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| BabyScreen+ newborn screening v0.1450 | RFXAP | Zornitza Stark Marked gene: RFXAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1450 | RFXAP | Zornitza Stark Gene: rfxap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1450 | RFXAP | Zornitza Stark Classified gene: RFXAP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1450 | RFXAP | Zornitza Stark Gene: rfxap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1449 | RFXAP |
Zornitza Stark Tag treatable tag was added to gene: RFXAP. Tag immunological tag was added to gene: RFXAP. |
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| BabyScreen+ newborn screening v0.1449 | RFXAP |
Zornitza Stark gene: RFXAP was added gene: RFXAP was added to gNBS. Sources: Expert Review Mode of inheritance for gene: RFXAP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFXAP were set to Bare lymphocyte syndrome, type II, complementation group D MIM# 209920 Review for gene: RFXAP was set to GREEN Added comment: 9 unique RFXAP variants in 12 unrelated individuals have been reported; one mouse model The most frequent variant is a deletion c. delG484fsX525 which has been identified in 4 individuals of different origins (North African, Turkish and East Asian). Typically presents in infancy with recurrent bacterial infections, severe diarrhoea and failure to thrive. Treatment: BMT. Sources: Expert Review |
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