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  3. MRPS28
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Mitochondrial disease

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single individual reported.
Sources: Expert list
Created: 12 Apr 2020, 8:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intrauterine growth retardation; developmental delay; dysmorphism; Combined oxidative phosphorylation deficiency 47, MIM618958

Publications

Created: 12 Apr 2020, 8:20 a.m.

Panel version: 0.454

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Intrauterine growth retardation
  • developmental delay
  • dysmorphism
  • Combined oxidative phosphorylation deficiency 47, MIM618958
OMIM
611990
Clinvar variants
Variants in MRPS28
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MRPS28 were changed from Intrauterine growth retardation; developmental delay; dysmorphism to Intrauterine growth retardation; developmental delay; dysmorphism; Combined oxidative phosphorylation deficiency 47, MIM618958

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 Mitochondrial disease. 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