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| BabyScreen+ newborn screening v1.114 | LIG1 | Tommy Li Added phenotypes Immunodeficiency 96, MIM# 619774 for gene: LIG1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2021 | LIG1 | Zornitza Stark Marked gene: LIG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2021 | LIG1 | Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2021 | LIG1 | Zornitza Stark Classified gene: LIG1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2021 | LIG1 | Zornitza Stark Gene: lig1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2020 | LIG1 |
Zornitza Stark gene: LIG1 was added gene: LIG1 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: LIG1. Mode of inheritance for gene: LIG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIG1 were set to 30395541 Phenotypes for gene: LIG1 were set to Immunodeficiency 96, MIM# 619774 Review for gene: LIG1 was set to GREEN Added comment: Established gene-disease association. Onset is generally in early childhood. Presents with recurrent severe infections. Treatment: IVIG, BMT. Non-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile, complete blood count Sources: Expert list |
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