ZAP70

zeta chain of T-cell receptor associated protein kinase 70
OMIM: 176947, Gene2Phenotype

4 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 4 panels
Amber ZAP70 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.45	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes SCID Autoimmune disease, multisystem, infantile-onset, 2 617006 Tags watchlist
Amber ZAP70 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.76	review	Not set	Sources Expert Review Amber UKGTN Phenotypes Inflammatory Bowel Disease (Very Early Onset)
Green ZAP70 in COVID-19 research Level 2: Viral research Version 1.146	review	BIALLELIC, autosomal or pseudoautosomal	Sources IUIS Classification February 2018 SCID v1.6 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services Expert Review Green ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 SCID v1.6 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)
Green ZAP70 in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	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 SCID v1.6 Phenotypes Autoimmune disease, multisystem, infantile-onset, 2 Immunodeficiency 48 Severe Combined Immune Deficiency Selective T-cell defect Zap-70 deficiency Combined immunodeficiency Severe combined immunodeficiency (SCID) May have immune dysregulation, autoimmunity Immunodeficiencies affecting cellular and humoral immunity Severe autoimmunity Diseases of Immune Dysregulation