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Inborn errors of metabolism

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 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

I don't know

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, Literature
Created: 19 Dec 2018, 12:05 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria, type IX 617698

Publications

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
  • Expert Review Green
  • Literature
  • Expert Review
Phenotypes
  • 3-methylglutaconic aciduria, type IX 617698
OMIM
607381
Clinvar variants
Variants in TIMM50
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Sarah Leigh (Genomics England Curator)

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)

8 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

19 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: timm50 has been classified as Amber List (Moderate Evidence).

19 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

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