Mitochondrial disorders
Gene: TIMM50As a result of watchlist tag audit the watchlist tag was removed from TIMM50- this is now a green gene with sufficient evidence/reviewCreated: 13 Jan 2020, 4:38 p.m. | Last Modified: 13 Jan 2020, 4:38 p.m.
Panel Version: 2.3
Comment on list classification: Based on the review of Zornitza Stark (Australian Genomics) regarding the level of evidence.Created: 25 Apr 2019, 2:50 p.m.
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
Tag watchlist was removed from gene: TIMM50.
Gene: timm50 has been classified as Green List (High Evidence).
Gene: timm50 has been classified as Amber List (Moderate Evidence).
Tag watchlist tag was added to gene: TIMM50.
Gene: timm50 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: TIMM50 were changed from 3-methylglutaconic aciduria, type IX, MIM#617698 to 3-methylglutaconic aciduria, type IX 617698
TIMM50 was added to Mitochondrial disorders panel. Sources: Expert list
TIMM50 was created by Zornitza Stark