Pain syndromes

Gene: SCN10A

Green List (high evidence)

SCN10A (sodium voltage-gated channel alpha subunit 10)
EnsemblGeneIds (GRCh38): ENSG00000185313
EnsemblGeneIds (GRCh37): ENSG00000185313
OMIM: 604427, Gene2Phenotype
SCN10A is in 6 panels

3 reviews

Louise Daugherty (Genomics England Curator)

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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Familial episodic pain syndrome-2

Publications

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

Arianna Tucci (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Familial episodic pain syndrome-2
  • Episodic pain syndrome, familial, 2, 615551
  • Painful small fibre neuropathy
  • SFN
  • Small fibre neuropathy
OMIM
604427
Clinvar variants
Variants in SCN10A
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Sep 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SCN10A were set to Familial episodic pain syndrome-2; Episodic pain syndrome, familial, 2, 615551; Painful small fibre neuropathy; SFN

9 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SCN10A were set to 24006052; 23115331; 26711856; 24776970; 25250524; 27598514;28665811; 24813307; 25316021

9 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SCN10A were set to Familial episodic pain syndrome-2;Episodic pain syndrome, familial, 2; 615551; Painful small fibre neuropathy; SFN

9 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SCN10A were set to 24006052; 23115331; 26711856;24776970; 25250524; 27598514

9 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

SCN10A was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene

9 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

SCN10A was created by BRIDGE