Activity
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| Likely inborn error of metabolism v1.76 | TIMM50 |
Sarah Leigh Source Expert Review Green was added to TIMM50. Added phenotypes 3-methylglutaconic aciduria, type IX 617698 for gene: TIMM50 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Likely inborn error of metabolism v0.19 | TIMM50 | Sarah Leigh Classified gene: TIMM50 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.19 | TIMM50 | Sarah Leigh Added comment: Comment on list classification: Based on reviewer's rating and published evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.19 | TIMM50 | Sarah Leigh Gene: timm50 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism v0.18 | TIMM50 |
Sarah Leigh gene: TIMM50 was added gene: TIMM50 was added to Inborn errors of metabolism. Sources: Expert Review,Literature Mode of inheritance for gene: TIMM50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIMM50 were set to 27573165 Phenotypes for gene: TIMM50 were set to 3-methylglutaconic aciduria, type IX 617698 Review for gene: TIMM50 was set to AMBER Added comment: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified in 2 unrelated cases in peer reviewed literature. An additional biallelic variant has been reported in a case with intractable epilepsy and developmental delay accompanied by 3-methylglutaconic aciduria a meeting abstract. (Three unrelated families reported with bi-allelic variants in this gene. Zornitza Stark (Australian Genomics), 1 Sep 2018) Sources: Expert Review, Literature |
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