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| BabyScreen+ newborn screening v1.114 | CHRND | Tommy Li Added phenotypes Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Multiple pterygium syndrome, lethal type, MIM# 253290; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; MONDO:0009668; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323 for gene: CHRND | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.1679 | CHRND |
Zornitza Stark Tag treatable tag was added to gene: CHRND. Tag neurological tag was added to gene: CHRND. |
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| BabyScreen+ newborn screening v0.295 | CHRND |
Zornitza Stark changed review comment from: Well established gene-disease association. Severe disorder, perinatal onset. Treatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors; to: Well established gene-disease association for bi-allelic variants. Single individual only with mono-allelic variant reported. Severe disorder, perinatal onset. Treatment: 3,4-diaminopyridine, acetylcholine-esterase inhibitors |
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| BabyScreen+ newborn screening v0.295 | CHRND | Zornitza Stark Marked gene: CHRND as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.295 | CHRND | Zornitza Stark Gene: chrnd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.295 | CHRND | Zornitza Stark Phenotypes for gene: CHRND were changed from Congenital myasthenic syndrome, MIM#616321 to Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322; Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323; Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321; Multiple pterygium syndrome, lethal type, MIM# 253290; MONDO:0009668 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.294 | CHRND | Zornitza Stark Publications for gene: CHRND were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.293 | CHRND | Zornitza Stark reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: 30808424; Phenotypes: Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322, Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323, Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321, Multiple pterygium syndrome, lethal type, MIM# 253290, MONDO:0009668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.266 | CHRND |
John Christodoulou changed review comment from: congenital myasthenia syndrome anti cholinesterase inhibitors partially effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary; to: congenital myasthenia syndrome anti cholinesterase inhibitors partially effective; 3,4-DAP effective - PMID: 30808424; www.ncbi.nlm.nih.gov/books/NBK1168/#cms.Summary |
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| BabyScreen+ newborn screening v0.266 | CHRND | John Christodoulou reviewed gene: CHRND: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| BabyScreen+ newborn screening v0.0 | CHRND |
Zornitza Stark gene: CHRND was added gene: CHRND was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: CHRND was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRND were set to Congenital myasthenic syndrome, MIM#616321 |
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