Pain syndromes
Gene: SCN11A
Comment on phenotypes: reformatted phenotype listingCreated: 19 Sep 2017, 11:37 a.m.
Comment on publications: added publications suggested by Arianna TucciCreated: 9 Jul 2017, 5:09 p.m.
hereditary sensory and autonomic neuropathy type VII= Insensitivity to painCreated: 9 Jul 2017, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neuropathy, hereditary sensory and autonomic, type VII; 615548; Episodic pain syndrome, familial, 3; 615552
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Familial episodic pain syndrome; Hereditary sensory and autonomic neuropathy type VII
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gain of function mutations cause congenital insensitivity to pain. Many families described with mutations in this gene and relevant phenotypeCreated: 27 Jun 2017, 12:46 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic pain syndrome, familial, 3 615552; Congenital insensitivity to pain; Familial episodic pain syndrome type III
Publications
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for SCN11A were set to Familial episodic pain syndrome; Hereditary sensory and autonomic neuropathy type VII; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552
Publications for SCN11A were set to 24207120; 24776970; 24036948; 28298626; 27503742; 26645915;28665811; 25316021; 24813307
Phenotypes for SCN11A were set to Familial episodic pain syndrome; Hereditary sensory and autonomic neuropathy type VII;Neuropathy, hereditary sensory and autonomic, type VII; 615548; Episodic pain syndrome, familial, 3; 615552
Publications for SCN11A were set to 24207120; 24776970; 24036948;28298626; 27503742; 26645915
This gene has been classified as Green List (High Evidence).
SCN11A was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene
SCN11A was created by BRIDGE