Genes in panel

Hereditary neuropathy

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

6 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to agreement from 3 reviewers. It is a confirmed DD gene for CONGENITAL INABILITY TO EXPERIENCE PAIN.
Created: 5 May 2016, 9:37 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Episodic pain syndrome, familial, 3, 615552
  • Neuropathy, hereditary sensory and autonomic, type VII, 615548
  • CONGENITAL INABILITY TO EXPERIENCE PAIN
OMIM
604385
Clinvar variants
Variants in SCN11A
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SCN11A.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to SCN11A. Rating Changed from Green List (high evidence) to Green List (high evidence)

5 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

5 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SCN11A were set to Episodic pain syndrome, familial, 3, 615552; Neuropathy, hereditary sensory and autonomic, type VII, 615548; CONGENITAL INABILITY TO EXPERIENCE PAIN

5 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SCN11A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SCN11A was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen