Hereditary Neuropathy_CMT - isolated
Gene: HINT1
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
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
Gene: hint1 has been classified as Green List (High Evidence).
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
Publications for gene: HINT1 were set to
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