Mitochondrial disorders
Gene: MRPS16EnsemblGeneIds (GRCh38): ENSG00000182180
EnsemblGeneIds (GRCh37): ENSG00000182180
OMIM: 609204, Gene2Phenotype
MRPS16 is in 7 panels
3 reviews
Zornitza Stark (Australian Genomics)
Please note this additional perinatal lethal case reported in the literature as part of a big series. May be merits Amber.Created: 30 Aug 2018, 8:22 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 2, MIM#610498
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Additional case reported - promoted from Red to Amber.Created: 29 Mar 2019, 1:46 p.m.
One case report in OMIM.Created: 16 Aug 2016, 11:46 a.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
- Combined oxidative phosphorylation deficiency 2, 610498
- OMIM
- 609204
- Clinvar variants
- Variants in MRPS16
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Ellen McDonagh (Genomics England Curator)Publications for gene: MRPS16 were set to
Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for gene: MRPS16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: mrps16 has been classified as Amber List (Moderate Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to MRPS16. Panel: Mitochondrial disorders
Added New Source
Ellen McDonagh (Genomics England Curator)MRPS16 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)MRPS16 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)MRPS16 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen