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Cataract

Gene: ZAP70

Red List (low 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

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

No evidence of cataracts in the context of the immunological conditions associated with this gene.
Created: 7 Apr 2020, 9:53 a.m. | Last Modified: 7 Apr 2020, 9:53 a.m.
Panel Version: 0.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006; Immunodeficiency 48 MIM#269840

Created: 7 Apr 2020, 9:53 a.m.
Last Modified: 7 Apr 2020, 9:53 a.m.
Panel version: 0.101

History Filter Activity

7 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: zap70 has been classified as Red List (Low Evidence).

7 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: zap70 has been classified as Red List (Low Evidence).

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 Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ZAP70 was set to Unknown