Inborn errors of metabolismGene: 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.
Source NHS GMS was added to TIMM8A. Source London North GLH was added to TIMM8A.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150; Disorders of the mitochondrial import system; Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Deafness, X-linked 1, progressive for gene: TIMM8A Publications for gene TIMM8A were changed from to 27604308
gene: TIMM8A was added gene: TIMM8A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to Mohr-Tranebjaerg syndrome, 304700; Jensen syndrome, 311150; Disorders of the mitochondrial import system; Deafness, X-linked 1, progressive