Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: DOCK8Comment 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
agree with green geneCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
YES- this is covered on our targeted exomeCreated: 17 Sep 2019, 3:18 p.m. | Last Modified: 17 Sep 2019, 3:18 p.m.
Panel Version: 1.94
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 ImmunodeficiencyCreated: 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: ENST00000453981Created: 17 Apr 2018, 12:12 p.m.
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.
Phenotypes
impaired T cell function, Atopy, cutaneous viral infections,
Gene: dock8 has been classified as Green List (High Evidence).
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)
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
Source NHS GMS was added to DOCK8.
Source North West GLH was added to DOCK8.
Source London North GLH was added to DOCK8.
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.
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
IUIS Classification February 2018 was added to DOCK8. Panel: Primary immunodeficiency disorders
Victorian Clinical Genetics Services was added to DOCK8. Panel: Primary immunodeficiency disorders
Gene: dock8 has been classified as Green List (High Evidence).
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)
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
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
DOCK8 Source: GOSH PID 20171147 was removed from gene: DOCK8
GOSH PID v.8.0 was added to DOCK8. Panel: Primary immunodeficiency disorders
GOSH PID 20171147 was added to DOCK8. Panel: Primary immunodeficiency disorders
DOCK8 was added to Primary immunodeficiency disorders panel. Sources: Expert Review Green, Combined B and T cell defect v1.12
DOCK8 was created by Louise Daugherty