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Cytopenias and congenital anaemias

Gene: RPL26

Red List (low evidence)

RPL26 (ribosomal protein L26)
EnsemblGeneIds (GRCh38): ENSG00000161970
EnsemblGeneIds (GRCh37): ENSG00000161970
OMIM: 603704, Gene2Phenotype
RPL26 is in 7 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At least 1 variant reported, together with supporting in vitro data
Created: 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)

Green List (high evidence)

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

11 Mar 2017, Gel status: 1

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.

9 Mar 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RPL26 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red

7 Mar 2017, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for RPL26 were set to ?Diamond-Blackfan anemia 11 614900

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

RPL26 was created by LouiseD

17 Feb 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

RPL26 was added to Cytopaenias and congenital anaemiaspanel. Sources: Expert list