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| Diamond Blackfan anaemia v0.36 | RPL9 | Zornitza Stark Publications for gene: RPL9 were set to 29114930; 20116044 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.35 | RPL9 | Zornitza Stark Classified gene: RPL9 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.35 | RPL9 | Zornitza Stark Gene: rpl9 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.34 | RPL9 |
Zornitza Stark edited their review of gene: RPL9: Added comment: New publication, second individual reported with same c.-2+1G>C variant in the 5′UTR of RPL9, deleterious effect demonstrated, functional data, upgrade to Amber: PMID: 31799629 (2020) - Female infant diagnosed with Diamond-Blackfan anaemia carrying a de novo variant (c.-2+1G>C) in the 5′UTR of RPL9, predicted to affect the donor splice site of exon 1. Phenotypic overlap can be seen with the previously reported case with the same variant, including colitis, thumb anomaly, and microcephaly. Functional studies showed the variant impairs processing of pre-rRNA during ribosome biogenesis, stabilises TP53 and impairs the proliferation and differentiation of erythroid cells. Zebrafish models of RPL9 LoF recapitulate the anaemia phenotype.; Changed rating: AMBER; Changed publications: 29114930, 20116044, 31799629 |
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| Diamond Blackfan anaemia v0.21 | RPL9 | Zornitza Stark Marked gene: RPL9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.21 | RPL9 | Zornitza Stark Gene: rpl9 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Diamond Blackfan anaemia v0.21 | RPL9 |
Zornitza Stark gene: RPL9 was added gene: RPL9 was added to Diamond Blackfan anaemia. Sources: Expert list Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RPL9 were set to 29114930; 20116044 Phenotypes for gene: RPL9 were set to Diamond Blackfan anaemia Review for gene: RPL9 was set to RED Added comment: PMID: 29114930, de novo splice site variant, c.-2+1G>C, functional impact of this variant is likely deleterious but not proven. Inherited missense variant reported in PMID 20116044, p.Arg125Ser is present in 31 hets in gnomad. Sources: Expert list |
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