1. Panels
  2. Severe Combined Immunodeficiency (absent T absent B cells)
  3. RAC2
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Severe Combined Immunodeficiency (absent T absent B cells)

Gene: RAC2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

GoF variants reported in at least 5 unrelated individuals, functional data including animal model.
Sources: Expert list
Created: 3 Apr 2020, 2:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
SCID; recurrent bacterial and viral infections; lymphoproliferation; neutropaenia; reticular dysgenesis; deafness

Publications

Mode of pathogenicity
Other

Created: 3 Apr 2020, 2:49 a.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • SCID
  • recurrent bacterial and viral infections
  • lymphoproliferation
  • neutropaenia
  • reticular dysgenesis
  • deafness
OMIM
602049
Clinvar variants
Variants in RAC2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

3 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rac2 has been classified as Green List (High Evidence).

3 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rac2 has been classified as Green List (High Evidence).

3 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rac2 has been classified as Green List (High Evidence).

3 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RAC2 was added gene: RAC2 was added to Severe Combined Immunodeficiency (absent T absent B cells). Sources: Expert list Mode of inheritance for gene: RAC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAC2 were set to 32198141; 31919089; 31382036; 31071452; 30723080; 30654050 Phenotypes for gene: RAC2 were set to SCID; recurrent bacterial and viral infections; lymphoproliferation; neutropaenia; reticular dysgenesis; deafness Mode of pathogenicity for gene: RAC2 was set to Other Review for gene: RAC2 was set to GREEN