TNPO2

transportin 2
OMIM: 603002, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green TNPO2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556

Green TNPO2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556

Green TNPO2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556

    Green TNPO2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556

    Green TNPO2 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.235

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM# 619556