Possible mitochondrial disorder - nuclear genes
Gene: MRPS2
Updated information and Green review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: 2 unrelated cases with functional studiesCreated: 10 May 2019, 1:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 36, 617950
Publications
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, 1:53 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 1.141) - 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 36, 617950
Publications
no mutation reports in literature;
good candidate gene - encodes protein component of mitochondrial small ribosomal subunitCreated: 4 Feb 2016, 6:28 p.m.
Gene: mrps2 has been classified as Green List (High Evidence).
Gene: mrps2 has been classified as Green List (High Evidence).
Gene: mrps2 has been classified as Amber List (Moderate Evidence).
gene: MRPS2 was added gene: MRPS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS2 were set to 29576219 Phenotypes for gene: MRPS2 were set to Combined oxidative phosphorylation deficiency 36, 617950