Combined Immunodeficiency
Gene: ZAP70

ZAP70 (zeta chain of T-cell receptor associated protein kinase 70)
EnsemblGeneIds (GRCh38): ENSG00000115085
EnsemblGeneIds (GRCh37): ENSG00000115085
OMIM: 176947, Gene2Phenotype
ZAP70 is in 9 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

ZAP70 LoF variants cause combined immunodeficiency characterised by low CD8 number, normal CD4 number but with poor function. ZAP70 combined hypomorphic and activating mutations cause decreased CD8, normal or decreased CD4 cells and severe autoimmunity.
Created: 3 Apr 2020, 3:16 a.m. | Last Modified: 3 Apr 2020, 3:16 a.m.

Panel Version: 0.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 48, MIM# 269840; Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006

Publications

Mode of pathogenicity
Other

Created: 3 Apr 2020, 3:16 a.m.
Last Modified: 3 Apr 2020, 3:16 a.m.
Panel version: 0.176

Details

Mode of Inheritance

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

OMIM

176947

Clinvar variants

Variants in ZAP70

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene