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| Hereditary ataxia with onset in adulthood v2.76 | SCN8A | Arina Puzriakova Publications for gene: SCN8A were set to 26677014 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v2.75 | SCN8A | Arina Puzriakova Phenotypes for gene: SCN8A were changed from epilepsy; paroxysmal kinesigenic dyskinesias; Epileptic encephalopathy 13, 614558; Benign familial infantile seizures 5, 617080; Cognitive impairment with or without cerebellar ataxia, 614306 to Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.9 | SCN8A | Louise Daugherty Added phenotypes Cognitive impairment with or without cerebellar ataxia, 614306; Epileptic encephalopathy 13, 614558; Benign familial infantile seizures 5, 617080 for gene: SCN8A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.8 | SCN8A | Louise Daugherty reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.7 | SCN8A | Tracy Lester reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cognitive impairment with or without cerebellar ataxia, 614306, Epileptic encephalopathy 13, 614558, Benign familial infantile seizures 5, 617080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.2 | SCN8A | Louise Daugherty Source NHS GMS was added to SCN8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v1.1 | SCN8A | Louise Daugherty Source Wessex and West Midlands GLH was added to SCN8A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary ataxia with onset in adulthood v0.2 | SCN8A |
Eleanor Williams gene: SCN8A was added gene: SCN8A was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Brain channelopathy v1.46,Expert Review Green Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN8A were set to 26677014 Phenotypes for gene: SCN8A were set to paroxysmal kinesigenic dyskinesias; epilepsy; Cognitive impairment with or without cerebellar ataxia, 614306 |
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