| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| BabyScreen+ newborn screening v0.2014 | ITK | Zornitza Stark Marked gene: ITK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2014 | ITK | Zornitza Stark Gene: itk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2014 | ITK | Zornitza Stark Classified gene: ITK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2014 | ITK | Zornitza Stark Gene: itk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2013 | ITK |
Zornitza Stark gene: ITK was added gene: ITK was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: ITK. Mode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, MIM# 613011 Review for gene: ITK was set to GREEN Added comment: 7 individuals from 5 unrelated families reported homozygous (missense/ nonsense) ITK variants consistent with Lymphoproliferative syndrome phenotype. Triggered by EBV infection. Two ITK-deficient mouse models demonstrated reduced T cells (CD4+), causing decreased CD4 to CD8 ratio. Patients displayed early onset of features typically including fever, lymphadenopathy, autoimmune disorders, low immunoglobulins and high EBV viral load. Fatal without BMT. Non-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile. Sources: Expert list |
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