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  3. RPS28
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Bone Marrow Failure

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

Chirag Patel (Genetic Health Queensland)

I don't know

Two individuals reported in 2014, none since.
Sources: Expert list
Created: 12 Dec 2023, 11:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 12 Dec 2023, 11:39 p.m.

Panel version: 1.76

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
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

15 Dec 2023, 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).

12 Dec 2023, Gel status: 2

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

12 Dec 2023, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: RPS28 was added gene: RPS28 was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: RPS28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS28 were set to PMID: 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