Cytopenias and congenital anaemias
Gene: RPS29EnsemblGeneIds (GRCh38): ENSG00000213741
EnsemblGeneIds (GRCh37): ENSG00000213741
OMIM: 603633, Gene2Phenotype
RPS29 is in 7 panels
2 reviews
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Diamond-Blackfan anemia 13 615909
- OMIM
- 603633
- Clinvar variants
- Variants in RPS29
- Penetrance
- Incomplete
- Panels with this gene
History Filter Activity
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 Amber List (Moderate Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RPS29 were set to Diamond-Blackfan anemia 13 615909
Added New Source
Louise Daugherty (Genomics England Curator)RPS29 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list
Created
Louise Daugherty (Genomics England Curator)RPS29 was created by LouiseD