Pain syndromes

Gene: SCN10A

Green List (high evidence)

Comment on phenotypes: reformatted phenotype listing

Created: 19 Sep 2017, 11:36 a.m.

Comment on publications: added publications suggested by Arianna Tucci 24776970; 25250524; 27598514

Created: 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:286658112481330725316021

Created: 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

• 28665811
• 24813307
• 25316021

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Familial episodic pain syndrome-2

Publications

• 24006052
• 23115331
• 26711856

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

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

• 24776970
• 25250524
• 27598514
• 26711856