CSMD2

CUB and Sushi multiple domains 2
OMIM: 608398, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red CSMD2 in Mendeliome


Version 1.3050

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Focal epilepsy - MONDO:0005384, CSMD1-related

Red CSMD2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.196

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Focal epilepsy - MONDO:0005384, CSMD2-related

    Red CSMD2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.288

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Focal epilepsy - MONDO:0005384, CSMD2-related