Cytopenias and congenital anaemiasGene: RPL27
Comment on phenotypes: New putative disease:gene association for RPL27 added in OMIM in March 2017 (MIM:617408): 1 patient only reported so far.
Created: 2 May 2017, 1:53 p.m.
Comment when marking as ready: Not associated with phenotype in OMIM or G2P. One variant reported, together with zebra fish data.
Created: 7 Mar 2017, 4:19 p.m.
Comment on mode of inheritance: comment in PMID: 25424902 that Diamond-Blackfan anaemia is inherited as a monoalleic condition, but no evidence provided for the inheritance of the variant in this gene
Created: 7 Mar 2017, 4:17 p.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
Phenotypes for RPL27 were set to Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for RPL27 was changed to Unknown
Phenotypes for RPL27 were set to Diamond-Blackfan anemia
Publications for RPL27 were set to 25424902
RPL27 was created by LouiseD
RPL27 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN