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| BabyScreen+ newborn screening v0.1679 | CHRNE |
Zornitza Stark Tag treatable tag was added to gene: CHRNE. Tag neurological tag was added to gene: CHRNE. |
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| BabyScreen+ newborn screening v0.296 | CHRNE | Zornitza Stark Marked gene: CHRNE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.296 | CHRNE | Zornitza Stark Gene: chrne has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.296 | CHRNE | Zornitza Stark Phenotypes for gene: CHRNE were changed from Congenital myasthenic syndrome, MIM#605809 to Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931; Myasthenic syndrome, slow-channel congenital, 601462; Myasthenic syndrome, congenital, 4A, slow-channel, 605809 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.295 | CHRNE |
Zornitza Stark changed review comment from: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported. Severe disorder, congenital.; to: Well established association with multiple subtypes of congenital myasthenia, both mono- and bi-allelic variants reported. Severe disorder, congenital. Treatment available. |
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| BabyScreen+ newborn screening v0.295 | CHRNE | Zornitza Stark reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 4B, fast-channel, 616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931, Myasthenic syndrome, slow-channel congenital, 601462, Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.266 | CHRNE | John Christodoulou reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | CHRNE |
Zornitza Stark gene: CHRNE was added gene: CHRNE was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Congenital myasthenic syndrome, MIM#605809 |
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