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Possible mitochondrial disorder - nuclear genes

Gene: TIMM50

Green List (high evidence)

TIMM50 (translocase of inner mitochondrial membrane 50)
EnsemblGeneIds (GRCh38): ENSG00000105197
EnsemblGeneIds (GRCh37): ENSG00000105197
OMIM: 607381, Gene2Phenotype
TIMM50 is in 7 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Sarah Leigh (Genomics England Curator)

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.

Zornitza Stark (Australian Genomics)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type IX, 617698
OMIM
607381
Clinvar variants
Variants in TIMM50
Penetrance
None
Panels with this gene

History Filter Activity

11 Feb 2021, Gel status: 3

Clear Sources

Arina Puzriakova (Genomics England Curator)

Source: Expert Review Amber was removed from gene: TIMM50

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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