Red cell disorders
Gene: RPL9
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.Created: 30 Sep 2020, 8:34 p.m. | Last Modified: 30 Sep 2020, 8:34 p.m.
Panel Version: 0.34
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 listCreated: 14 Sep 2020, 8:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Diamond Blackfan anaemia
Publications
Gene: rpl9 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: RPL9 were changed from Diamond-Blackfan anemia; N/A Diamond-Blackfan anemia; ?Diamond-Blackfan anaemia to Diamond Blackfan anaemia
Publications for gene: RPL9 were set to 29114930
Gene: rpl9 has been classified as Amber List (Moderate Evidence).
Added phenotypes N/A Diamond-Blackfan anemia; Diamond-Blackfan anemia; ?Diamond-Blackfan anaemia for gene: RPL9
gene: RPL9 was added gene: RPL9 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: RPL9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RPL9 were set to 29114930 Phenotypes for gene: RPL9 were set to ?Diamond-Blackfan anaemia; N/A Diamond-Blackfan anemia; Diamond-Blackfan anemia