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| BabyScreen+ newborn screening v1.114 | IRF8 | Tommy Li Added phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 for gene: IRF8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.71 | IRF8 | Zornitza Stark Marked gene: IRF8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.71 | IRF8 | Zornitza Stark Gene: irf8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.71 | IRF8 | Zornitza Stark Classified gene: IRF8 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.71 | IRF8 | Zornitza Stark Gene: irf8 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.70 | IRF8 |
Zornitza Stark gene: IRF8 was added gene: IRF8 was added to BabyScreen+ newborn screening. Sources: Expert list treatable, immunological tags were added to gene: IRF8. Mode of inheritance for gene: IRF8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IRF8 were set to Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 Review for gene: IRF8 was set to GREEN Added comment: At least 4 families reported with bi-allelic variants. Gene-disease association also proposed for mono-allelic variants but only two individuals reported. Recurrent infections presenting in infancy. Treatment: BMT Non-genetic confirmatory testing available Sources: Expert list |
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