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  3. ZAP70
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Immunological disorders_SuperPanel_PanelAppAustralia

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 4 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006
  • Immunodeficiency 48, MIM# 269840
OMIM
176947
Clinvar variants
Variants in ZAP70
Penetrance
None
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

7 Apr 2020, Gel status: 3

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

Rebecca Foulger (Genomics England curator)

gene: ZAP70 was added gene: ZAP70 was added to Immunological disorders_SuperPanel_PanelAppAustralia. Sources: Melbourne Genomics Health Alliance Immunology Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZAP70 were set to Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006; Immunodeficiency 48, MIM# 269840 Mode of pathogenicity for gene: ZAP70 was set to Other