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| BabyScreen+ newborn screening v1.114 | BCHE | Tommy Li Added phenotypes Butyrylcholinesterase deficiency, MIM# 617936 for gene: BCHE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.585 | BCHE | Zornitza Stark Marked gene: BCHE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.585 | BCHE | Zornitza Stark Gene: bche has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.585 | BCHE |
Zornitza Stark Tag for review was removed from gene: BCHE. Tag pharmacogenomic tag was added to gene: BCHE. |
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| BabyScreen+ newborn screening v0.585 | BCHE |
Zornitza Stark changed review comment from: Well established gene-disease association. Individuals are asymptomatic unless exposed to triggering agents. Consider as a separate pharmacogenomic offering? For review.; to: Well established gene-disease association. Individuals are asymptomatic unless exposed to triggering agents. Consider as a separate pharmacogenomic offering? Group review: preventative intervention available by placing alerts in medical records. |
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| BabyScreen+ newborn screening v0.585 | BCHE | Zornitza Stark edited their review of gene: BCHE: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.286 | BCHE | Zornitza Stark Tag for review tag was added to gene: BCHE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.286 | BCHE | Zornitza Stark reviewed gene: BCHE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Butyrylcholinesterase deficiency, MIM# 617936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.266 | BCHE | John Christodoulou reviewed gene: BCHE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | BCHE |
Zornitza Stark gene: BCHE was added gene: BCHE was added to gNBS. Sources: Expert list,Expert Review Green Mode of inheritance for gene: BCHE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCHE were set to Butyrylcholinesterase deficiency, MIM# 617936 |
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