Mitochondrial disorders

Gene: TIMM50

As a result of watchlist tag audit the watchlist tag was removed from TIMM50- this is now a green gene with sufficient evidence/review

Created: 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.

Green List (high evidence)

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

• 27573165

Variants in this GENE are reported as part of current diagnostic practice