NPRL2

NPR2 like, GATOR1 complex subunit
OMIM: 607072, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green NPRL2 in Tuberous Sclerosis_Focal Cortical Dysplasia_Hemimegalencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.48

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Epilepsy, familial focal, with variable foci 2- MIM#617116

    Green NPRL2 in Mendeliome


    Version 1.1902

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Epilepsy, familial focal, with variable foci 2, MIM# 617116
    • focal seizures
    • frontal lobe epilepsy
    • nocturnal frontal lobe epilepsy
    • temporal lobe epilepsy
    • focal cortical dysplasia

    Green NPRL2 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
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Epilepsy, familial focal, with variable foci 2 617116
    • focal seizures
    • frontal lobe epilepsy
    • nocturnal frontal lobe epilepsy
    • temporal lobe epilepsy
    • focal cortical dysplasia

    Green NPRL2 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Epilepsy, familial focal, with variable foci 2 - MIM#617116

    Green NPRL2 in Focal Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.14

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • GREP
    • Expert Review Green
    Phenotypes
    • Epilepsy, familial focal, with variable foci 2, 617116