Radial dysplasia
Gene: RPL26EnsemblGeneIds (GRCh38): ENSG00000161970
EnsemblGeneIds (GRCh37): ENSG00000161970
OMIM: 603704, Gene2Phenotype
RPL26 is in 9 panels
3 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: As per Sarah Leigh's review. One case to date with some supporting evidence. Watchlist at present as phenotype is appropriate for inclusion as a broader differential for radial dysplasia.Created: 11 May 2017, 1:29 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. At least 1 variant reported, together with supporting in vitro dataCreated: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Diamond Blackfan anemia; DIAMOND-BLACKFAN ANEMIA 11
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 Amber
- Expert list
- Other
- Phenotypes
-
- Diamond-Blackfan anemia 11
- Hypoplasia or aplasia of radius, unilateral
- Absent thumb, bilateral
- Tags
- OMIM
- 603704
- Clinvar variants
- Variants in RPL26
- Penetrance
- Complete
- 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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Upload gene information
Rebecca Foulger (Genomics England curator)RPL26 was added to Radial dysplasiapanel. Sources: Expert list
Created
Rebecca Foulger (Genomics England curator)RPL26 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)RPL26 was added to Radial dysplasiapanel. Sources: Other