Mitochondrial disorders
Gene: TRMT5Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in at least three cases, together with supportive functional studies.Created: 25 Apr 2019, 3:56 p.m.
Additional recent publication.Created: 1 Sep 2018, 4:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 26, MIM#616539
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Two unrelated cases, and rescue studies in yeast, therefore this should be moved to the red list - more evidence is required for this to be a diagnostic-grade gene.Created: 15 Feb 2016, 5:41 p.m.
single mutation report in literature (two unrelated probands)Created: 7 Feb 2016, 9:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: trmt5 has been classified as Green List (High Evidence).
Phenotypes for gene: TRMT5 were changed from Multiple Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 26 616539
Publications for gene: TRMT5 were set to PMID: 26189817
Victorian Clinical Genetics Services was added to TRMT5. Panel: Mitochondrial disorders
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
TRMT5 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list
TRMT5 was created by [email protected]