Mitochondrial disorders
Gene: MRPS22

MRPS22 (mitochondrial ribosomal protein S22)
EnsemblGeneIds (GRCh38): ENSG00000175110
EnsemblGeneIds (GRCh37): ENSG00000175110
OMIM: 605810, Gene2Phenotype
MRPS22 is in 8 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on G2P and OMIM.
Created: 2 Mar 2016, 12:56 p.m.

Comment on list classification: Promoted from red to green due to expert review, and it is a probable DD gene for combined oxidative phosphorylation deficiency 5.
Created: 2 Mar 2016, 12:56 p.m.

Created: 2 Mar 2016, 12:56 p.m.

Panel version: 0.444

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:31 a.m.

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Radboud University Medical Center, Nijmegen
Expert list
Expert

Phenotypes

Multiple respiratory chain complex deficiencies (disorders of protein synthesis)
Combined oxidative phosphorylation deficiency 5, 611719

OMIM

605810

Clinvar variants

Variants in MRPS22

Penetrance

Complete

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to MRPS22. Panel: Mitochondrial disorders

2 Mar 2016, Gel status: 4