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| BabyScreen+ newborn screening v1.114 | GFI1 |
Tommy Li Added phenotypes Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107 for gene: GFI1 Publications for gene GFI1 were updated from 12778173; 20560965; 11810106; 22684987 to 20560965; 12778173; 22684987; 11810106 |
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| BabyScreen+ newborn screening v1.1 | GFI1 |
Zornitza Stark Tag treatable tag was added to gene: GFI1. Tag immunological tag was added to gene: GFI1. |
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| BabyScreen+ newborn screening v0.1960 | GFI1 | Zornitza Stark Marked gene: GFI1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1960 | GFI1 | Zornitza Stark Gene: gfi1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1960 | GFI1 | Zornitza Stark Classified gene: GFI1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1960 | GFI1 | Zornitza Stark Gene: gfi1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1959 | GFI1 |
Zornitza Stark gene: GFI1 was added gene: GFI1 was added to Baby Screen+ newborn screening. Sources: Expert list Mode of inheritance for gene: GFI1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GFI1 were set to 12778173; 20560965; 11810106; 22684987 Phenotypes for gene: GFI1 were set to Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107 Review for gene: GFI1 was set to GREEN Added comment: At least three unrelated families reported, and supportive functional data. Severe congenital immunodeficiency. Treatment: granulocyte colony-stimulating factor (G-CSF), Bone marrow transplant Non-genetic confirmatory testing: FBE. Sources: Expert list |
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