Combined Immunodeficiency

Gene: DOCK2

Green List (high evidence)

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

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

History Filter Activity

27 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dock2 has been classified as Green List (High Evidence).

27 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DOCK2 were changed from to 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

27 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DOCK2 were set to

27 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: DOCK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DOCK2 was added gene: DOCK2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: DOCK2 was set to Unknown