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| Genomic newborn screening: ICoNS v0.29 | ZAP70 | Zornitza Stark Marked gene: ZAP70 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.29 | ZAP70 | Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.29 | ZAP70 | Zornitza Stark Classified gene: ZAP70 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.29 | ZAP70 | Zornitza Stark Gene: zap70 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.28 | ZAP70 | Zornitza Stark reviewed gene: ZAP70: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency MIM#176947; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genomic newborn screening: ICoNS v0.28 | ZAP70 |
Lilian Downie gene: ZAP70 was added gene: ZAP70 was added to Genomic newborn screening: ICoNS. Sources: Expert List Mode of inheritance for gene: ZAP70 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZAP70 were set to PMID: 20301777; 32579701 Phenotypes for gene: ZAP70 were set to Immunodeficiency MIM#176947 Review for gene: ZAP70 was set to GREEN Added comment: • Gene disease association evidence • Curation by ClinGen • Treatability and evidence behind that including impact of treatment • Issues with genomic screening (exome/genome/pseudogene etc) • Any variants of interest • Who has excluded it and why • Traditional newborn screening in any jurisdiction Strong gene disease association: definitive by ClinGen 2022 Immunodeficiency characterized by selective T-cell defect Childhood onset, severe (death prior to 2 without treatment) Treatment: Supportive care includes immediate intravenous immunoglobulin (IVIG) and antibacterial, antifungal, antiviral, and Pneumocystis jiroveci prophylaxis to control and reduce the occurrence of infections. Allogeneic HSCT to reconstitute the immune system, preferably prior to the onset of infections. Prevention of secondary complications: Use of irradiated, leukoreduced, cytomegalovirus (CMV)-safe blood products; deferment of immunizations until immune reconstitution; consideration for formula feeds in place of breast feeding until CMV status of mother is known. Symptoms include recurrent infections, including severe lower respiratory infections and oral candidiasis, chronic diarrhea, and failure to thrive. Combined immunodeficiencies such as ZAP-70 deficiency or major histocompatibility complex (MHC) class I and II gene expression deficiency may not be detected with the TREC assay as T-cell development is intact beyond the point of T-cell receptor (TCR) gene recombination (PMID: 32579701) Excluded by BeginNGS? treatability ?now included (on Rx Genes) Sources: Expert List |
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