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| Severe Paediatric Disorders v0.17 | CHRNA1 | Louise Daugherty Mode of inheritance for gene CHRNA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | CHRNA1 | Louise Daugherty reviewed gene: CHRNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | CHRNA1 | Louise Daugherty Publications for gene CHRNA1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | CHRNA1 | Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | CHRNA1 | Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | CHRNA1 | Louise Daugherty Added phenotypes Multiple pterygium syndrome, lethal type, 253290; Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462 for gene: CHRNA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | CHRNA1 | Louise Daugherty Added phenotypes Myasthenic syndrome, congenital, 1B, fast-channel, 608930; Myasthenic syndrome, congenital, 1A, slow-channel, 601462; Multiple pterygium syndrome, lethal type, 253290 for gene: CHRNA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | CHRNA1 | Louise Daugherty Source Next Generation Children Project was added to CHRNA1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | CHRNA1 |
Louise Daugherty Source Expert Review Green was added to CHRNA1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | CHRNA1 |
Louise Daugherty gene: CHRNA1 was added gene: CHRNA1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CHRNA1 was set to |
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