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| Mitochondrial disorders v4.127 | ATP5E | Sarah Leigh edited their review of gene: ATP5E: Added comment: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for ATP5E (new gene name: ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710. Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant.; Changed rating: GREEN; Changed publications to: 27604308, 34954817, 20566710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.109 | ATP5F1 | Arina Puzriakova commented on gene: ATP5F1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.108 | ATP5F1 |
Arina Puzriakova Source Expert Review Red was added to ATP5F1. Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Mitochondrial disorders v2.5 | ATP5F1 | Zornitza Stark reviewed gene: ATP5F1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATP5F1 | Louise Daugherty commented on gene: ATP5F1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v2.3 | ATP5F1 | Louise Daugherty Tag new-gene-name tag was added to gene: ATP5F1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.412 | ATP5F1 | Sarah Leigh reviewed gene: ATP5F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.411 | ATP5F1 |
Sarah Leigh gene: ATP5F1 was added gene: ATP5F1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ATP5F1 was set to Unknown Phenotypes for gene: ATP5F1 were set to No OMIM phenotype |
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