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BabyScreen+ newborn screening v0.102 AP4E1 Zornitza Stark Marked gene: AP4E1 as ready
BabyScreen+ newborn screening v0.102 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.102 AP4E1 Zornitza Stark Classified gene: AP4E1 as Red List (low evidence)
BabyScreen+ newborn screening v0.102 AP4E1 Zornitza Stark Gene: ap4e1 has been classified as Red List (Low Evidence).
BabyScreen+ newborn screening v0.101 AP4E1 Zornitza Stark reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive, MIM# 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
BabyScreen+ newborn screening v0.0 AP4E1 Zornitza Stark gene: AP4E1 was added
gene: AP4E1 was added to gNBS. Sources: Expert Review,Expert Review Green
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to 20972249; 32979048; 23472171; 21620353; 21937992
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive, MIM# 613744