Possible mitochondrial disorder - nuclear genes
Gene: MRPS7
Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One family (2 sibs) and functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 34, 617872
Publications
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 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.Created: 29 Mar 2019, 1:49 p.m.
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 34, 617872
single mutation report in literatureCreated: 4 Feb 2016, 3:21 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Gene: mrps7 has been classified as Amber List (Moderate Evidence).
gene: MRPS7 was added gene: MRPS7 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPS7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS7 were set to ?Combined oxidative phosphorylation deficiency 34, 617872