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| Paroxysmal central nervous system disorders v0.150 | SCN9A | Rebecca Foulger Marked gene: SCN9A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.150 | SCN9A | Rebecca Foulger Gene: scn9a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.72 | SCN9A | Rebecca Foulger Classified gene: SCN9A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.72 | SCN9A | Rebecca Foulger Added comment: Comment on list classification: Demoted SCN9A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.72 | SCN9A | Rebecca Foulger Gene: scn9a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.27 | SCN9A | Rebecca Foulger Source NHS GMS was added to SCN9A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.26 | SCN9A | Rebecca Foulger commented on gene: SCN9A: 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 | SCN9A | James Polke reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.24 | SCN9A | Rebecca Foulger Source London North GLH was added to SCN9A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.23 | SCN9A | Rebecca Foulger reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.22 | SCN9A | Tracy Lester reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal extreme pain disorder, 167400, Erythermalgia, primary, AD, 133020, Small fiber neuropathy,133020, Febrile seizures, familial, 3B, 613863, Epilepsy, generalized, with febrile seizures plus, type 7, 613863, Insensitivity to pain, congenital, 243000, HSAN2D, autosomal recessive, AR, 243000; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.21 | SCN9A | Rebecca Foulger Source Wessex and West Midlands GLH was added to SCN9A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.3 | SCN9A | Ellen McDonagh Added phenotypes Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Erythermalgia, primary, AD, 133020; Paroxysmal extreme pain disorder, AD, 167400; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Insensitivity to pain, channelopathy-associated, 243000; Insensitivity to pain, congenital, AR, 243000; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; HSAN2D, autosomal recessive, AR, 243000; Small fiber neuropathy, AD,133020; Erythermalgia, primary, 133020; Erythermalgia, Primary for gene: SCN9A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paroxysmal central nervous system disorders v0.2 | SCN9A |
Ellen McDonagh gene: SCN9A was added gene: SCN9A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SCN9A were set to 17145499; 16392115; 17679678; 17470132; 24813307; 28665811; 25316021; 16216943; 1536168; 24817410; 15958509; 28235406; 23596073; 17167479; 14985375 Phenotypes for gene: SCN9A were set to Paroxysmal extreme pain disorder, 167400; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Erythermalgia, primary, AD, 133020; Paroxysmal extreme pain disorder, AD, 167400; Hereditary Sensory Neuropathy; Febrile seizures, familial, 3B, 613863; Insensitivity to pain, channelopathy-associated, 243000; Insensitivity to pain, congenital, AR, 243000; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Dysosteosclerosis; HSAN2D, autosomal recessive, AR, 243000; Small fiber neuropathy, AD,133020; Erythermalgia, primary, 133020; Erythermalgia, Primary |
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