Hereditary neuropathy
Gene: HINT1
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.
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Is on the Charcot-Marie- Tooth disease type 2 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 1:05 p.m.
Comment on mode of inheritance: Source: reviewers, G2P and OMIM.Created: 4 May 2016, 11:42 a.m.
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers. Is a confirmed DD gene for Neruromyotonia and axonal neuropathy, autosomal recessive.Created: 4 May 2016, 11:41 a.m.
Source NHS GMS was added to HINT1.
Source London North GLH was added to HINT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for HINT1 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for HINT1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
HINT1 was added to Charcot-Marie-Tooth diseasepanel. Sources: Expert list