Congenital neutropaenia

Gene: RAC2

Red List (low evidence)

RAC2 (Rac family small GTPase 2)
EnsemblGeneIds (GRCh38): ENSG00000128340
EnsemblGeneIds (GRCh37): ENSG00000128340
OMIM: 602049, Gene2Phenotype
RAC2 is in 6 panels

2 reviews

Sophie Hambleton (Newcastle University)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with Neutrophil immunodeficiency syndrome, 608203 in OMIM, no disease association in G2P. Expert review red and 1/4 sources
Created: 25 May 2016, 7:44 a.m.

Details

Mode of Inheritance
Unknown
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

25 May 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

25 May 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene RAC2 was set to Unknown

25 May 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene RAC2 were set to Neutrophil immunodeficiency syndrome, 608203

30 Sep 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

RAC2 was added to Congenital neutropaeniapanel. Source: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

RAC2 was added to Congenital neutropaeniapanel. Sources: Radboud University Medical Center, Nijmegen