Radial dysplasia

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.

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.

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 Green
  • Expert list
  • Other
Phenotypes
  • Diamond-Blackfan anemia 1, 105650
  • Mild radial hypoplasia
  • Hypoplastic thumbs
  • Absent thumbs
  • Triphalangeal thumbs
OMIM
603474
Clinvar variants
Variants in RPS19
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

23.05.2017: Panel revised and approved to Version 1.0 after expert review.

22 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for RPS19 were set to Diamond-Blackfan anemia 1, 105650; Mild radial hypoplasia; Hypoplastic thumbs; Absent thumbs; Triphalangeal thumbs

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

11 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for RPS19 were set to 1746615; 9988267; 15384984

11 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

6 Dec 2016, Gel status: 0

Upload gene information

Rebecca Foulger (Genomics England curator)

RPS19 was added to Radial dysplasiapanel. Sources: Expert list

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

RPS19 was created by rfoulger

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

RPS19 was added to Radial dysplasiapanel. Sources: Other