Inborn errors of metabolismGene: TUFM
This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Created: 14 Oct 2019, 1:41 p.m. | Last Modified: 14 Oct 2019, 1:42 p.m.
Panel Version: 1.353
Comment 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
Combined oxidative phosphorylation deficiency 4, MIM#610678
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.
Source Expert Review Green was added to TUFM. Added phenotypes Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM Publications for gene TUFM were changed from 27604308 to 26741492; 17160893; 25735936; 28132884 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source NHS GMS was added to TUFM. Source London North GLH was added to TUFM.
Sarah Leigh: Associated with phenotype in O
Added phenotypes Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 4 610678 for gene: TUFM Publications for gene TUFM were changed from to 27604308
gene: TUFM was added gene: TUFM was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TUFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TUFM were set to Combined oxidative phosphorylation deficiency 4, 610678; Multiple respiratory chain complex deficiencies (disorders of protein synthesis)