Disorders of immune dysregulation

Gene: DOCK2

Amber List (moderate evidence)

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

2 reviews

Peter McNaughton (Queensland Children's Hospital)

I don't know

Patient with recurrent HLH. Heterozygous c.1334A>G (p.Asn445Ser) variant. Functional studies showing lower CD107a expression and diminished NK degranulation and cytotoxicity. ? partial dominant negative.
Sources: Literature
Created: 28 Feb 2023, 5:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
HLH

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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, 6:44 a.m. | Last Modified: 27 Jul 2021, 6:44 a.m.
Panel Version: 0.8527

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
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Genetic hemophagocytic lymphohistiocytosis MONDO:0015541
OMIM
603122
Clinvar variants
Variants in DOCK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dock2 has been classified as Amber List (Moderate Evidence).

4 May 2023, Gel status: 2

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: DOCK2 were changed from HLH to Genetic hemophagocytic lymphohistiocytosis MONDO:0015541

4 May 2023, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dock2 has been classified as Amber List (Moderate Evidence).

28 Feb 2023, Gel status: 0

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

Peter McNaughton (Queensland Children's Hospital)

gene: DOCK2 was added gene: DOCK2 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: DOCK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DOCK2 were set to PMID: 36836791 Phenotypes for gene: DOCK2 were set to HLH Review for gene: DOCK2 was set to AMBER