Mitochondrial disorders
Gene: MRPL3Comment 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 (4 sibs + 1 unrelated case) and functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).Created: 23 May 2019, 1:56 p.m.
Comment on list classification: Promoted from Red to Amber due to two family reports.Created: 29 Mar 2019, 1:31 p.m.
Two unrelated families reported in the literature to date. Merits Amber.Created: 30 Aug 2018, 8:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 9, MIM#614582
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: MRPL3 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 9, 614582 to Combined oxidative phosphorylation deficiency 9, 614582
Gene: mrpl3 has been classified as Green List (High Evidence).
Source NHS GMS was added to MRPL3. Source Expert Review Green was added to MRPL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: MRPL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL3 were set to
Victorian Clinical Genetics Services was added to MRPL3. Panel: Mitochondrial disorders
MRPL3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
MRPL3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
MRPL3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen