COLGALT1

collagen beta(1-O)galactosyltransferase 1
OMIM: 617531, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green COLGALT1 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
    • Literature
    Phenotypes
    • Brain small vessel disease 3 MIM#618360

    Green COLGALT1 in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Brain small vessel disease 3 MIM#618360

    Amber COLGALT1 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 Amber
    • Expert Review
    • Expert Review Green
    • Other
    Phenotypes
    • Brain small vessel disease 3 MIM#618360

    Green COLGALT1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.308

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Brain small vessel disease 3 MIM#618360

    Green COLGALT1 in Stroke


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Brain small vessel disease 3 MIM#618360

    Green COLGALT1 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Brain small vessel disease 3, MIM# 618360