Cytopenias and congenital anaemias
Gene: RPL9EnsemblGeneIds (GRCh38): ENSG00000163682
EnsemblGeneIds (GRCh37): ENSG00000163682
OMIM: 603686, Gene2Phenotype
RPL9 is in 3 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Not associated with phenotype in OMIM or G2P. One variant reported (c.375G>C, p.Arg125Ser affected mother and son). Author's comment that lymphoblastoid cells from these patients did not display a pre-rRNA processing defect similar to that observed upon knockdown of RPL9 with siRNAs. They therefore concluded that the variant was a rare variant of unknown significance (PMID 23718193).Created: 13 Mar 2017, 11:01 a.m.
Comment on mode of inheritance: moi from Bridge studyCreated: 9 Mar 2017, 9:41 a.m.
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond Blackfan Anaemia (DBA)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Diamond-Blackfan anemia
- OMIM
- 603686
- Clinvar variants
- Variants in RPL9
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Set publications
Sarah Leigh (Genomics England Curator)Publications for RPL9 were set to 23718193; 20116044
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for RPL9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set publications
Sarah Leigh (Genomics England Curator)Publications for RPL9 were set to 23718193
Added New Source
Louise Daugherty (Genomics England Curator)RPL9 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
Created
Louise Daugherty (Genomics England Curator)RPL9 was created by LouiseD