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STRs in panel
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COVID-19 research

Gene: ZAP70

Green List (high evidence)

ZAP70 (zeta chain of T-cell receptor associated protein kinase 70)
EnsemblGeneIds (GRCh38): ENSG00000115085
EnsemblGeneIds (GRCh37): ENSG00000115085
OMIM: 176947, Gene2Phenotype
ZAP70 is in 5 panels

6 reviews

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): ZAP70 .PanelApp HGNC gene symbol check: ZAP70 . IUIS Disease: ZAP-70 deficiency . IUIS Inheritance: AR , .B cells: Normal, .IUIS Other affected cells: N/A. IUIS Associated features: May have immune dysregulation, autoimmunity. IUIS Major category: Immunodeficiencies affecting cellular and humoral immunity. IUIS Subcategory: Combined Immunodeficiencies Generally Less Profound than Severe Combined Immunodeficiency. // OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): ZAP70 .PanelApp HGNC gene symbol check: ZAP70 . IUIS Disease: ZAP-70 combined hypomorphic and activation mutations . IUIS Inheritance: AR (LOF/GOF) , .B cells: Normal or decreased , .IUIS Other affected cells: N/A. IUIS Associated features: Severe autoimmunity . IUIS Major category: Diseases of Immune Dysregulation. IUIS Subcategory: Autoimmunity with or without Lymphoproliferation
Created: 2 Jul 2018, 11:04 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: ZAP70, PanelApp HGNC gene symbol check: ZAP70, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Combined immunodeficiencies / Combined immunodeficiency (CID) / Combined immunodeficiency; Combined immunodeficiencies / Severe combined immunodeficiency (SCID) / Severe combined immunodeficiency (SCID)
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: ZAP70, GRID_Gene_Symbol: ZAP70, GRID_Transcript_ENS_Community submitted: ENST00000264972, GRID_Transcript_RefSeq: NM_001079.3, GRID_Transcript_ENS_used_on_Production: ENST00000264972
Created: 17 Apr 2018, 12:12 p.m.

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

Sophie Hambleton (Newcastle University)

Green List (high evidence)

Peter Arkwright (Royal Manchester Foundation Trust)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from amber to green due to agreement from 3 reviewers.
Created: 20 May 2016, 2:13 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Selective T-cell defect
  • Combined immunodeficiency
  • Autoimmune disease, multisystem, infantile-onset, 2
  • Immunodeficiency 48
  • Severe Combined Immune Deficiency
  • Diseases of Immune Dysregulation
  • Immunodeficiencies affecting cellular and humoral immunity
  • Severe autoimmunity
  • Zap-70 deficiency
  • May have immune dysregulation, autoimmunity
  • Severe combined immunodeficiency (SCID)
OMIM
176947
Clinvar variants
Variants in ZAP70
Penetrance
None
Panels with this gene

History Filter Activity

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ZAP70 was added gene: ZAP70 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,GOSH PID v.8.0,London North GLH,SCID v1.6,IUIS Classification February 2018 Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZAP70 were set to Selective T-cell defect; Combined immunodeficiency; Autoimmune disease, multisystem, infantile-onset, 2; Immunodeficiency 48; Severe Combined Immune Deficiency; Diseases of Immune Dysregulation; Immunodeficiencies affecting cellular and humoral immunity; Severe autoimmunity; Zap-70 deficiency; May have immune dysregulation, autoimmunity; Severe combined immunodeficiency (SCID)