Paroxysmal central nervous system disorders
Gene: SCN9A
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.Created: 9 Sep 2019, 3:26 p.m. | Last Modified: 9 Sep 2019, 3:26 p.m.
Panel Version: 0.72
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.Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23
Not a CNS disorderCreated: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Gene: scn9a has been classified as Red List (Low Evidence).
Gene: scn9a has been classified as Red List (Low Evidence).
Source NHS GMS was added to SCN9A.
Source London North GLH was added to SCN9A.
Source Wessex and West Midlands GLH was added to SCN9A.
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
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