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Possible mitochondrial disorder - nuclear genes

Gene: MRPS22

Green List (high evidence)

MRPS22 (mitochondrial ribosomal protein S22)
EnsemblGeneIds (GRCh38): ENSG00000175110
EnsemblGeneIds (GRCh37): ENSG00000175110
OMIM: 605810, Gene2Phenotype
MRPS22 is in 9 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 5, 611719

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Combined oxidative phosphorylation deficiency 5, 611719
OMIM
605810
Clinvar variants
Variants in MRPS22
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: MRPS22 was added gene: MRPS22 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MRPS22 were set to Combined oxidative phosphorylation deficiency 5, 611719