Combined Immunodeficiency
Gene: ZAP70
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
Publications for gene: ZAP70 were set to
Gene: zap70 has been classified as Green List (High Evidence).
Phenotypes for gene: ZAP70 were changed from to Immunodeficiency 48, MIM# 269840; Autoimmune disease, multisystem, infantile-onset, 2, MIM# 617006
Mode of pathogenicity for gene: ZAP70 was changed from to Other
Mode of inheritance for gene: ZAP70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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