MAP1B

microtubule associated protein 1B
OMIM: 157129, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green MAP1B in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.189

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
    • Intellectual disability
    • seizures
    • PVNH
    • dysmorphic features
    • Periventricular nodular heterotopia 9, MIM# 618918

    Green MAP1B in Periventricular Grey Matter Heterotopia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.2

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Australian Genomics Health Alliance Brain Malformation Flagship
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Intellectual disability
    • seizures
    • PVNH
    • dysmorphic features
    • Periventricular nodular heterotopia 9, MIM# 618918

    Green MAP1B in Mendeliome


    Version 1.1891

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Intellectual disability
    • seizures
    • PVNH
    • dysmorphic features
    • Periventricular nodular heterotopia 9, MIM# 618918
    • Deafness, autosomal dominant 83, MIM# 619808

    Green MAP1B 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, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Intellectual disability
    • seizures
    • PVNH
    • dysmorphic features
    • Periventricular nodular heterotopia 9, MIM# 618918

    Green MAP1B in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.194

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Deafness, autosomal dominant 83, MIM# 619808

    Green MAP1B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    • Literature
    Phenotypes
    • Intellectual disability
    • seizures
    • PVNH
    • dysmorphic features
    • Periventricular nodular heterotopia 9, MIM# 618918

    Green MAP1B in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Polymicrogyria
    • Periventricular nodular heterotopia 9, MIM# 618918