Likely inborn error of metabolism - targeted testing not possible
Gene: TIMM50
Comment on list classification: Based on reviewer's rating and published evidence.Created: 19 Dec 2018, 12:05 p.m.
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, LiteratureCreated: 19 Dec 2018, 12:05 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type IX 617698
Publications
Three unrelated families reported with bi-allelic variants in this gene.Created: 1 Sep 2018, 4:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type IX, MIM#617698
Publications
Variants in this GENE are reported as part of current diagnostic practice
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)
Sarah Leigh: Associated with phenotype in O
Gene: timm50 has been classified as Amber List (Moderate Evidence).
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