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| Prepair 1000+ v1.1554 | ZAP70 | Zornitza Stark Marked gene: ZAP70 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1554 | ZAP70 | Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1554 | ZAP70 | Zornitza Stark Phenotypes for gene: ZAP70 were changed from Selective T-cell defect, 269840 (3) to Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006; Immunodeficiency 48 MIM#269840 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1553 | ZAP70 | Zornitza Stark Publications for gene: ZAP70 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1456 | ZAP70 | Michelle Torres Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1456 | ZAP70 |
Michelle Torres commented on gene: ZAP70: The ZAP70 gene is associated with both Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006 and Immunodeficiency 48 MIM#269840. Genotype-phenotype correlation: - ZAP70 LoF variants cause Immunodeficiency 48 MIM#269840 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 resulting in Autoimmune disease, multisystem, infantile-onset, 2. |
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| Prepair 1000+ v1.1456 | ZAP70 | Michelle Torres reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: 8124727, 8202712, 11412303, 26783323, 33628209, 33531381; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 2 MIM#617006, Immunodeficiency 48 MIM#269840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | ZAP70 |
Zornitza Stark gene: ZAP70 was added gene: ZAP70 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ZAP70 were set to Selective T-cell defect, 269840 (3) |
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