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Immunological disorders_SuperPanel_PanelAppAustralia

Gene: RAC2

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

1 review

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Changed MOI from 'BIALLELIC' to 'BOTH' after email confirmation from Zornitza Stark (April 8. 2020).
Created: 8 Apr 2020, 1:07 p.m. | Last Modified: 8 Apr 2020, 1:07 p.m.
Panel Version: 0.2
Created: 8 Apr 2020, 1:07 p.m.
Last Modified: 8 Apr 2020, 1:07 p.m.
Panel version: 0.2

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • neutropaenia
  • lymphoproliferation
  • SCID
  • Reduced Ab responses following vaccination
  • recurrent bacterial and viral infections
  • selective IgA deficiency
  • deafness
  • reticular dysgenesis
OMIM
602049
Clinvar variants
Variants in RAC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Apr 2020, Gel status: 3

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: RAC2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

7 Apr 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: RAC2 was added gene: RAC2 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Expert Review Green,Expert list Mode of inheritance for gene: RAC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAC2 were set to 30654050; 32198141; 30723080; 31071452; 31382036; 31919089 Phenotypes for gene: RAC2 were set to neutropaenia; lymphoproliferation; SCID; Reduced Ab responses following vaccination; recurrent bacterial and viral infections; selective IgA deficiency; deafness; reticular dysgenesis