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Pain syndromes
Gene: SCN10A

SCN10A (sodium voltage-gated channel alpha subunit 10)
EnsemblGeneIds (GRCh38): ENSG00000185313
EnsemblGeneIds (GRCh37): ENSG00000185313
OMIM: 604427, Gene2Phenotype
SCN10A is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Familial episodic pain syndrome-2 is an autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities. Multiple families, animal model.
Created: 21 May 2021, 9:50 a.m. | Last Modified: 21 May 2021, 9:50 a.m.

Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic pain syndrome, familial, 2, MIM# 615551

Publications

Created: 21 May 2021, 9:50 a.m.
Last Modified: 21 May 2021, 9:50 a.m.
Panel version: 0.22

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Small fibre neuropathy
Episodic pain syndrome, familial, 2, MIM# 615551

OMIM

Clinvar variants

Variants in SCN10A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

21 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn10a has been classified as Green List (High Evidence).

21 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCN10A were changed from Small fibre neuropathy; Painful small fibre neuropathy; SFN; Episodic pain syndrome, familial, 2, 615551; Familial episodic pain syndrome-2 to Small fibre neuropathy; Episodic pain syndrome, familial, 2, MIM# 615551

21 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Small fibre neuropathy; Painful small fibre neuropathy; SFN; Episodic pain syndrome, familial, 2, 615551; Familial episodic pain syndrome-2 for gene: SCN10A

1 Apr 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SCN10A was added gene: SCN10A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN10A were set to 23115331; 26711856; 24776970; 25316021; 25250524; 24006052; 28665811; 27598514; 24813307 Phenotypes for gene: SCN10A were set to Small fibre neuropathy; Painful small fibre neuropathy; SFN; Episodic pain syndrome, familial, 2, 615551; Familial episodic pain syndrome-2