Cytopenias and congenital anaemiasGene: RPL9
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 study
Created: 9 Mar 2017, 9:41 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Diamond Blackfan Anaemia (DBA)
Variants in this GENE are reported as part of current diagnostic practice
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Publications for RPL9 were set to 23718193; 20116044
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for RPL9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for RPL9 were set to 23718193
RPL9 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
RPL9 was created by LouiseD