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Fetal anomalies

Gene: RPS28

Amber List (moderate evidence)

RPS28 (ribosomal protein S28)
EnsemblGeneIds (GRCh38): ENSG00000233927
EnsemblGeneIds (GRCh37): ENSG00000233927
OMIM: 603685, Gene2Phenotype
RPS28 is in 11 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

2 unrelated families reported in 2014. Antenatally detectable phenotypic features included cleft palate, micrognathia, cardiac, auricular and renal anomalies
Sources: Literature
Created: 2 Feb 2022, 5:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164
OMIM
603685
Clinvar variants
Variants in RPS28
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps28 has been classified as Amber List (Moderate Evidence).

2 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rps28 has been classified as Amber List (Moderate Evidence).

2 Feb 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: RPS28 was added gene: RPS28 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS28 were set to 24942156 Phenotypes for gene: RPS28 were set to Diamond Blackfan anemia 15 with mandibulofacial dysostosis - MIM#606164 Review for gene: RPS28 was set to AMBER