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Limb disorders

Gene: RPS19

Green List (high evidence)
RPS19 (ribosomal protein S19)
EnsemblGeneIds (GRCh38): ENSG00000105372
EnsemblGeneIds (GRCh37): ENSG00000105372
OMIM: 603474, Gene2Phenotype
RPS19 is in 11 panels

3 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Diamond-Blackfan anaemia is associated with congenital malformations in approx. 50%. Approximately 38% with upper limb abnormality (inc. triphalangeal, bifid, duplex, hypoplastic or absent thumbs). Therefore considered appropriate for inclusion in the broad differential of radial ray disorders.
Created: 11 May 2017, 1:38 p.m.
Created: 11 May 2017, 1:38 p.m.

Panel version: Imported from Radial dysplasia panel version 0.132

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: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" 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 Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mild radial hypoplasia
  • Diamond-Blackfan anemia 1, 105650
  • Hypoplastic thumbs
  • Absent thumbs
  • Radial Ray abnormality
  • Triphalangeal thumbs
OMIM
603474
Clinvar variants
Variants in RPS19
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Rebecca Foulger: Comment on list classification

16 Oct 2018, Gel status: 4

Added New Source, Set mode of inheritance, Set Phenotypes, Set publications

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to RPS19. Mode of inheritance for gene RPS19 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 1, 105650; Triphalangeal thumbs; Hypoplastic thumbs; Mild radial hypoplasia; Absent thumbs for gene: RPS19 Publications for gene RPS19 were changed from to 15384984; 9988267; 1746615

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS19 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RPS19 was created by Ellen McDonagh