| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BabyScreen+ newborn screening v0.2017 | JAGN1 | Zornitza Stark Marked gene: JAGN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2017 | JAGN1 | Zornitza Stark Gene: jagn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2017 | JAGN1 | Zornitza Stark Classified gene: JAGN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2017 | JAGN1 | Zornitza Stark Gene: jagn1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.2016 | JAGN1 |
Zornitza Stark gene: JAGN1 was added gene: JAGN1 was added to Baby Screen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: JAGN1. Mode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JAGN1 were set to 25129144 Phenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022 Review for gene: JAGN1 was set to GREEN Added comment: Established gene-disease association. Typically presents in early childhood with severe infections. Treatment: G-CSF, BMT. Non-genetic confirmatory testing: complete blood count, bone marrow aspiration and biopsy Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||