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COVID-19 research

Gene: DOCK8

Green List (high evidence)

DOCK8 (dedicator of cytokinesis 8)
EnsemblGeneIds (GRCh38): ENSG00000107099
EnsemblGeneIds (GRCh37): ENSG00000107099
OMIM: 611432, Gene2Phenotype
DOCK8 is in 14 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
  • Combined immunodeficiency
  • Hyper-IgE recurrent infection syndrome, autosomal recessive
  • Hyper IgE syndrome (HIES)
  • Immunodeficiencies affecting cellular and humoral immunity
  • Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis
  • Hyper-IgE recurrent infection syndrome
  • impaired T cell function, Atopy, cutaneous viral infections
OMIM
611432
Clinvar variants
Variants in DOCK8
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: DOCK8 was added gene: DOCK8 was added to Viral susceptibility. Sources: Expert Review Green,Combined B and T cell defect v1.12,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: DOCK8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOCK8 were set to 25724123; 19776401; 20004785; 25627830 Phenotypes for gene: DOCK8 were set to Combined immunodeficiency; Hyper-IgE recurrent infection syndrome, autosomal recessive; Hyper IgE syndrome (HIES); Immunodeficiencies affecting cellular and humoral immunity; Low NK cells with poor function, eosinophilia, recurrent infections, cutaneous viral, fungal and staphylococcal infections, severe atopy, cancer diathesis; Hyper-IgE recurrent infection syndrome; impaired T cell function, Atopy, cutaneous viral infections