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| Severe Paediatric Disorders v0.17 | CACNA1A | Louise Daugherty Mode of inheritance for gene CACNA1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | CACNA1A | Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | CACNA1A | Louise Daugherty Publications for gene CACNA1A were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | CACNA1A | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 for gene: CACNA1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | CACNA1A | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 for gene: CACNA1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | CACNA1A | Louise Daugherty Added phenotypes Epileptic encephalopathy, early infantile, 42, 617106; Spinocerebellar ataxia 6, 183086; Migraine, familial hemiplegic, 1, 141500; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 for gene: CACNA1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | CACNA1A | Louise Daugherty Added phenotypes Spinocerebellar ataxia 6, 183086; Episodic ataxia, type 2, 108500; Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500; Epileptic encephalopathy, early infantile, 42, 617106; Migraine, familial hemiplegic, 1, 141500 for gene: CACNA1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | CACNA1A | Louise Daugherty Source Next Generation Children Project was added to CACNA1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | CACNA1A |
Louise Daugherty Source Expert Review Green was added to CACNA1A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | CACNA1A |
Louise Daugherty gene: CACNA1A was added gene: CACNA1A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CACNA1A was set to |
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