Pain syndromes

Gene: SCN11A

Green List (high evidence)

SCN11A (sodium voltage-gated channel alpha subunit 11)
EnsemblGeneIds (GRCh38): ENSG00000168356
EnsemblGeneIds (GRCh37): ENSG00000168356
OMIM: 604385, Gene2Phenotype
SCN11A is in 10 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: reformatted phenotype listing
Created: 19 Sep 2017, 11:37 a.m.
Comment on publications: added publications suggested by Arianna Tucci
Created: 9 Jul 2017, 5:09 p.m.
hereditary sensory and autonomic neuropathy type VII= Insensitivity to pain
Created: 9 Jul 2017, 4:30 p.m.

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

Phenotypes
Neuropathy, hereditary sensory and autonomic, type VII; 615548; Episodic pain syndrome, familial, 3; 615552

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

Phenotypes
Familial episodic pain syndrome; Hereditary sensory and autonomic neuropathy type VII

Publications

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

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Gain of function mutations cause congenital insensitivity to pain. Many families described with mutations in this gene and relevant phenotype
Created: 27 Jun 2017, 12:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic pain syndrome, familial, 3 615552; Congenital insensitivity to pain; Familial episodic pain syndrome type III

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Familial episodic pain syndrome
  • Hereditary sensory and autonomic neuropathy type VII
  • Neuropathy, hereditary sensory and autonomic, type VII, 615548
  • Episodic pain syndrome, familial, 3, 615552
OMIM
604385
Clinvar variants
Variants in SCN11A
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 SCN11A were set to Familial episodic pain syndrome; Hereditary sensory and autonomic neuropathy type VII; Neuropathy, hereditary sensory and autonomic, type VII, 615548; Episodic pain syndrome, familial, 3, 615552

9 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

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

9 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for SCN11A were set to Familial episodic pain syndrome; Hereditary sensory and autonomic neuropathy type VII;Neuropathy, hereditary sensory and autonomic, type VII; 615548; Episodic pain syndrome, familial, 3; 615552

9 Jul 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for SCN11A were set to 24207120; 24776970; 24036948;28298626; 27503742; 26645915

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)

SCN11A was added to Pain syndromespanel. Sources: BRIDGE Study Tier 1 Gene

9 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

SCN11A was created by BRIDGE