Disorders of immune dysregulation
Gene: ZAP70
At least 7 cases have been reported with autoimmunity/immune dysregulation and biallelic variants
Sources: Expert listCreated: 18 Mar 2021, 10:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006
Publications
Variants in this GENE are reported as part of current diagnostic practice
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: 11 Mar 2021, 7 a.m. | Last Modified: 11 Mar 2021, 7 a.m.
Panel Version: 0.6660
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
Gene: zap70 has been classified as Green List (High Evidence).
Gene: zap70 has been classified as Green List (High Evidence).
gene: ZAP70 was added gene: ZAP70 was added to Disorders of immune dysregulation. Sources: Expert list Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZAP70 were set to 26783323; 32431715; 32048120 Phenotypes for gene: ZAP70 were set to Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 Review for gene: ZAP70 was set to GREEN gene: ZAP70 was marked as current diagnostic