Mitochondrial disorders
Gene: MRPS2Comment 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 cases with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).Created: 23 May 2019, 2:11 p.m.
no mutation reports in literature;
good candidate gene - encodes protein component of mitochondrial small ribosomal subunitCreated: 4 Feb 2016, 6:28 p.m.
Phenotypes for gene: MRPS2 were changed from No OMIM phenotype to Combined oxidative phosphorylation deficiency 36 617950
Publications for gene: MRPS2 were set to
Mode of inheritance for gene: MRPS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: mrps2 has been classified as Green List (High Evidence).
Source NHS GMS was added to MRPS2. Source Expert Review Green was added to MRPS2. Rating Changed from Red List (low evidence) to Green List (high evidence)
MRPS2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen