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| Mitochondrial disorders v1.424 | AK2 |
Sarah Leigh changed review comment from: Reticular dysgenesis 267500 can be classified as a mitochondriopathy according to PMID 19043417. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported.; to: Reticular dysgenesis 267500 can be classified as a mitochondriopathy according to PMID 19043417. Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 13 variants reported. However, the phenotype (reticular dysgenesis) is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow). |
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| Mitochondrial disorders v1.424 | AK2 | Sarah Leigh Phenotypes for gene: AK2 were changed from to Reticular dysgenesis 267500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.424 | AK2 | Sarah Leigh Publications for gene: AK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | AK2 | Sarah Leigh reviewed gene: AK2: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 19043417; Phenotypes: Reticular dysgenesis 267500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | AK2 |
Sarah Leigh gene: AK2 was added gene: AK2 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: AK2 was set to |
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