Paroxysmal central nervous system disorders
Gene: SCN11A
Comment on list classification: Demoted SCN11A from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.Created: 9 Sep 2019, 3:23 p.m. | Last Modified: 9 Sep 2019, 3:23 p.m.
Panel Version: 0.68
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548
Gene: scn11a has been classified as Red List (Low Evidence).
Gene: scn11a has been classified as Red List (Low Evidence).
Source NHS GMS was added to SCN11A.
Source London North GLH was added to SCN11A.
Source Wessex and West Midlands GLH was added to SCN11A.
Added phenotypes Familial episodic pain syndrome; Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Hereditary sensory and autonomic neuropathy type VII for gene: SCN11A
gene: SCN11A was added gene: SCN11A was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: Expert Review Green Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN11A were set to 24776970; 24207120; 27503742; 28665811; 24813307; 24036948; 25316021; 26645915; 28298626 Phenotypes for gene: SCN11A were set to Familial episodic pain syndrome; Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Hereditary sensory and autonomic neuropathy type VII