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Mendeliome

Gene: MRPS28

Red List (low evidence)

MRPS28 (mitochondrial ribosomal protein S28)
EnsemblGeneIds (GRCh38): ENSG00000147586
EnsemblGeneIds (GRCh37): ENSG00000147586
OMIM: 611990, Gene2Phenotype
MRPS28 is in 2 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Update of phenotype name and MONDO term - no new published articles supporting gene-disease association.
Created: 5 Mar 2025, 12:19 a.m. | Last Modified: 5 Mar 2025, 12:19 a.m.
Panel Version: 1.2343

Phenotypes
combined oxidative phosphorylation deficiency 47, MONDO:0033537

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported.
Sources: Expert list
Created: 12 Apr 2020, 8:21 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intrauterine growth retardation; developmental delay; dysmorphism

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Intrauterine growth retardation
  • developmental delay
  • dysmorphism
OMIM
611990
Clinvar variants
Variants in MRPS28
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mrps28 has been classified as Red List (Low Evidence).

12 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MRPS28 was added gene: MRPS28 was added to Mendeliome. Sources: Expert list 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 Intrauterine growth retardation; developmental delay; dysmorphism Review for gene: MRPS28 was set to RED