Hereditary neuropathy
Gene: HINT1

HINT1 (histidine triad nucleotide binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000169567
EnsemblGeneIds (GRCh37): ENSG00000169567
OMIM: 601314, Gene2Phenotype
HINT1 is in 5 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.

Created: 29 Apr 2019, 9:26 a.m.

Panel version: 1.80

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

Green List (high evidence)

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

Created: 29 Apr 2019, 9:20 a.m.

Panel version: 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

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.

Created: 4 May 2016, 11:41 a.m.

Panel version: 0.79

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
London North GLH
Expert Review Green
Expert list

OMIM

601314

Clinvar variants

Variants in HINT1

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 HINT1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to HINT1. Rating Changed from Green List (high evidence) to Green List (high evidence)

10 Jun 2016, Gel status: 4