Cytopenias and congenital anaemias
Gene: RPL27EnsemblGeneIds (GRCh38): ENSG00000131469
EnsemblGeneIds (GRCh37): ENSG00000131469
OMIM: 607526, Gene2Phenotype
RPL27 is in 5 panels
3 reviews
Rebecca Foulger (Genomics England curator)
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.
Sarah Leigh (Genomics England Curator)
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 geneCreated: 7 Mar 2017, 4:17 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
- Unknown
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Diamond-Blackfan anemia
- ?Diamond-Blackfan anemia 16, 617408
- OMIM
- 607526
- Clinvar variants
- Variants in RPL27
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for RPL27 were set to Diamond-Blackfan anemia; ?Diamond-Blackfan anemia 16, 617408
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 Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for RPL27 was changed to Unknown
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RPL27 were set to Diamond-Blackfan anemia
Set publications
Sarah Leigh (Genomics England Curator)Publications for RPL27 were set to 25424902
Created
Louise Daugherty (Genomics England Curator)RPL27 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)RPL27 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN