Mitochondrial disorders
Gene: TIMM8A

TIMM8A (translocase of inner mitochondrial membrane 8A)
EnsemblGeneIds (GRCh38): ENSG00000126953
EnsemblGeneIds (GRCh37): ENSG00000126953
OMIM: 300356, Gene2Phenotype
TIMM8A is in 16 panels

2 reviews

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: 0.37

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Hemizygous indicated for both disorders in G2P. XLR indicated for Mohr-Tranebjaerg syndrome, and XL for Jensen syndrome.
Created: 2 Mar 2016, 2:11 p.m.

Comment on list classification: Promoted from red to green due to expert review, and it is a "Both DD and IF" gene on G2P for both MOHR-TRANEBJAERG SYNDROME and JENSEN SYNDROME.

Created: 2 Mar 2016, 2:09 p.m.

This gene was submitted as "DDP" in the expert list, which is likely to correspond to this HGNC-approved symbol.
Created: 1 Jul 2015, 10:43 a.m.

Created: 1 Jul 2015, 10:43 a.m.

Panel version: 0

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list
Expert

Phenotypes

Disorders of the mitochondrial import system
Deafness, X-linked 1, progressive
Mohr-Tranebjaerg syndrome, 304700
Jensen syndrome, 311150

OMIM

300356

Clinvar variants

Variants in TIMM8A

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to TIMM8A. Panel: Mitochondrial disorders

2 Mar 2016, Gel status: 4