Radial dysplasia
Gene: RPS26EnsemblGeneIds (GRCh38): ENSG00000197728
EnsemblGeneIds (GRCh37): ENSG00000197728
OMIM: 603701, Gene2Phenotype
RPS26 is in 10 panels
3 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Diamond-Blackfan anaemia is associated with congenital malformations in approx. 50%. Approximately 38% with upper limb abnormality (inc. triphalangeal, bifid, duplex, hypoplastic or absent thumbs). Therefore considered appropriate for inclusion in the broad differential of radial ray disorders.Created: 11 May 2017, 1:41 p.m.
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Diamond Blackfan anemia (DBA) is relevant phenotype for the panel, and >3 cases supporting causation.Created: 9 Mar 2017, 10:09 a.m.
Comment on list classification: Kept rating as Green: Plenty of cases supporting causation of Diamond-Blackfan anemia, with multiple variants (many cases from PMID: 20116044). Phenotype is relevant for the panel.Created: 9 Mar 2017, 10:08 a.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 Green
- Expert list
- Other
- Phenotypes
-
- Diamond-Blackfan anemia 10, 613309
- upper limb malformation
- OMIM
- 603701
- Clinvar variants
- Variants in RPS26
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for RPS26 were set to Diamond-Blackfan anemia 10, 613309; upper limb malformation
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for RPS26 were set to 20116044
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Rebecca Foulger (Genomics England curator)RPS26 was added to Radial dysplasiapanel. Sources: Expert list
Created
Rebecca Foulger (Genomics England curator)RPS26 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)RPS26 was added to Radial dysplasiapanel. Sources: Other