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  2. Cytopenias and congenital anaemias
  3. RPS14
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Cytopenias and congenital anaemias

Gene: RPS14

Red List (low evidence)
RPS14 (ribosomal protein S14)
EnsemblGeneIds (GRCh38): ENSG00000164587
EnsemblGeneIds (GRCh37): ENSG00000164587
OMIM: 130620, Gene2Phenotype
RPS14 is in 1 panel

2 reviews

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

Phenotypes
Macrocytic anemia, refractory, due to 5q deletion, somatic 153550

Created: 9 Mar 2017, 4:32 p.m.

Panel version: 0.522

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
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

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Macrocyticanemia,refractory,dueto5qdeletion,somatic,153550 3
  • Macrocytic anemia, refractory, due to 5q deletion, somatic, 153550 -3
Tags
somatic
OMIM
130620
Clinvar variants
Variants in RPS14
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 1

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: 1

Added New Source

Sarah Leigh (Genomics England Curator)

RPS14 was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

RPS14 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

RPS14 was created by LouiseD