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  2. Cytopenias and congenital anaemias
  3. RPS24
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Cytopenias and congenital anaemias

Gene: RPS24

Green List (high evidence)
RPS24 (ribosomal protein S24)
EnsemblGeneIds (GRCh38): ENSG00000138326
EnsemblGeneIds (GRCh37): ENSG00000138326
OMIM: 602412, Gene2Phenotype
RPS24 is in 8 panels

2 reviews

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: 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 "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
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
  • UKGTN
Phenotypes
  • Inherited Bone Marrow Failure Syndromes
  • Diamond Blackfan anemia
  • Diamond-Blackfan Anemia
  • Diamond-blackfan anemia 3, 610629
  • Diamond_Blackfan Anemia 3
  • DIAMOND-BLACKFAN ANEMIA 3
Tags
deletions
OMIM
602412
Clinvar variants
Variants in RPS24
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

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: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for RPS24 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Mar 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for RPS24 were set to 17186470; 25946618; 2210388; 19773262; 8647458; 19689926

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

RPS24 was created by LouiseD

17 Feb 2017, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

RPS24 was added to Cytopaenias and congenital anaemiaspanel. Sources: UKGTN,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services