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| Likely inborn error of metabolism - targeted testing not possible v4.12 | GFM2 | Arina Puzriakova Phenotypes for gene: GFM2 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Early-onset neurological presentations of mitochondrial disease to Combined oxidative phosphorylation deficiency 39, OMIM:618397 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.76 | GFM2 |
Sarah Leigh Source Expert Review Green was added to GFM2. Mode of inheritance for gene GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Early-onset neurological presentations of mitochondrial disease for gene: GFM2 Publications for gene GFM2 were changed from to 22700954; 26016410; 29075935 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism - targeted testing not possible v0.4 | GFM2 |
Ellen McDonagh gene: GFM2 was added gene: GFM2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: GFM2 was set to Unknown Phenotypes for gene: GFM2 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
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