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BabyScreen+ newborn screening v1.114 CEP83 Tommy Li Added phenotypes Nephronophthisis 18, MIM# 615862; Retinal dystrophy; MONDO:0014374; ID for gene: CEP83
BabyScreen+ newborn screening v0.628 CEP83 Zornitza Stark Marked gene: CEP83 as ready
BabyScreen+ newborn screening v0.628 CEP83 Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.628 CEP83 Zornitza Stark Classified gene: CEP83 as Red List (low evidence)
BabyScreen+ newborn screening v0.628 CEP83 Zornitza Stark Gene: cep83 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.627 CEP83 Zornitza Stark reviewed gene: CEP83: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nephronophthisis 18, MIM# 615862, MONDO:0014374, Retinal dystrophy, ID; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 CEP83 Zornitza Stark gene: CEP83 was added
gene: CEP83 was added to gNBS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP83 were set to 33938610; 24882706
Phenotypes for gene: CEP83 were set to Nephronophthisis 18, MIM# 615862; ID; MONDO:0014374; Retinal dystrophy