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  3. ZAP70
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Disorders of immune dysregulation

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

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 7 cases have been reported with autoimmunity/immune dysregulation and biallelic variants
Sources: Expert list
Created: 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

Created: 18 Mar 2021, 10:29 p.m.

Panel version: 0.77

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: 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

Created: 11 Mar 2021, 7 a.m.
Last Modified: 11 Mar 2021, 7 a.m.
Panel version: Imported from Mendeliome panel version 0.6660

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006
OMIM
176947
Clinvar variants
Variants in ZAP70
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

18 Mar 2021, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

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