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Primary immunodeficiency

Gene: DOCK8

Green List (high evidence)

DOCK8 (dedicator of cytokinesis 8)
EnsemblGeneIds (GRCh38): ENSG00000107099
EnsemblGeneIds (GRCh37): ENSG00000107099
OMIM: 611432, Gene2Phenotype
DOCK8 is in 13 panels

6 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

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): DOCK8 .PanelApp HGNC gene symbol check: DOCK8 . IUIS Disease: DOCK8 deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: Low, low CD27+ memory B cells Poor peripheral B cell tolerance., .IUIS Other affected cells: N/A. IUIS Associated features: Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis. 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.
Original metadata downloaded from ESID Registry. ESID_Gene_original: DOCK8, PanelApp HGNC gene symbol check: DOCK8, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency; Other well defined PIDs / Hyper IgE syndromes / Hyper IgE syndrome (HIES)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: DOCK8, GRID_Gene_Symbol: DOCK8, GRID_Transcript_ENS_Community submitted: ENST00000453981, GRID_Transcript_RefSeq: NM_203447.3, GRID_Transcript_ENS_used_on_Production: ENST00000453981
Created: 17 Apr 2018, 12:12 p.m.

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Added by an expert reviewer and rated green by a second. It is a confirmed DD gene for hyperimmunoglobulin E recurrent infection syndrome autosomal recessive. Three unrelated cases reported in OMIM, for multiple variants for Hyper-IgE recurrent infection syndrome, autosomal recessive.
Created: 3 Jun 2016, 12:59 p.m.

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

Phenotypes
impaired T cell function, Atopy, cutaneous viral infections,

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Hyper-IgE recurrent infection syndrome, autosomal recessive
  • Hyper-IgE recurrent infection syndrome
  • impaired T cell function, Atopy, cutaneous viral infections
  • Combined immunodeficiency
  • Hyper IgE syndrome (HIES)
  • Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis
  • Immunodeficiencies affecting cellular and humoral immunity
OMIM
611432
Clinvar variants
Variants in DOCK8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DOCK8.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to DOCK8.

17 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to DOCK8.

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 DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, Hyper-IgE recurrent infection syndrome, impaired T cell function, Atopy, cutaneous viral infections, Combined immunodeficiency, Hyper IgE syndrome (HIES), Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis, 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 DOCK8. 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 DOCK8. Panel: Primary immunodeficiency disorders

13 Jun 2018, Gel status: 4

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: dock8 has been classified as Green List (High Evidence).

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to DOCK8. Panel: Primary immunodeficiency disorders Phenotypes for gene DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, Hyper-IgE recurrent infection syndrome, impaired T cell function, Atopy, cutaneous viral infections, Combined immunodeficiency, Hyper IgE syndrome (HIES)

17 Apr 2018, Gel status: 4

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, Hyper-IgE recurrent infection syndrome, impaired T cell function, Atopy, cutaneous viral infections

17 Apr 2018, Gel status: 4

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

GRID V2.0 was added to DOCK8. Panel: Primary immunodeficiency disorders Phenotypes for gene DOCK8 were set to Hyper-IgE recurrent infection syndrome, autosomal recessive, Hyper-IgE recurrent infection syndrome, impaired T cell function, Atopy, cutaneous viral infections

6 Apr 2018, Gel status: 4

Clear Sources

Louise Daugherty (Genomics England Curator)

DOCK8 Source: GOSH PID 20171147 was removed from gene: DOCK8

6 Apr 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID v.8.0 was added to DOCK8. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GOSH PID 20171147 was added to DOCK8. Panel: Primary immunodeficiency disorders

29 Mar 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

DOCK8 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Combined B and T cell defect v1.12

29 Mar 2018, Gel status: 4

Created

Louise Daugherty (Genomics England Curator)

DOCK8 was created by Louise Daugherty