Cytopenias and congenital anaemias
Gene: RPL13
RPL13 (ribosomal protein L13)
EnsemblGeneIds (GRCh38): ENSG00000167526
EnsemblGeneIds (GRCh37): ENSG00000167526
OMIM: 113703, Gene2Phenotype
RPL13 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000167526
EnsemblGeneIds (GRCh37): ENSG00000167526
OMIM: 113703, Gene2Phenotype
RPL13 is in 4 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Not associated with phenotype in OMIM or G2P. One variant reported in Diamond-Blackfan anaemiaCreated: 15 Aug 2017, 12:36 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Diamond-Blackfan anaemia
- OMIM
- 113703
- Clinvar variants
- Variants in RPL13
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
History Filter Activity
15 Aug 2017, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for RPL13 were set to Diamond-Blackfan anaemia
15 Aug 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
15 Aug 2017, Gel status: 1
Set publications
Sarah Leigh (Genomics England Curator)Publications for RPL13 were set to 25424902
15 Aug 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
9 Apr 2017, Gel status: 0
Created
Mary Alikian (Imperial College London)RPL13 was created by malikian
9 Apr 2017, Gel status: 0
Added New Source
Mary Alikian (Imperial College London)RPL13 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list