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| Mitochondrial disease v0.971 | TIMM29 | Zornitza Stark Marked gene: TIMM29 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.971 | TIMM29 | Zornitza Stark Gene: timm29 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.971 | TIMM29 |
Zornitza Stark gene: TIMM29 was added gene: TIMM29 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: TIMM29 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIMM29 were set to 40022150 Phenotypes for gene: TIMM29 were set to Sengers syndrome MONDO:0008922, TIMM29-related Review for gene: TIMM29 was set to RED Added comment: One large Arab family presenting with a range of clinical and biochemical phenotypes suggestive of Sengers Syndrome. Biallelic p.Trp172Arg was identified that segregated through the family - this variant is absent from gnomADv4.1 Knockdown drosophillia assay recapitulated the phenotype and pathology observed in the cohort of senger syndrome affected patients. Sources: Literature |
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