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COVID-19 research

Gene: DOCK2

Green List (high evidence)

DOCK2 (dedicator of cytokinesis 2)
EnsemblGeneIds (GRCh38): ENSG00000134516
EnsemblGeneIds (GRCh37): ENSG00000134516
OMIM: 603122, Gene2Phenotype
DOCK2 is in 4 panels

4 reviews

Kimberly Gilmour (Great Ormond Street Hopsital)

Green List (high evidence)

agree with green gene
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Tracy Briggs (Manchester Genomic Medicine Centre)

Green List (high evidence)

YES- this is covered on our targeted exome
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is enough evidence to rate this gene Green.
Created: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): DOCK2 .PanelApp HGNC gene symbol check: DOCK2 . IUIS Disease: DOCK2 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency
Created: 2 Jul 2018, 10:35 a.m.
Comment on list classification: Changed from Amber to Green, there more than three unrelated families with biallelic loss-of-function mutations
Created: 18 Jun 2018, 12:43 p.m.
Comment on publications: added publications to further support DOCK2 variants resulting in PID phenotype
Created: 18 Jun 2018, 12:42 p.m.
From PMID: 28694805 (2017). The inbred population of the MENA region provides a great opportunity to identify monogenic PIDs through novel next-generation sequencing technology. Middle East and North Africa region (MENA) populations are of different ethnic origins. Studies of PIDs in the region had contributed into the discovery and the understanding of large numbers of these disorders. For example, more than 12 novel PID genes were discovered through studying patients from the MENA region in the last 2  years, one of which include DOCK2 (PMID:26083206)
Created: 18 Jun 2018, 12:42 p.m.
Clinically, DOCK8 deficiency is characterized by allergic inflammation as well as susceptibility towards infections, autoimmunity and malignancy.
Created: 18 Jun 2018, 12:29 p.m.
Comment on publications: Added Dobbs (2015) PMID:26083206 reported 5 unrelated children with immunodeficiency-40 (IMD40; 616433) and identified 7 different biallelic mutations in the DOCK2 gene. The mutations were found by whole-exome sequencing, sometimes combined with linkage analysis, and segregated with the disorder in the families. Four of the mutations led to premature termination of the protein, and 3 were missense mutations affecting conserved residues, consistent with a loss of function.
Created: 18 Jun 2018, 12:27 p.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s) GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 20 Apr 2018, 12:25 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: DOCK2, GRID_Gene_Symbol: DOCK2, GRID_Transcript_ENS_Community submitted: ENST00000256935, GRID_Transcript_RefSeq: NM_004946.2, GRID_Transcript_ENS_used_on_Production: ENST00000256935
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Dock 2 deficiency, Immunodeficiency 40
  • Immunodeficiencies affecting cellular and humoral immunity
  • Immunodeficiency 40, 616433
  • Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells
OMIM
603122
Clinvar variants
Variants in DOCK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: DOCK2 was added gene: DOCK2 was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: DOCK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK2 were set to 28694805; 26083206; 29503648 Phenotypes for gene: DOCK2 were set to Dock 2 deficiency, Immunodeficiency 40; Immunodeficiencies affecting cellular and humoral immunity; Immunodeficiency 40, 616433; Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells