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  2. Cytopenias and congenital anaemias
  3. RPS19
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Cytopenias and congenital anaemias

Gene: RPS19

Green List (high evidence)
RPS19 (ribosomal protein S19)
EnsemblGeneIds (GRCh38): ENSG00000105372
EnsemblGeneIds (GRCh37): ENSG00000105372
OMIM: 603474, Gene2Phenotype
RPS19 is in 11 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, 10:11 a.m.
Comment on list classification: Kept rating as Green: >3 cases supporting causation for Diamond blackfan anemia. Confirmed DD-G2P gene for Diamond Blaclkfan anemia.
Created: 9 Mar 2017, 10:10 a.m.
Created: 9 Mar 2017, 10:10 a.m.

Panel version: 0.447

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

Created: 16 Jan 2017, 3:47 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-Blackfan anemia 1, 105650
  • Diamond_Blackfan Anemia
  • DIAMOND-BLACKFAN ANEMIA 1
OMIM
603474
Clinvar variants
Variants in RPS19
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

Set publications

Rebecca Foulger (Genomics England curator)

Publications for RPS19 were set to 24675553; 25946618; 9988267; 15384984

9 Mar 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for RPS19 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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).

17 Feb 2017, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

RPS19 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)

RPS19 was created by LouiseD