Hereditary neuropathy
Gene: SCN11A
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.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
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.
Source NHS GMS was added to SCN11A.
Source London North GLH was added to SCN11A. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
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
Mode of inheritance for SCN11A was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
SCN11A was added to Charcot-Marie-Tooth diseasepanel. Sources: Radboud University Medical Center, Nijmegen