Cytopenias and congenital anaemias
Gene: RPL26EnsemblGeneIds (GRCh38): ENSG00000161970
EnsemblGeneIds (GRCh37): ENSG00000161970
OMIM: 603704, Gene2Phenotype
RPL26 is in 9 panels
2 reviews
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 Red
- Expert list
- Phenotypes
-
- ?Diamond-Blackfan anemia 11 614900
- OMIM
- 603704
- Clinvar variants
- Variants in RPL26
- Penetrance
- Complete
- 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.
Added New Source
Sarah Leigh (Genomics England Curator)RPL26 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RPL26 were set to ?Diamond-Blackfan anemia 11 614900
Created
Louise Daugherty (Genomics England Curator)RPL26 was created by LouiseD
Added New Source
Louise Daugherty (Genomics England Curator)RPL26 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list