Possible mitochondrial disorder - nuclear genes
Gene: TRMT5
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 26, 616539
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 was added gene: TRMT5 was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TRMT5 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT5 were set to Combined oxidative phosphorylation deficiency 26, 616539