Radial dysplasia
Gene: RPS29EnsemblGeneIds (GRCh38): ENSG00000213741
EnsemblGeneIds (GRCh37): ENSG00000213741
OMIM: 603633, Gene2Phenotype
RPS29 is in 7 panels
4 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: As per reviews. Two cases to date and phenotype considered appropriate for inclusion as DBA as a whole is part of the broader differential for radial dysplasia. Watchlist based upon current evidence.Created: 11 May 2017, 1:44 p.m.
Sarah Leigh (Genomics England Curator)
Associated with phenotype in OMIM, not in G2P. At 2 least variants reported in two families, both displaying incomplete penetranceCreated: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Rebecca Foulger (Genomics England curator)
Although the OMIM pages for Diamond-Blackfan anemia 1/RPS29 don't mention upper limb abnormalities, I have included RPS29 in the panel because it's part of a phenotypic series for Diamond-Blackfan anemia, and most other entries in the series include some upper limb malformation information.Created: 18 Oct 2016, 1:22 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- Diamond-Blackfan anemia 13
- Tags
- OMIM
- 603633
- Clinvar variants
- Variants in RPS29
- 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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for RPS29 were set to 24829207
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Created
Rebecca Foulger (Genomics England curator)RPS29 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)RPS29 was added to Radial dysplasiapanel. Sources: Other