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 1.15

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 1.13

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 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Green NTRK1 in Pain syndromes

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.10

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 1.17
Latest signed off version: v1.2 (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 1.735
Latest signed off version: v1.92 (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 2.50
Latest signed off version: v2.2 (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 1.417

    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 3.1378
    Latest signed off version: v3.2 (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
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Insensitivity to pain, congenital, with anhidrosis, 256800

    Green NTRK1 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.64
    Latest signed off version: v1.36 (5 Aug 2021)

    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 1.84

    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