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BabyScreen+ newborn screening v0.1679 | CLPP |
Zornitza Stark Tag treatable tag was added to gene: CLPP. Tag metabolic tag was added to gene: CLPP. |
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BabyScreen+ newborn screening v0.654 | CLPP | Zornitza Stark Marked gene: CLPP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.654 | CLPP | Zornitza Stark Gene: clpp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.654 | CLPP | Zornitza Stark reviewed gene: CLPP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 3, MIM# 614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.0 | LPP |
Zornitza Stark gene: LPP was added gene: LPP was added to gNBS. Sources: Expert Review Red,BabySeq Category C gene Mode of inheritance for gene: LPP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: LPP were set to Tetralogy of Fallot |
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BabyScreen+ newborn screening v0.0 | CLPP |
Zornitza Stark gene: CLPP was added gene: CLPP was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene Mode of inheritance for gene: CLPP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CLPP were set to 25254289; 27087618; 27899912; 23541340 Phenotypes for gene: CLPP were set to Perrault syndrome 3, MIM# 614129 |