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| BabyScreen+ newborn screening v1.114 | CHRNB1 | Tommy Li Added phenotypes Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314 for gene: CHRNB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.44 | CHRNB1 | Zornitza Stark Marked gene: CHRNB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.44 | CHRNB1 | Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.44 | CHRNB1 | Zornitza Stark Classified gene: CHRNB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.44 | CHRNB1 | Zornitza Stark Gene: chrnb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v1.43 | CHRNB1 |
Zornitza Stark Tag treatable tag was added to gene: CHRNB1. Tag neurological tag was added to gene: CHRNB1. |
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| BabyScreen+ newborn screening v1.43 | CHRNB1 | Zornitza Stark reviewed gene: CHRNB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32895905; Phenotypes: Myasthenic syndrome, slow-channel congenital, 601462 Myasthenic syndrome, congenital, 2A, slow-channel, 616313, Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | CHRNB1 |
Zornitza Stark Source Expert Review Red was added to CHRNB1. Source BabySeq Category C gene was added to CHRNB1. Added phenotypes Congenital myasthenic syndrome for gene: CHRNB1 Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| BabyScreen+ newborn screening v0.0 | CHRNB1 |
Zornitza Stark gene: CHRNB1 was added gene: CHRNB1 was added to gNBS. Sources: BeginNGS,Expert Review Green Mode of inheritance for gene: CHRNB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314 |
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