Cytopenias and congenital anaemias
Gene: RPS27EnsemblGeneIds (GRCh38): ENSG00000177954
EnsemblGeneIds (GRCh37): ENSG00000177954
OMIM: 603702, Gene2Phenotype
RPS27 is in 5 panels
3 reviews
Rebecca Foulger (Genomics England curator)
Comment 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.
Sarah Leigh (Genomics England Curator)
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.
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 17, OMIM:617409
- OMIM
- 603702
- Clinvar variants
- Variants in RPS27
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: RPS27 were changed from Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409 to ?Diamond-Blackfan anemia 17, OMIM:617409
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for RPS27 were set to Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 17, 617409
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.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for RPS27 were set to 23718193; 25424902
Set publications
Sarah Leigh (Genomics England Curator)Publications for RPS27 were set to 23718193; 25424902; 20116044
Set publications
Sarah Leigh (Genomics England Curator)Publications for RPS27 were set to 23718193; 25424902
Added New Source
Louise Daugherty (Genomics England Curator)RPS27 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
Created
Louise Daugherty (Genomics England Curator)RPS27 was created by LouiseD