Mitochondrial disorders
Gene: TUFMComment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in at least four unrelated cases.Created: 25 Apr 2019, 4:03 p.m.
Multiple unrelated individuals with bi-allelic variants in this gene reported in the literature.Created: 1 Sep 2018, 5:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 4, MIM#610678
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Sourced from G2P.Created: 2 Mar 2016, 2:18 p.m.
Comment on list classification: Promoted from red due to expert review, and it is a probable DD gene for COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4.
Created: 2 Mar 2016, 2:17 p.m.
This gene was submitted as "EFTU" in the expert list, which is likely to correspond to this HGNC-approved symbol.Created: 1 Jul 2015, 10:39 a.m.
Gene: tufm has been classified as Green List (High Evidence).
Phenotypes for gene: TUFM were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 4, 610678 to Combined oxidative phosphorylation deficiency 4 610678
Publications for gene: TUFM were set to
Victorian Clinical Genetics Services was added to TUFM. Panel: Mitochondrial disorders
Mode of inheritance for TUFM was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
TUFM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
TUFM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
TUFM was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen