Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Severe Combined Immunodeficiency (absent T absent B cells) v0.6 RAC2 Zornitza Stark Marked gene: RAC2 as ready
Severe Combined Immunodeficiency (absent T absent B cells) v0.6 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency (absent T absent B cells) v0.6 RAC2 Zornitza Stark Marked gene: RAC2 as ready
Severe Combined Immunodeficiency (absent T absent B cells) v0.6 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency (absent T absent B cells) v0.6 RAC2 Zornitza Stark Classified gene: RAC2 as Green List (high evidence)
Severe Combined Immunodeficiency (absent T absent B cells) v0.6 RAC2 Zornitza Stark Gene: rac2 has been classified as Green List (High Evidence).
Severe Combined Immunodeficiency (absent T absent B cells) v0.5 RAC2 Zornitza Stark 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
Added comment: GoF variants reported in at least 5 unrelated individuals, functional data including animal model.
Sources: Expert list