp5f1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.844 | ATP5F1 |
Zornitza Stark gene: ATP5F1 was added gene: ATP5F1 was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: ATP5F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ATP5F1 were set to 36239646 Phenotypes for gene: ATP5F1 were set to Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085 Review for gene: ATP5F1 was set to RED Added comment: Identical twins reported with a de novo missense variant in this gene and hyper metabolism: normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrated increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect Sources: Expert list |
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| Mitochondrial disease v0.445 | ATP5E | Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name ATP5F1E. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.442 | ATP5A1 | Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: ATP5F1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||