CSMD1

CUB and Sushi multiple domains 1
OMIM: 608397, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green CSMD1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.195

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CSMD1 in Arthrogryposis


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.417

    Component of the following Super Panels:

  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CSMD1 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CSMD1 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CSMD1 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.301

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CSMD1 in Muscular dystrophy and myopathy_Paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.85

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CSMD1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CSMD1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CSMD1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CSMD1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.318

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CSMD1 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Red CSMD1 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038
    Tags
    • for review