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| Mendeliome v1.873 | ATP5O | Zornitza Stark Phenotypes for gene: ATP5O were changed from mitochondrial disease, ATP5F1E-related MONDO:0044970 to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.462 | ATP5F1 | Zornitza Stark Marked gene: ATP5F1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.462 | ATP5F1 | Zornitza Stark Gene: atp5f1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.462 | ATP5F1 |
Zornitza Stark gene: ATP5F1 was added gene: ATP5F1 was added to Mendeliome. 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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| Mendeliome v0.10844 | ATP5O |
Ain Roesley gene: ATP5O was added gene: ATP5O was added to Mendeliome. Sources: Literature Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP5O were set to 34954817 Phenotypes for gene: ATP5O were set to mitochondrial disease, ATP5F1E-related MONDO:0044970 Penetrance for gene: ATP5O were set to Complete Review for gene: ATP5O was set to RED gene: ATP5O was marked as current diagnostic Added comment: Now known as ATP5PO (HGNC) 1 compound het individual with dev delay, muscular hypotonia, ID, dystonia, seizures and neurologic regression Sources: Literature |
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| Mendeliome v0.2693 | ATP5A1 | Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: ATP5F1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||