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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 9 panels

1 review

Michelle Torres (Victorian Clinical Genetics Services)

Green List (high evidence)

The ZAP70 gene is associated with both Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 and Immunodeficiency 48 MIM#269840.

Genotype-phenotype correlation:
- ZAP70 LoF variants cause Immunodeficiency 48 MIM#269840 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 resulting in Autoimmune disease, multisystem, infantile-onset, 2.
Created: 5 Feb 2025, 1:06 a.m. | Last Modified: 5 Feb 2025, 1:06 a.m.
Panel Version: 1.1456

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006
  • Immunodeficiency 48 MIM#269840
OMIM
176947
Clinvar variants
Variants in ZAP70
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: zap70 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZAP70 were changed from Selective T-cell defect, 269840 (3) to Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006; Immunodeficiency 48 MIM#269840

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZAP70 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZAP70 was added gene: ZAP70 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZAP70 were set to Selective T-cell defect, 269840 (3)