Likely inborn error of metabolism
Gene: MRPS2

MRPS2 (mitochondrial ribosomal protein S2)
EnsemblGeneIds (GRCh38): ENSG00000122140
EnsemblGeneIds (GRCh37): ENSG00000122140
OMIM: 611971, Gene2Phenotype
MRPS2 is in 4 panels

2 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 cases with functional studies.
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Created: 23 May 2019, 2:11 p.m.

Created: 23 May 2019, 2:11 p.m.

Panel version: Imported from Mitochondrial disorders panel version 1.322

Shamima Rahman (UCL Institute of Child Health)

I don't know

no mutation reports in literature;

good candidate gene - encodes protein component of mitochondrial small ribosomal subunit
Created: 4 Feb 2016, 6:28 p.m.

Created: 4 Feb 2016, 6:28 p.m.

Panel version: Imported from Mitochondrial disorders panel version 0.16

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
NHS GMS

Phenotypes

Combined oxidative phosphorylation deficiency 36 617950
No OMIM phenotype

OMIM

611971

Clinvar variants

Variants in MRPS2

Penetrance

None

Publications

29576219

Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to MRPS2. Mode of inheritance for gene MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Combined oxidative phosphorylation deficiency 36 617950 for gene: MRPS2 Publications for gene MRPS2 were changed from to 29576219 Rating Changed from Red List (low evidence) to Green List (high evidence)

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes