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| Congenital Myasthenia v1.9 | COLQ |
Zornitza Stark Tag treatable tag was added to gene: COLQ. Tag clinical trial tag was added to gene: COLQ. |
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| Congenital Myasthenia v0.47 | COLQ | Zornitza Stark Marked gene: COLQ as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.47 | COLQ | Zornitza Stark Gene: colq has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.47 | COLQ | Zornitza Stark Phenotypes for gene: COLQ were changed from Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency to Myasthenic syndrome, congenital, 5, MIM# 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.46 | COLQ | Zornitza Stark Publications for gene: COLQ were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.45 | COLQ | Zornitza Stark reviewed gene: COLQ: Rating: GREEN; Mode of pathogenicity: None; Publications: 9689136, 9758617, 11865139, 32978031, 31831253; Phenotypes: Myasthenic syndrome, congenital, 5, MIM# 603034; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital Myasthenia v0.0 | COLQ |
Bryony Thompson gene: COLQ was added gene: COLQ was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034; Congenital myasthenic syndrome with endplate acetylcholinesterase deficiency |
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