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Inborn errors of metabolism

Gene: MRPS23

Red List (low evidence)

MRPS23 (mitochondrial ribosomal protein S23)
EnsemblGeneIds (GRCh38): ENSG00000181610
EnsemblGeneIds (GRCh37): ENSG00000181610
OMIM: 611985, Gene2Phenotype
MRPS23 is in 3 panels

4 reviews

Catherine Snow (Genomics England)

Red List (low evidence)

No further variants have been reported in the literature to date (21/10/2019).
Created: 21 Oct 2019, 3:04 p.m. | Last Modified: 21 Oct 2019, 3:04 p.m.
Panel Version: 1.372

Ivone Leong (Genomics England Curator)

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.

Ellen McDonagh (Genomics England Curator)

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

single mutation report in literature
Created: 7 Feb 2016, 8:37 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • hepatic disease and combined respiratory chain complex deficiencies
OMIM
611985
Clinvar variants
Variants in MRPS23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: MRPS23 was added gene: MRPS23 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: MRPS23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS23 were set to PMID: 26741492 Phenotypes for gene: MRPS23 were set to hepatic disease and combined respiratory chain complex deficiencies