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Cytopenias and congenital anaemias

Gene: RPS26

Green List (high evidence)

RPS26 (ribosomal protein S26)
EnsemblGeneIds (GRCh38): ENSG00000197728
EnsemblGeneIds (GRCh37): ENSG00000197728
OMIM: 603701, Gene2Phenotype
RPS26 is in 10 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Diamond Blackfan anemia (DBA) is relevant phenotype for the panel, and >3 cases supporting causation.
Created: 9 Mar 2017, 10:09 a.m.
Comment on list classification: Kept rating as Green: Plenty of cases supporting causation of Diamond-Blackfan anemia, with multiple variants (many cases from PMID: 20116044). Phenotype is relevant for the panel.
Created: 9 Mar 2017, 10:08 a.m.

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, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 10, 613309
  • Diamond_Blackfan Anemia 10
  • Diamond-Blackfan anemia 10
OMIM
603701
Clinvar variants
Variants in RPS26
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

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: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for RPS26 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Mar 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for RPS26 were set to 20116044; 24942156; 24675553; 25946618

17 Feb 2017, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

RPS26 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

RPS26 was created by LouiseD