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Newborns main panel

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 4 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
ZAP70 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Immunodeficiency 48, severe combined
OMIM
176947
Clinvar variants
Variants in ZAP70
Penetrance
None
Panels with this gene

History Filter Activity

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ZAP70 were changed from Immunodeficiency 48 to Immunodeficiency 48, severe combined

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 48 for gene: ZAP70

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 48 for gene: ZAP70

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 48 for gene: ZAP70

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ZAP70. Added phenotypes Immunodeficiency 48 for gene: ZAP70 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to ZAP70. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodeficiency 48 for gene: ZAP70

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: ZAP70 was added gene: ZAP70 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal