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| Cytopenia - NOT Fanconi anaemia v1.27 | RPS20 | Arina Puzriakova Classified gene: RPS20 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.27 | RPS20 | Arina Puzriakova Added comment: 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.27 | RPS20 | Arina Puzriakova Gene: rps20 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cytopenia - NOT Fanconi anaemia v1.26 | RPS20 |
Zornitza Stark 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 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 |
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