NTRK2

neurotrophic receptor tyrosine kinase 2
OMIM: 600456, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 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 4.10
Latest signed off version: v4.0 (22 Mar 2023)

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 3.10
Latest signed off version: v3.0 (22 Mar 2023)

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 3.136
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Epilepsy and intellectual disability
Red NTRK2 in Rare syndromic craniosynostosis or isolated multisuture synostosis

Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.178
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • Obesity, hyperphagia, and developmental delay, OMIM:613886
  • craniosynostosis, MONDO:0015469
Green NTRK2 in DDG2P


Version 3.79
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Epilepsy and intellectual disability
    Red NTRK2 in Monogenic hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 4.25
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Not set
    Sources
    • Expert
    Green NTRK2 in Early onset or syndromic epilepsy

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • 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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • 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 1.182

    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