Pain syndromes
Gene: SCN10A
Comment on phenotypes: reformatted phenotype listingCreated: 19 Sep 2017, 11:36 a.m.
Comment on publications: added publications suggested by Arianna Tucci 24776970; 25250524; 27598514Created: 9 Jul 2017, 5:07 p.m.
Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities PMID:23115331. Only two unrelated (3 reported but 2 related). New publications confirm this is green status gene.PMID:286658112481330725316021Created: 9 Jul 2017, 4:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Episodic pain syndrome, familial, 2; 615551; Painful small fibre neuropathy; SFN
Publications
Mutations have been described in patients presenting with a range of pain sydromes including: Painful small fiber neuropathy with gastroparesis (PMID 26711856); Erythromelalgia (PMID: 27598514); painful neuropathies (PMID 25250524; 24776970)Created: 27 Jun 2017, 12:26 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Episodic pain syndrome, familial, 2 615551; Small fibre neuropathy
Publications
19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Phenotypes for SCN10A were set to Familial episodic pain syndrome-2; Episodic pain syndrome, familial, 2, 615551; Painful small fibre neuropathy; SFN;Small fibre neuropathy
Phenotypes for SCN10A were set to Familial episodic pain syndrome-2; Episodic pain syndrome, familial, 2, 615551; Painful small fibre neuropathy; SFN
Publications for SCN10A were set to 24006052; 23115331; 26711856; 24776970; 25250524; 27598514;28665811; 24813307; 25316021
Phenotypes for SCN10A were set to Familial episodic pain syndrome-2;Episodic pain syndrome, familial, 2; 615551; Painful small fibre neuropathy; SFN
Publications for SCN10A were set to 24006052; 23115331; 26711856;24776970; 25250524; 27598514
This gene has been classified as Green List (High Evidence).
SCN10A was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene
SCN10A was created by BRIDGE