PanelApp
  1. Genes and Genomic Entities
  2. CSMD1

CSMD1

CUB and Sushi multiple domains 1
OMIM: 608397, ClinGen, DECIPHER

12 panels

Panel Reviews Mode of inheritance Details
12 panels

Green CSMD1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.204

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel

    		•  1 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 1.17

    Component of the following Super Panels:

  • Neuromuscular Superpanel

    		•  1 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 1.410

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

    Green CSMD1 in Mendeliome


    Version 1.4541

    		1 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 1.418

    		1 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 1.121

    Component of the following Super Panels:

  • Myopathy Superpanel
  • Neuromuscular Superpanel

    		•  1 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 1.384

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  1 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 0.592

    		1 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 1.699

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

    Green CSMD1 in Leukodystrophy


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.392

    Component of the following Super Panels:

  • Progressive Neurological Conditions

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

    Green CSMD1 in Fetal anomalies


    Version 1.542

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

    Green CSMD1 in Prepair 1000+


    Level 2: Screening
    Version 2.15

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