ASTN1

astrotactin 1
OMIM: 600904, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ASTN1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 1.3

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), ASTN1-related

    Green ASTN1 in Mendeliome


    Version 2.358

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), ASTN1-related

    Green ASTN1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.30

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), ASTN1-related

    Green ASTN1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.6

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Victorian Clinical Genetics Services
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), ASTN1-related

    Green ASTN1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.61

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), ASTN1-related

    Green ASTN1 in Fetal anomalies


    Version 2.22

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder (MONDO:0700092), ASTN1-related