Mitochondrial disorders
Gene: MRPS23
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
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
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.
single mutation report in literatureCreated: 7 Feb 2016, 8:37 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS23 were set to PMID: 26741492
Victorian Clinical Genetics Services was added to MRPS23. Panel: Mitochondrial disorders
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
MRPS23 was created by [email protected]
MRPS23 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list