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BabyScreen+ newborn screening v1.114 KIF1BP Tommy Li Added phenotypes Goldberg-Shprintzen megacolon syndrome for gene: KIF1BP
BabyScreen+ newborn screening v1.114 KIF1B Tommy Li Added phenotypes Charcot-Marie-Tooth disease for gene: KIF1B
BabyScreen+ newborn screening v0.0 KIF1BP Zornitza Stark gene: KIF1BP was added
gene: KIF1BP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KIF1BP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIF1BP were set to Goldberg-Shprintzen megacolon syndrome
BabyScreen+ newborn screening v0.0 KIF1B Zornitza Stark gene: KIF1B was added
gene: KIF1B was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene
Mode of inheritance for gene: KIF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KIF1B were set to Charcot-Marie-Tooth disease