Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Genomic newborn screening: BabyScreen+ v0.1233 | ITGB4 | Zornitza Stark Marked gene: ITGB4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.1233 | ITGB4 | Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.1233 | ITGB4 | Zornitza Stark Phenotypes for gene: ITGB4 were changed from Epidermolysis bullosa, junctional, with pyloric atresia to Epidermolysis bullosa of hands and feet, MIM# 131800; Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650; Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.1232 | ITGB4 | Zornitza Stark Mode of inheritance for gene: ITGB4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.1231 | ITGB4 | Zornitza Stark Classified gene: ITGB4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.1231 | ITGB4 | Zornitza Stark Gene: itgb4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.1230 | ITGB4 | Zornitza Stark reviewed gene: ITGB4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epidermolysis bullosa of hands and feet, MIM# 131800, Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650, Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Genomic newborn screening: BabyScreen+ v0.0 | ITGB4 |
Zornitza Stark gene: ITGB4 was added gene: ITGB4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia |