Cytopenias and congenital anaemias
Gene: RPL19EnsemblGeneIds (GRCh38): ENSG00000108298
EnsemblGeneIds (GRCh37): ENSG00000108298
OMIM: 180466, Gene2Phenotype
RPL19 is in 1 panel
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on phenotypes: Can find no evidence for association with this phenotypeCreated: 9 Mar 2017, 11:25 a.m.
Comment when marking as ready: Not associated with phenotype in OMIM or G2P. No variants reported.Created: 9 Mar 2017, 11:23 a.m.
Comment on publications: RPL19 is mentioned in pmid 23718193, but no RPL19 variants can be found in this or the citations mentioned for this gene in this publicationCreated: 9 Mar 2017, 11:23 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
- Unknown
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Diamond-Blackfan anemia
- OMIM
- 180466
- Clinvar variants
- Variants in RPL19
- Penetrance
- Complete
- Publications
- 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.
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RPL19 were set to Diamond-Blackfan anemia
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for RPL19 was changed to Unknown
Set publications
Sarah Leigh (Genomics England Curator)Publications for RPL19 were set to 23718193
Added New Source
Louise Daugherty (Genomics England Curator)RPL19 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN
Created
Louise Daugherty (Genomics England Curator)RPL19 was created by LouiseD