HINT1

histidine triad nucleotide binding protein 1
OMIM: 601314, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red HINT1 in Fetal anomalies


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE

Green HINT1 in DDG2P


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NEUROMYOTONIA AND AXONAL NEUROPATHY, AUTOSOMAL RECESSIVE 137200

Green HINT1 in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.368

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Expert list

Amber HINT1 in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Neuromyotonia and axonal neuropathy, autosomal recessive, 137200

Green HINT1 in Hereditary neuropathy NOT PMP22 copy number


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH