Cytopenias and congenital anaemias
Gene: RPS27Comment on phenotypes: New gene:disease association added in OMIM in March 2017: ?Diamond-Blackfan anemia 17, 617409 (1 patient only).Created: 2 May 2017, 2:10 p.m.
Comment when marking as ready: Not associated with phenotype in OMIM or G2P. Single de novo splice variant reported in a 2 year old, diagnosed with Diamond-Blackfan anemia at birth. RT-PCR confirmed effect on splicing (PMID 25424902) .Created: 7 Mar 2017, 4:57 p.m.
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
Phenotypes for gene: RPS27 were changed from Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 to ?Diamond-Blackfan anemia 17, OMIM:617409
Phenotypes for RPS27 were set to Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409
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).
Publications for RPS27 were set to 23718193; 25424902
Publications for RPS27 were set to 23718193; 25424902; 20116044
Publications for RPS27 were set to 23718193; 25424902
RPS27 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
RPS27 was created by LouiseD