| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v0.1915 | CD247 | Zornitza Stark Marked gene: CD247 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1915 | CD247 | Zornitza Stark Gene: cd247 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1915 | CD247 | Zornitza Stark Classified gene: CD247 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1915 | CD247 | Zornitza Stark Gene: cd247 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1914 | CD247 |
Zornitza Stark Tag treatable tag was added to gene: CD247. Tag immunological tag was added to gene: CD247. |
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| BabyScreen+ newborn screening v0.1914 | CD247 |
Zornitza Stark gene: CD247 was added gene: CD247 was added to gNBS. Sources: Expert Review Mode of inheritance for gene: CD247 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CD247 were set to 16672702; 17170122 Phenotypes for gene: CD247 were set to Immunodeficiency 25, MIM# 610163 Review for gene: CD247 was set to GREEN Added comment: Two reports in the literature, note additional two reports in ClinVar; functional data. Congenital onset. Absent T cells, resulting in severe immunodeficiency. Treatment: bone marrow transplant. Non-genetic confirmatory testing: T, B and NK cell counts Sources: Expert Review |
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