Combined Immunodeficiency

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

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

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

History Filter Activity

11 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ZAP70 were set to

3 Apr 2020, 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).

3 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ZAP70 were changed from to Immunodeficiency 48, MIM# 269840; Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006

3 Apr 2020, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: ZAP70 was changed from to Other

3 Apr 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ZAP70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ZAP70 was added gene: ZAP70 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: ZAP70 was set to Unknown