1. Panels
  2. Molecular autopsy
  3. TIMM50
Genes in panel
Prev Next
STRs in panel
Prev Next

Molecular autopsy

Gene: TIMM50

Amber List (moderate evidence)
TIMM50 (translocase of inner mitochondrial membrane 50)
EnsemblGeneIds (GRCh38): ENSG00000105197
EnsemblGeneIds (GRCh37): ENSG00000105197
OMIM: 607381, Gene2Phenotype
TIMM50 is in 6 panels

0 reviews

Details

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

History Filter Activity

20 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes 3-methylglutaconic aciduria, type IX 617698 for gene: TIMM50

20 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes 3-methylglutaconic aciduria, type IX 617698 for gene: TIMM50

20 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: TIMM50 was added gene: TIMM50 was added to Molecular autopsy. Sources: Expert Review Amber 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