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  3. RPS20
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Cytopenia - NOT Fanconi anaemia

Gene: RPS20

Amber List (moderate evidence)
RPS20 (ribosomal protein S20)
EnsemblGeneIds (GRCh38): ENSG00000008988
EnsemblGeneIds (GRCh37): ENSG00000008988
OMIM: 603682, Gene2Phenotype
RPS20 is in 1 panel

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Amber as currently only two unrelated cases reported with DBA in association with variants in the RPS20 gene (PMID:32790018).
Created: 9 Oct 2020, 12:52 p.m. | Last Modified: 9 Oct 2020, 12:52 p.m.
Panel Version: 1.27
Created: 9 Oct 2020, 12:52 p.m.
Last Modified: 9 Oct 2020, 12:52 p.m.
Panel version: 1.27

Zornitza Stark (Australian Genomics)

I don't know

Two unrelated cases where a de novo variant involving Ile84 (Ile84Ser and Ile84Asn), and reduce the RPS20 protein level in patient cells. Yeast models with mutation of the cognate residue resulted in defects in growth, ribosome biogenesis, and polysome formation. Loss of function may not be the mechanism of disease, because loss of function variants appear to be exclusively associated with familial colorectal cancer without the DBA phenotype.
Sources: Literature
Created: 5 Oct 2020, 9:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond Blackfan anaemia

Publications

Created: 5 Oct 2020, 9:05 a.m.

Panel version: 1.26

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Diamond Blackfan anaemia
OMIM
603682
Clinvar variants
Variants in RPS20
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: rps20 has been classified as Amber List (Moderate Evidence).

5 Oct 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: RPS20 was added gene: RPS20 was added to Cytopenia - NOT Fanconi anaemia. Sources: Literature Mode of inheritance for gene: RPS20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPS20 were set to 32790018 Phenotypes for gene: RPS20 were set to Diamond Blackfan anaemia Review for gene: RPS20 was set to AMBER