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  2. Cytopenias and congenital anaemias
  3. RAC2
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Cytopenias and congenital anaemias

Gene: RAC2

Red List (low evidence)
RAC2 (Rac family small GTPase 2)
EnsemblGeneIds (GRCh38): ENSG00000128340
EnsemblGeneIds (GRCh37): ENSG00000128340
OMIM: 602049, Gene2Phenotype
RAC2 is in 4 panels

1 review

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Phenotype is of immunodeficiency owing to neutrophil defect. Therefore not appropriate for the inclusion criteria and only one case reported. Not for inclusion.
Created: 9 Mar 2017, 4:32 p.m.

Phenotypes
Neutrophil immunodeficiency syndrome, 608203

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

Panel version: 0.522

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Neutrophil immunodeficiency syndrome, 608203
OMIM
602049
Clinvar variants
Variants in RAC2
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)

RAC2 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)

RAC2 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)

RAC2 was created by LouiseD