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Diamond Blackfan anaemia

Gene: RPL9

Amber List (moderate evidence)
RPL9 (ribosomal protein L9)
EnsemblGeneIds (GRCh38): ENSG00000163682
EnsemblGeneIds (GRCh37): ENSG00000163682
OMIM: 603686, Gene2Phenotype
RPL9 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

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 list
Created: 14 Sep 2020, 8:39 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diamond Blackfan anaemia

Publications

Created: 14 Sep 2020, 8:39 a.m.

Panel version: 0.34

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Diamond Blackfan anaemia
OMIM
603686
Clinvar variants
Variants in RPL9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Sep 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RPL9 were set to 29114930; 20116044

30 Sep 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl9 has been classified as Amber List (Moderate Evidence).

14 Sep 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rpl9 has been classified as Red List (Low Evidence).

14 Sep 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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