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Limb disorders

Gene: RPS24

Green List (high evidence)
RPS24 (ribosomal protein S24)
EnsemblGeneIds (GRCh38): ENSG00000138326
EnsemblGeneIds (GRCh37): ENSG00000138326
OMIM: 602412, Gene2Phenotype
RPS24 is in 8 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.
Created: 11 May 2017, 1:40 p.m.

Panel version: Imported from Radial dysplasia panel version 0.134

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.
Created: 9 Mar 2017, 10:16 a.m.

Panel version: Imported from Radial dysplasia panel version Imported from "Cytopaenias and congenital anaemias" panel version 0.449

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
  • Diamond-Blackfan anemia 3, 610629
  • Radial Ray abnormality
  • upper limb malformation
OMIM
602412
Clinvar variants
Variants in RPS24
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: 4 cases on OMIM supporting cau

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 RPS24. Mode of inheritance for gene RPS24 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Diamond-Blackfan anemia 3, 610629; upper limb malformation for gene: RPS24 Publications for gene RPS24 were changed from to 17186470; 2210388; 8647458; 19689926; 19773262

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RPS24 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

RPS24 was created by Ellen McDonagh