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| Skeletal muscle channelopathy v0.17 | ADCY5 | Louise Daugherty Publications for gene ADCY5 were changed from to 24700542 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.16 | ADCY5 | Louise Daugherty Source NHS GMS was added to ADCY5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.15 | ADCY5 | James Polke reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: ; Publications: Chen et al 2014 Ann Neurol 75, 542-9 PMID: 24700542; Phenotypes: Dyskinesia, familial, with facial myokymia, 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.14 | ADCY5 |
Louise Daugherty Mode of inheritance for gene ADCY5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Dyskinesia, familial, with facial myokymia, 606703 for gene: ADCY5 |
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| Skeletal muscle channelopathy v0.13 | ADCY5 | Louise Daugherty Source Expert Review Red was added to ADCY5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal muscle channelopathy v0.12 | ADCY5 |
Louise Daugherty gene: ADCY5 was added gene: ADCY5 was added to Myotonia congenita. Sources: London North GLH Mode of inheritance for gene: ADCY5 was set to |
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