NTRK2

neurotrophic receptor tyrosine kinase 2
OMIM: 600456, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Red NTRK2 in Kleine-Levin syndrome

Level 3: Sleep disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.7

review Unknown
Sources
  • Expert Review Red
  • Emory Genetics Laboratory
Phenotypes
  • Obesity, hyperphagia, and developmental delay, 613886

Green NTRK2 in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 2.49
Latest signed off version: v2.2 (18 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Obesity, hyperphagia, and developmental delay, OMIM:613886

Red NTRK2 in Paroxysmal central nervous system disorders


Version 1.44
Latest signed off version: v1.2 (27 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
  • London North GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Obesity, hyperphagia, and developmental delay, 613886
  • Epileptic encephalopathy, early infantile, 58, 617830

Amber NTRK2 in Fetal anomalies


Version 1.905
Latest signed off version: v1.92 (21 Aug 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epilepsy and intellectual disability

Amber NTRK2 in DDG2P


Version 2.78
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • Epilepsy and intellectual disability

    Red NTRK2 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    review Not set
    Sources
    • Expert

    Green NTRK2 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.572
    Latest signed off version: v2.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 58 (MIM 617830)
    • Obesity, hyperphagia, and developmental delay (MIM 613886)

    Green NTRK2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1677
    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 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Literature
    Phenotypes
    • Epileptic encephalopathy, early infantile, 58, 617830
    • Obesity, hyperphagia, and developmental delay, 613886

    Green NTRK2 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Obesity, hyperphagia, and developmental delay, 613886
    • Epileptic encephalopathy, early infantile, 58, 617830