Possible mitochondrial disorder - nuclear genes

Gene: MRPS23

I don't know

Updated information and Amber review collated by Carl Fratter May 2019 on behalf of GMS mitochondrial specialist test group: One case with functional studies

Created: 10 May 2019, 1:02 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency, Hepatic disease

Publications

• 26741492

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
Hepatic disease

Publications

• 26741492

Comment on list classification: This gene has been demoted to Amber until further evidence is provided. This gene is currently Red on the Mitochondrial disorders panel (code 112, Version 1.141) - further evidence needs to be submitted to support promoting this gene family member to Green.

Created: 29 Mar 2019, 1:49 p.m.

Comment on list classification: Single case in the literature therefore this should be a red gene - PMID: 26741492 describes the finding of a 500kb region of homozygosity encompassing the MRPS23 gene within a boy with hepatic disease and combined respiratpry chain complex deficiencies. The patient was homozygous for the candidate variant c.119C>G p.P40R (both parents were heterozygous). In vitro complementation assays resuced defects in complexes I and IV, and restored motochondrial 12S rRNA/16S rRNA expression.

Created: 15 Feb 2016, 2:40 p.m.

Green List (high evidence)

single mutation report in literature

Created: 7 Feb 2016, 8:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal