Likely inborn error of metabolism - targeted testing not possible
Gene: MRPL3Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))Created: 19 Aug 2019, 11:21 a.m. | Last Modified: 19 Aug 2019, 11:21 a.m.
Panel Version: 1.185
Comment 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
relevant phenotype oxidative phosphorylation deficiency. 1 affected (4 family members) PMID 21786366, 1 affected (paper not listed in OMIM yet. Only 2 unrelated cases reported to date and only 2 variants have been repotted in the MRPL3 gene : heterozygous variant NM_007208 c.950>G (Pro317Arg) and a novel heterozygous variant NM_007208 c.49delC p.(Arg17Aspfs*57). To date Unable to find more cases or relevant animal model. On Radboud MITOCHONDRIAL DISORDERS panelCreated: 23 Feb 2017, 5:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 9, 614582
Publications
Phenotypes for gene: MRPL3 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 9, 614582 to Combined oxidative phosphorylation deficiency 9 614582
Source Expert Review Green was added to MRPL3. Added phenotypes Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3 Publications for gene MRPL3 were changed from 27604308 to 27815843; 21786366 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source NHS GMS was added to MRPL3. Source London North GLH was added to MRPL3.
Sarah Leigh: Associated with relevant pheno
Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 9, 614582 for gene: MRPL3
gene: MRPL3 was added gene: MRPL3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: MRPL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPL3 were set to 27604308 Phenotypes for gene: MRPL3 were set to Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 9, 614582