Possible mitochondrial disorder - nuclear genes
Gene: TIMM50
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type IX, 617698
Comment when marking as ready: 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.Created: 18 Dec 2018, 1:43 p.m.
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 Amber was removed from gene: TIMM50
gene: TIMM50 was added gene: TIMM50 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TIMM50 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TIMM50 were set to 3-methylglutaconic aciduria, type IX, 617698