INTS8

integrator complex subunit 8
OMIM: 611351, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red INTS8 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 BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572

    Red INTS8 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.65

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572

    Red INTS8 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572

    Red INTS8 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 Red
    • Literature
    Phenotypes
    • ?Neurodevelopmental disorder with cerebellar hypoplasia and spasticity MIM#618572

    Red INTS8 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Neurodevelopmental disorder with cerebellar hypoplasia and spasticity, MIM# 618572

    Red INTS8 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (MIM#618572)