Hereditary Neuropathy_CMT - isolated
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, 9:49 a.m. | Last Modified: 21 May 2021, 9:49 a.m.

Panel Version: 0.171

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 21 May 2021, 9:49 a.m.
Last Modified: 21 May 2021, 9:49 a.m.
Panel version: 0.171

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

HSAN/SFN
Episodic pain syndrome, familial, 2, 615551

OMIM

604427

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 publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCN10A were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SCN10A was added gene: SCN10A was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SCN10A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN10A were set to HSAN/SFN; Episodic pain syndrome, familial, 2, 615551

Hereditary Neuropathy_CMT - isolated Gene: SCN10A