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Bone Marrow Failure v0.165 RPS20 Zornitza Stark Marked gene: RPS20 as ready
Bone Marrow Failure v0.165 RPS20 Zornitza Stark Gene: rps20 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.165 RPS20 Zornitza Stark Classified gene: RPS20 as Amber List (moderate evidence)
Bone Marrow Failure v0.165 RPS20 Zornitza Stark Gene: rps20 has been classified as Amber List (Moderate Evidence).
Bone Marrow Failure v0.164 RPS20 Zornitza Stark gene: RPS20 was added
gene: RPS20 was added to Bone Marrow Failure. 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
Added comment: 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