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  3. RPS20
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Diamond Blackfan anaemia

Gene: RPS20

Amber List (moderate evidence)
RPS20 (ribosomal protein S20)
EnsemblGeneIds (GRCh38): ENSG00000008988
EnsemblGeneIds (GRCh37): ENSG00000008988
OMIM: 603682, Gene2Phenotype
RPS20 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

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: 24 Sep 2020, 11:48 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond Blackfan anaemia

Publications

Mode of pathogenicity
Other

Created: 24 Sep 2020, 11:48 p.m.

Panel version: 0.33

Details

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

History Filter Activity

24 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

24 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

24 Sep 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RPS20 was added gene: RPS20 was added to Diamond Blackfan 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 Mode of pathogenicity for gene: RPS20 was set to Other Review for gene: RPS20 was set to AMBER