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| Adult onset dystonia, chorea or related movement disorder v0.88 | SCN9A | Louise Daugherty edited their review of gene: SCN9A: Added comment: This panel was initially created as a merge of genomic entities from the following Rare Disease 100K panels - Early onset dystonia (v1.76, code 192) - Parkinson Disease and Complex Parkinsonism (v1.64, code 39) - Brain channelopathy (v1.48, code 90) - Structural basal ganglia disorders (v1.10, code 180). This gene was RED and external expert review from South West GLH for GMS Neurology specialist test group for R56 agrees this gene should remain RED; Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.50 | SCN9A | Louise Daugherty reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.49 | SCN9A | Emily Jones reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal extreme pain disorder, 167400, Congenital Indifference to Pain, Paroxysmal Extreme Pain Disorder, Hereditary Sensory Neuropathy, Febrile seizures, familial, 3B, 613863, Dysosteosclerosis, Epilepsy, generalized, with febrile seizures plus, type 7, 613863, Insensitivity to pain, channelopathy-associated, 243000, Erythermalgia, primary, 133020, Erythermalgia, Primary; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.48 | SCN9A | Louise Daugherty Added phenotypes Paroxysmal extreme pain disorder, 167400; Erythermalgia, primary, 133020; Erythermalgia, Primary; Paroxysmal Extreme Pain Disorder; Congenital Indifference to Pain; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Insensitivity to pain, channelopathy-associated, 243000; Dysosteosclerosis; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863 for gene: SCN9A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.47 | SCN9A | Louise Daugherty Source NHS GMS was added to SCN9A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.46 | SCN9A | Louise Daugherty Source South West GLH was added to SCN9A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Adult onset dystonia, chorea or related movement disorder v0.2 | SCN9A |
Ellen McDonagh gene: SCN9A was added gene: SCN9A was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Dysosteosclerosis; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Insensitivity to pain, channelopathy-associated, 243000; Erythermalgia, primary, 133020; Erythermalgia, Primary |
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