Activity
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| Prepair 1000+ v1.961 | CHRNE | Lilian Downie Phenotypes for gene: CHRNE were changed from Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3) to Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809; Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.959 | CHRNE | Lilian Downie Publications for gene: CHRNE were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.942 | CHRNE | Lilian Downie Marked gene: CHRNE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.942 | CHRNE | Lilian Downie Gene: chrne has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.941 | CHRNE | Lilian Downie reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301347; Phenotypes: Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809, Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | CHRNE | Seb Lunke Added phenotypes Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3) for gene: CHRNE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | CHRNE |
Zornitza Stark gene: CHRNE was added gene: CHRNE was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3) |
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