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Cytopenias and congenital anaemias

Gene: RPL13

Red List (low evidence)

RPL13 (ribosomal protein L13)
EnsemblGeneIds (GRCh38): ENSG00000167526
EnsemblGeneIds (GRCh37): ENSG00000167526
OMIM: 113703, Gene2Phenotype
RPL13 is in 2 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 anaemia
Created: 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