Undiagnosed metabolic disordersGene: MRPL3
Comment on list classification: This gene was rated 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: 19 Aug 2019, 11:37 a.m. | Last Modified: 19 Aug 2019, 11:37 a.m.
Panel Version: 1.197
Comment on phenotypes: Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Created: 19 Aug 2019, 11:20 a.m. | Last Modified: 19 Aug 2019, 11:20 a.m.
Panel Version: 1.195
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 panel
Created: 23 Feb 2017, 5:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Combined oxidative phosphorylation deficiency 9, 614582
Gene: mrpl3 has been classified as Green List (High Evidence).
Publications for gene: MRPL3 were set to 27604308
Phenotypes for gene: MRPL3 were changed from Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Combined oxidative phosphorylation deficiency 9, 614582 to Combined oxidative phosphorylation deficiency 9, 614582
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
MRPL3 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber MRPL3 was added to Undiagnosed metabolic disorderspanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene MRPL3 was set to BIALLELIC, autosomal or pseudoautosomal
MRPL3 was created by sleigh
MRPL3 was added to Undiagnosed metabolic disorderspanel. Sources: Literature