Mitochondrial disorders

Gene: MRPS23

Red List (low evidence)

Of four publications reported by Zornitza Stark, three of themrep[ort cases of disorder caused by MRPS22 variants rather than MRPS23 variants. As already reviewed by Ellen McDonagh, there is one case reported in PMID:26741492. Hence, the rating should remain red.

Created: 11 Aug 2023, 8:50 a.m. | Last Modified: 11 Aug 2023, 8:50 a.m.

Panel Version: 4.71

Green List (high evidence)

Four families reported.

Created: 12 Apr 2020, 8:09 a.m. | Last Modified: 12 Apr 2020, 8:09 a.m.

Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities

Publications

• 26741492
• 17873122
• 25663021
• 28752220

No further cases have been found for this gene; therefore, this gene will remain a red gene until further evidence is available.

Created: 2 May 2019, 12:34 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