Combined Immunodeficiency
Gene: DOCK2

DOCK2 (dedicator of cytokinesis 2)
EnsemblGeneIds (GRCh38): ENSG00000134516
EnsemblGeneIds (GRCh37): ENSG00000134516
OMIM: 603122, Gene2Phenotype
DOCK2 is in 6 panels

1 review

Danielle Ariti (University of Melbourne)

Green List (high evidence)

13 unrelated individuals; two mouse models; 10 biallelic mutations found (6 led to premature termination of the protein & 4 missense mutations affecting conserved residues)

All patients presented with combined immunodeficiency in infancy (defective IFN-mediated immunity), early onset of invasive bacterial and viral infections, functional defects in T/B/NK cells and elevated IgM (normal IgG/IgA).
Created: 27 Jul 2021, 1:47 a.m. | Last Modified: 27 Jul 2021, 1:47 a.m.

Panel Version: 0.232

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 40 MIM# 616433; T/B-cell lymphopaenia; early-onset invasive herpes/viral/bacterial Infections; function defects in T/B/NK cells; immunodeficiency; defective IFN-mediated immunity; elevated IgM; normal IgG/IgA levels

Publications

Created: 27 Jul 2021, 1:47 a.m.
Last Modified: 27 Jul 2021, 1:47 a.m.
Panel version: 0.232

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Melbourne Genomics Health Alliance Immunology Flagship
Victorian Clinical Genetics Services

Phenotypes

Immunodeficiency 40 MIM# 616433
T/B-cell lymphopaenia
early-onset invasive herpes/viral/bacterial Infections
function defects in T/B/NK cells
immunodeficiency
defective IFN-mediated immunity
elevated IgM
normal IgG/IgA levels

OMIM

603122

Clinvar variants

Variants in DOCK2

Penetrance

None

Publications

Panels with this gene