PanelApp
  1. Genes and Genomic Entities
  2. ZAP70

ZAP70

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

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red ZAP70 in Cataract


Level 2: Ophthalmological disorders
Version 0.375

1 review Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services

Amber ZAP70 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 0.126

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Other
    Phenotypes
    • Autoimmune disease, multisystem, infantile-onset, 2
    • inflammatory colitis

    Green ZAP70 in Mendeliome


    Version 1.3512

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 48, MIM# 269840
    • Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006

    Green ZAP70 in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.138

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Immunodeficiency 48, MIM# 269840
    • Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006

    Green ZAP70 in Disorders of immune dysregulation


    Level 2: Immunological disorders
    Version 1.33

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006

    Green ZAP70 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Selective T-cell defect, 269840 (3)

    Green ZAP70 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • ZAP70-related severe combined immunodeficiency

    Green ZAP70 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006
    • Immunodeficiency 48 MIM#269840

    Green ZAP70 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Immunodeficiency MIM#176947
    Tags
    • treatable
    • immunological