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  2. Common Variable Immunodeficiency
  3. RAC2
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Common Variable Immunodeficiency

Gene: RAC2

Amber List (moderate evidence)
RAC2 (Rac family small GTPase 2)
EnsemblGeneIds (GRCh38): ENSG00000128340
EnsemblGeneIds (GRCh37): ENSG00000128340
OMIM: 602049, Gene2Phenotype
RAC2 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two siblings homozygous for a loss of function variant and a phenotype resembling CVID (not in OMIM), with supporting immunological assays of patient cells. Null mouse model demonstrates the gene has a critical role in B cell development and signalling. On the IUIS CVID phenotype gene list for human inborn errors of immunity (PMID: 32048120).
Sources: Expert list
Created: 21 Jul 2020, 5:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Common variable immunodeficiency

Publications

Created: 21 Jul 2020, 5:41 a.m.

Panel version: 0.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Common variable immunodeficiency
OMIM
602049
Clinvar variants
Variants in RAC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rac2 has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rac2 has been classified as Amber List (Moderate Evidence).

21 Jul 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: RAC2 was added gene: RAC2 was added to Common Variable Immunodeficiency. Sources: Expert list Mode of inheritance for gene: RAC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAC2 were set to 25512081; 32048120; 14564011 Phenotypes for gene: RAC2 were set to Common variable immunodeficiency Review for gene: RAC2 was set to AMBER