NTRK1

neurotrophic receptor tyrosine kinase 1
OMIM: 191315, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels

Green NTRK1 in Familial dysautonomia


Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Insensitivity to pain, congenital, with anhidrosis 256800

Red NTRK1 in Multiple endocrine tumours

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Insensitivity to pain, congenital, with anhidrosis, 256800
  • Medullary thyroid carcinoma, familial, 155240

Red NTRK1 in Autism


Version 0.20

review Not set
Sources
  • Expert Review Red
  • SFARI

Green NTRK1 in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Hereditary sensory neuropathy type IV
  • HSAN 4
  • Insensitivity to pain, congenital, with anhidrosis, 256800

Red NTRK1 in Paroxysmal central nervous system disorders


Version 1.10
Signed off v.1.2 on 27 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • HSAN 4
  • Hereditary sensory neuropathy type IV
  • Insensitivity to pain, congenital, with anhidrosis, 256800

Red NTRK1 in Fetal anomalies


Version 1.179
Signed off v.1.92 on 21 Aug 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS

Green NTRK1 in DDG2P


Version 2.18
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CONGENITAL INSENSITIVITY TO PAIN WITH ANHIDROSIS 256800

    Green NTRK1 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    Phenotypes
    • Hereditary Neuropathies
    • Insensitivity to pain, congenital, with anhidrosis

    Green NTRK1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Insensitivity to pain, congenital, with anhidrosis, 256800

    Green NTRK1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Neuropathies
    • Insensitivity to pain, congenital, with anhidrosis

    Green NTRK1 in Severe Paediatric Disorders


    Version 1.43

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Insensitivity to pain, congenital, with anhidrosis, 256800
    • Medullary thyroid carcinoma, familial, 155240