Possible mitochondrial disorder - nuclear genes
Gene: TRMT10C
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated families with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 30, 616974
Publications
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 30, 616974
no mutation reports in literatureCreated: 6 Feb 2016, 11:43 p.m.
Comment on list classification: This gene was promoted from Amber to Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter.Created: 10 May 2019, 2:16 p.m.
Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.151) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 4:58 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.
Gene: trmt10c has been classified as Green List (High Evidence).
Gene: trmt10c has been classified as Green List (High Evidence).
Gene: trmt10c has been classified as Amber List (Moderate Evidence).
Publications for gene: TRMT10C were set to
Gene: trmt10c has been classified as Amber List (Moderate Evidence).
gene: TRMT10C was added gene: TRMT10C was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TRMT10C was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT10C were set to Combined oxidative phosphorylation deficiency 30, 616974