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| Paroxysmal central nervous system disorders v0.131 | SCN1A | Rebecca Foulger Marked gene: SCN1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.131 | SCN1A | Rebecca Foulger Gene: scn1a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.131 | SCN1A | Rebecca Foulger Phenotypes for gene: SCN1A were changed from Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3 to Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208; Epilepsy, generalized, with febrile seizures plus, type 2, 604403; Migraine, familial hemiplegic, 3, 609634; several epilepsy, convulsion and migraine disorders | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.130 | SCN1A | Rebecca Foulger Mode of inheritance for gene: SCN1A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | SCN1A | Rebecca Foulger Source NHS GMS was added to SCN1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | SCN1A | Rebecca Foulger commented on gene: SCN1A: Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.25 | SCN1A | James Polke reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | SCN1A | Rebecca Foulger Source London North GLH was added to SCN1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | SCN1A | Rebecca Foulger reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | SCN1A | Tracy Lester reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), 607208, Epilepsy, generalized, with febrile seizures plus, type 2, 604403, Migraine, familial hemiplegic, 3, 609634; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | SCN1A | Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.3 | SCN1A | Ellen McDonagh Added phenotypes Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3 for gene: SCN1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | SCN1A |
Ellen McDonagh gene: SCN1A was added gene: SCN1A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN1A were set to 16054936; 19332696 Phenotypes for gene: SCN1A were set to Dravet syndrome; several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3 |
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