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Primary immunodeficiency

Gene: DOCK2

Green List (high evidence)

DOCK2 (dedicator of cytokinesis 2)
EnsemblGeneIds (GRCh38): ENSG00000134516
EnsemblGeneIds (GRCh37): ENSG00000134516
OMIM: 603122, Gene2Phenotype
DOCK2 is in 3 panels

5 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changed rating of gene from Red to Green. This gene was rated as Green in v2.208 and incorrectly automatically demoted to Red in v2.209. This was due to a defect in the automatic PanelApp uploading tool when a set of publications was added to the panel with the source ‘Other’, and under certain conditions associated to previous sources listed, resulted in the rating of the gene being automatically changed when it should not have been.
Created: 14 Oct 2020, 12:42 p.m. | Last Modified: 14 Oct 2020, 12:42 p.m.
Panel Version: 2.244
The following PubMed IDs were added to gene DOCK2 (OMIM gene MIM#603122): 29204803;26083206. These publications have been associated with the gene by the immunodeficiencies subgroup of the Human Phenotype Ontology Immune Mediated Disorders Consortium (https://hpo-immune-mediated-disorders.groups.io/g/update) in August 2020.
Created: 13 Oct 2020, 9:36 a.m. | Last Modified: 13 Oct 2020, 9:36 a.m.
Panel Version: 2.208

Publications

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
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • GRID V2.0
Phenotypes
  • Dock 2 deficiency, Immunodeficiency 40
  • Immunodeficiency 40, 616433
  • Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells
  • Immunodeficiencies affecting cellular and humoral immunity
OMIM
603122
Clinvar variants
Variants in DOCK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

13 Oct 2020, Gel status: 1

Added New Source, Set publications, Status Update

Eleanor Williams (Genomics England Curator)

Source Other was added to DOCK2. Publications for gene DOCK2 were updated from 26083206; 28694805; 29503648 to 26083206; 29503648; 29204803; 28694805 Rating Changed from Green List (high evidence) to Red List (low evidence)

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DOCK2.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to DOCK2.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to DOCK2.

12 Jul 2018, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

1 Jul 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene DOCK2 were set to Dock 2 deficiency, Immunodeficiency 40, Immunodeficiency 40, 616433, Nl NK cells, but defective function. Poor interferon responses in hematopoietic and non-hematopoietic cells, Immunodeficiencies affecting cellular and humoral immunity

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to DOCK2. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to DOCK2. Panel: Primary immunodeficiency disorders

20 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

18 Jun 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

18 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DOCK2 were set to 26083206; 28694805; 29503648

18 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DOCK2 were set to 26083206; 28694805; 29503648

18 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DOCK2 were set to 26083206; 28694805; 29503648

18 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DOCK2 were set to 26083206; 28694805

18 Jun 2018, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DOCK2 were set to 26083206

18 Jun 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DOCK2 were set to Dock 2 deficiency, Immunodeficiency 40; Immunodeficiency 40, 616433

20 Apr 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Expert Review Amber was added to DOCK2. Panel: Primary immunodeficiency disorders

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene DOCK2 were set to Dock 2 deficiency, Immunodeficiency 40

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

DOCK2 was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

DOCK2 was created by Louise Daugherty