TUBGCP2

tubulin gamma complex associated protein 2
Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green TUBGCP2 in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.19

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lissencephaly
    • pachygyria
    • subcortical band heterotopia
    • microcephaly
    • intellectual disability

    Green TUBGCP2 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737
    • Lissencephaly
    • pachygyria
    • subcortical band heterotopia
    • microcephaly
    • intellectual disability

    Green TUBGCP2 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.269

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lissencephaly
    • pachygyria
    • subcortical band heterotopia
    • microcephaly
    • intellectual disability

    Green TUBGCP2 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737

    Green TUBGCP2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Lissencephaly
    • pachygyria
    • subcortical band heterotopia
    • microcephaly
    • intellectual disability

    Green TUBGCP2 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM # 618737