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Hereditary neuropathy NOT PMP22 copy number

Gene: HINT1

Green List (high evidence)

HINT1 (histidine triad nucleotide binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000169567
EnsemblGeneIds (GRCh37): ENSG00000169567
OMIM: 601314, Gene2Phenotype
HINT1 is in 6 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)

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

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
BIALLELIC, autosomal or pseudoautosomal

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

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

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
OMIM
601314
Clinvar variants
Variants in HINT1
Penetrance
None
Panels with this gene

History Filter Activity

5 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: HINT1 was added gene: HINT1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal