ECM1

extracellular matrix protein 1
OMIM: 602201, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green ECM1 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 1.96

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Urbach-Wiethe disease, MIM# 247100

    Green ECM1 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Urbach-Wiethe disease #247100

    Green ECM1 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 Green
    • Literature
    Phenotypes
    • Urbach-Wiethe disease, MIM# 247100

    Green ECM1 in Facial papules


    Level 2: Dermatological disorders
    Version 1.0

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • lipoid proteinosis MONDO:0009530