Mitochondrial disorders
Gene: MRPS28EnsemblGeneIds (GRCh38): ENSG00000147586
EnsemblGeneIds (GRCh37): ENSG00000147586
OMIM: 611990, Gene2Phenotype
MRPS28 is in 1 panel
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
PMID:30566640 reported a single patient with intrauterine growth retardation, craniofacial dysmorphism and developmental delay and identified with biallelic MRPS28 variants.Created: 11 Dec 2023, 6:30 p.m. | Last Modified: 11 Dec 2023, 6:33 p.m.
Panel Version: 4.121
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 47, OMIM:618958
Publications
Hannah Knight (NIHR BioResource - University of Cambridge)
PMID: 30566640 (2019) reported a 30-year-old man with a multisystemic mitochondrial disorder and compound heterozygous variants in the MRPS28 gene. Patient fibroblasts showed decreased MRPS28 protein levels compared to controls. There were variable deficiencies of complexes I, III, IV, and V activities and complex assembly associated with decreased mitochondrial respiration activity in vitro. Additional studies of patient fibroblasts showed impaired assembly of the small mitoribosomal subunit (bS1m, encoded by MRPS28), decreased levels of 12S rRNA, and impaired mitochondrial translation. These defects could be rescued by expression of wildtype MRPS28
Sources: LiteratureCreated: 4 Dec 2023, 1:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Combined oxidative phosphorylation deficiency 47
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- ?Combined oxidative phosphorylation deficiency 47, OMIM:618958
- OMIM
- 611990
- Clinvar variants
- Variants in MRPS28
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: mrps28 has been classified as Red List (Low Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: MRPS28 were changed from ?Combined oxidative phosphorylation deficiency 47 to ?Combined oxidative phosphorylation deficiency 47, OMIM:618958
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Hannah Knight (NIHR BioResource - University of Cambridge)gene: MRPS28 was added gene: MRPS28 was added to Mitochondrial disorders. Sources: Literature Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS28 were set to 30566640 Phenotypes for gene: MRPS28 were set to ?Combined oxidative phosphorylation deficiency 47 Review for gene: MRPS28 was set to AMBER