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BabyScreen+ newborn screening v0.458 | NPHP4 | Zornitza Stark Marked gene: NPHP4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.458 | NPHP4 | Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.458 | NPHP4 | Zornitza Stark Phenotypes for gene: NPHP4 were changed from Nephronophthisis to Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.457 | NPHP4 | Zornitza Stark Classified gene: NPHP4 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.457 | NPHP4 | Zornitza Stark Gene: nphp4 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.456 | NPHP4 | Zornitza Stark reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.274 | NPHP4 | David Amor reviewed gene: NPHP4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.0 | NPHP4 |
Zornitza Stark gene: NPHP4 was added gene: NPHP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Nephronophthisis |