Radial dysplasia

Gene: RPS24

Green List (high evidence)

RPS24 (ribosomal protein S24)
EnsemblGeneIds (GRCh38): ENSG00000138326
EnsemblGeneIds (GRCh37): ENSG00000138326
OMIM: 602412, Gene2Phenotype
RPS24 is in 9 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, 1:40 p.m.

Rebecca Foulger (Genomics England curator)

Added the 'deletions' tag based on the 5,134-bp deletion reported in PMID:23812780.
Created: 9 Mar 2017, 10:16 a.m.
Comment when marking as ready: Diamond Blackfan anemia (DBA) is relevant phenotype for the panel, and >3 cases supporting causation..
Created: 9 Mar 2017, 10:07 a.m.
Comment on list classification: Kept rating as Green: >3 cases supporting causation from OMIM and literature.
Created: 9 Mar 2017, 10:07 a.m.
4 cases on OMIM supporting causation of Diamond-Blackfan anemia, including a sporadic case and insertions/deletions. With at least 1 further case from the literature (PMID:25946618).
Created: 9 Mar 2017, 10:06 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 3, 610629
  • upper limb malformation
OMIM
602412
Clinvar variants
Variants in RPS24
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 RPS24 were set to Diamond-Blackfan anemia 3, 610629; upper limb malformation

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 RPS24 were set to 17186470; 2210388; 19773262; 8647458; 19689926

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)

RPS24 was added to Radial dysplasiapanel. Sources: Expert list

18 Oct 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

RPS24 was created by rfoulger

18 Oct 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

RPS24 was added to Radial dysplasiapanel. Sources: Other