Mitochondrial disorders
Gene: MRPL3EnsemblGeneIds (GRCh38): ENSG00000114686
EnsemblGeneIds (GRCh37): ENSG00000114686
OMIM: 607118, Gene2Phenotype
MRPL3 is in 6 panels
4 reviews
Sarah Leigh (Genomics England Curator)
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.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from Red to Amber due to two family reports.Created: 29 Mar 2019, 1:31 p.m.
Zornitza Stark (Australian Genomics)
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
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 9, 614582
- OMIM
- 607118
- Clinvar variants
- Variants in MRPL3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: mrpl3 has been classified as Green List (High Evidence).
Added New Source, Added New Source, Status Update
Sarah Leigh (Genomics England Curator)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)
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: mrpl3 has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: MRPL3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: MRPL3 were set to
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to MRPL3. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)MRPL3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)MRPL3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)MRPL3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen