Hereditary Neuropathy_CMT - isolated

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Definitive gene-disease association classified by ClinGen - https://search.clinicalgenome.org/CCID:005061

"The mechanism for disease is biallelic loss of function, as the mutant proteins are unable to fulfill HINT1's signalling role in the central and peripheral nervous system (PMID: 33404983)"
Created: 9 Apr 2024, 12:08 a.m. | Last Modified: 9 Apr 2024, 12:08 a.m.
Panel Version: 1.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease MONDO:0015626

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

NMAN is an autosomal recessive neurologic disorder characterized by onset in the first or second decade of a peripheral axonal neuropathy predominantly affecting motor more than sensory nerves. The axonal neuropathy is reminiscent of Charcot-Marie-Tooth disease type 2 and distal hereditary motor neuropathy. Individuals with NMAN also have delayed muscle relaxation and action myotonia associated with neuromyotonic discharges on needle EMG resulting from hyperexcitability of the peripheral nerves.

Over 50 families reported.
Created: 4 May 2021, 4:53 a.m. | Last Modified: 4 May 2021, 4:53 a.m.
Panel Version: 0.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200
  • Gamstorp-Wohlfart syndrome, MONDO:0007646
  • HMSN, dHMN/dSMA
OMIM
601314
Clinvar variants
Variants in HINT1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hint1 has been classified as Green List (High Evidence).

4 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HINT1 were changed from HMSN, dHMN/dSMA; Autosomal recessive axonal neuropathy with neuromyotonia to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200; Gamstorp-Wohlfart syndrome, MONDO:0007646; HMSN, dHMN/dSMA

4 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HINT1 were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: HINT1 was added gene: HINT1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HINT1 were set to HMSN, dHMN/dSMA; Autosomal recessive axonal neuropathy with neuromyotonia