Hereditary neuropathy
Gene: NTRK1
In Bristol two probands confirmed compound heterozygous pathogenic variants. PMID: 28940190 - Bristol paper including known nonsense and novel 9 amino acid in-frame deletion (bi-parental inheritance)Created: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.
Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 29 Apr 2019, 12:53 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Source: G2P and OMIMCreated: 4 May 2016, 8:52 a.m.
Comment on list classification: Promoted from amber to green due to agreement from 3 reviewers.Created: 4 May 2016, 8:50 a.m.
HSNCreated: 9 Dec 2015, 8:49 a.m.
Variants in this GENE are reported as part of current diagnostic practice
HSNCreated: 8 Dec 2015, 3:05 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis for gene: NTRK1 Publications for gene NTRK1 were changed from to 28940190
Source South West GLH was added to NTRK1.
Source NHS GMS was added to NTRK1.
Source London North GLH was added to NTRK1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Phenotypes for NTRK1 were set to Hereditary Neuropathies; Insensitivity to pain, congenital, with anhidrosis
Mode of inheritance for NTRK1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
NTRK1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
NTRK1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory
NTRK1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list,UKGTN,Emory Genetics Laboratory