Mitochondrial disorders
Gene: TRMT10CComment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: 2 unrelated families with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).Created: 23 May 2019, 3:40 p.m.
no mutation reports in literatureCreated: 6 Feb 2016, 11:43 p.m.
This gene was submitted as "MRPP1" in the expert list, which is likely to correspond to this HGNC-approved symbol.Created: 1 Jul 2015, 10:40 a.m.
Phenotypes for gene: TRMT10C were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 30, 616974
Mode of inheritance for gene: TRMT10C was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: trmt10c has been classified as Green List (High Evidence).
Publications for gene: TRMT10C were set to
Source NHS GMS was added to TRMT10C. Source Expert Review Green was added to TRMT10C. Rating Changed from Red List (low evidence) to Green List (high evidence)
Victorian Clinical Genetics Services was added to TRMT10C. Panel: Mitochondrial disorders
TRMT10C was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list