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22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss
ISCA-37446-Loss 2
22q11.2 recurrent (DGS/VCFS) region (proximal, A-B) (includes TBX1) Loss
ISCA-37433-Loss 3

Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DOCK8

DOCK8 (dedicator of cytokinesis 8)
EnsemblGeneIds (GRCh38): ENSG00000107099
EnsemblGeneIds (GRCh37): ENSG00000107099
OMIM: 611432, Gene2Phenotype
DOCK8 is in 12 panels

7 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: 2.245

The following PubMed IDs were added to entity DOCK8: 25724123;25627830;19776401;20004785. These publications have been associated with OMIM phenotype MIM#243700, which is listed for this entity, 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

Created: 13 Oct 2020, 9:36 a.m.
Last Modified: 13 Oct 2020, 9:36 a.m.
Panel version: 2.208

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

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

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.

Created: 17 Apr 2018, 12:12 p.m.

Panel version: 1.94

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Combined B and T cell defect panel version 0

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.

Created: 3 Jun 2016, 12:53 p.m.

Panel version: Imported from Combined B and T cell defect panel version 0.23

William Rae (University Hospital Southampton NHS Foundation Trust)

Green List (high evidence)

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

Created: 29 Apr 2016, 3:28 p.m.

Panel version: Imported from Combined B and T cell defect panel version 0.12

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
ESID Registry 20171117
GRID V2.0
GOSH PID v.8.0
Combined B and T cell defect v1.12

Phenotypes

Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700
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

14 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: dock8 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 DOCK8. Publications for gene DOCK8 were updated from 19776401; 20004785; 25627830; 25724123 to 25724123; 20004785; 25627830; 19776401 Rating Changed from Green List (high evidence) to Red List (low evidence)

22 Sep 2020, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: DOCK8 were changed from 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 to Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700; 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

17 Sep 2019, Gel status: 3