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BabyScreen+ newborn screening v0.1710 | NPC1 |
Zornitza Stark Tag treatable tag was added to gene: NPC1. Tag metabolic tag was added to gene: NPC1. |
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BabyScreen+ newborn screening v0.721 | NPC1 | Zornitza Stark Tag for review was removed from gene: NPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.721 | NPC1 | Zornitza Stark changed review comment from: For review: check treatment available locally; to: For review: check treatment available locally. Done. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.719 | NPC1 | John Christodoulou reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568, PMID: 30732631; Phenotypes: hepatosplenomegaly, cholestatic jaundice, gaze palsy, ID, dystonia, dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.451 | NPC1 | Zornitza Stark Marked gene: NPC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.451 | NPC1 | Zornitza Stark Gene: npc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.451 | NPC1 | Zornitza Stark Publications for gene: NPC1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.450 | NPC1 | Zornitza Stark Tag for review tag was added to gene: NPC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.450 | NPC1 | Zornitza Stark reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease, MIM# 257220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.274 | NPC1 | David Amor reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29625568; Phenotypes: Niemann-Pick disease, type C, NPC1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
BabyScreen+ newborn screening v0.0 | NPC1 |
Zornitza Stark gene: NPC1 was added gene: NPC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, MIM#257220 |