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Pain syndromes
Gene: SCN11A

SCN11A (sodium voltage-gated channel alpha subunit 11)
EnsemblGeneIds (GRCh38): ENSG00000168356
EnsemblGeneIds (GRCh37): ENSG00000168356
OMIM: 604385, Gene2Phenotype
SCN11A is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Familial episodic pain syndrome is an autosomal dominant disorder characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes affecting the upper extremities as well. The pain comes in cycles lasting several days, is exacerbated by fatigue, may be accompanied by sweating, and can be relieved by antiinflammatory medication.
Created: 30 Nov 2021, 2:28 a.m. | Last Modified: 30 Nov 2021, 2:28 a.m.

Panel Version: 0.29

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic pain syndrome, familial, 3, MIM# 615552

Created: 30 Nov 2021, 2:28 a.m.
Last Modified: 30 Nov 2021, 2:28 a.m.
Panel version: 0.29

Teresa Zhao (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 25791876: p.G699R demonstrated GoF alteration in Nav1.9
PMID: 30554136: summary of LP/P variants reported in SCN11A
Created: 30 Nov 2021, 2:09 a.m. | Last Modified: 30 Nov 2021, 2:09 a.m.

Panel Version: 0.28

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

Phenotypes
Familial episodic pain syndrome 3 (MIM#615552); Hereditary sensory and autonomic neuropathy, type VII (MIM#615548)

Publications

PMID: 25791876
PMID: 30554136

Mode of pathogenicity
Other

Created: 30 Nov 2021, 2:09 a.m.
Last Modified: 30 Nov 2021, 2:09 a.m.
Panel version: 0.28

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Episodic pain syndrome, familial, 3, MIM# 615552

OMIM

Clinvar variants

Variants in SCN11A

Penetrance

None

Publications

Mode of Pathogenicity

Other

Panels with this gene

History Filter Activity

30 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: scn11a has been classified as Green List (High Evidence).

30 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SCN11A were changed from Familial episodic pain syndrome; Hereditary sensory and autonomic neuropathy type VII; Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548 to Episodic pain syndrome, familial, 3, MIM# 615552

30 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SCN11A were set to 28298626; 24776970; 25316021; 24207120; 27503742; 24036948; 28665811; 24813307; 26645915

30 Nov 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: SCN11A was changed from to Other

30 Nov 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SCN11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

1 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552; Hereditary sensory and autonomic neuropathy type VII; Familial episodic pain syndrome for gene: SCN11A

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: SCN11A was added gene: SCN11A was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: SCN11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCN11A were set to 28298626; 24776970; 25316021; 24207120; 27503742; 24036948; 28665811; 24813307; 26645915 Phenotypes for gene: SCN11A were set to Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552; Hereditary sensory and autonomic neuropathy type VII; Familial episodic pain syndrome