Mitochondrial disorders
Gene: TIMM8A
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.
Victorian Clinical Genetics Services was added to TIMM8A. Panel: Mitochondrial disorders
This gene has been classified as Green List (High Evidence).
Phenotypes for TIMM8A were set to Disorders of the mitochondrial import system; Deafness, X-linked 1, progressive; Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150
Phenotypes for TIMM8A were set to Disorders of the mitochondrial import system; Deafness, X-linked 1, progressive; Mohr-Tranebjaerg syndrome, 304700Jensen syndrome, 311150
Mode of inheritance for TIMM8A was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
This gene has been classified as Green List (High Evidence).
TIMM8A was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
TIMM8A was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
TIMM8A was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen