ZAP70:Ensemblv115

zeta chain of T cell receptor associated protein kinase 70
OMIM: 176947, ClinGen, DECIPHER

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red ZAP70 in Cataract


Level 2: Ophthalmological disorders
Version 1.0

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

Amber ZAP70 in Inflammatory bowel disease


Level 2: Gastroenterological disorders
Version 1.0

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

Green ZAP70 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
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 2.0

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

Green ZAP70 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

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

Green ZAP70 in Additional findings_Paediatric


Level 2: Screening
Version 1.0

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

Green ZAP70 in Prepair 1000+


Level 2: Screening
Version 3.0

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

Green ZAP70 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

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