PanelApp (test)
  1. Genes and Genomic Entities
  2. COLGALT1:Ensemblv90

COLGALT1:Ensemblv90

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

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green COLGALT1 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

Component of the following Super Panels:

  • Progressive Neurological Conditions

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

    Green COLGALT1 in Mendeliome


    Version 1.3802

    		1 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 1.309

    Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews 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 0.334

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions

    		•  1 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 1.38

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

    Green COLGALT1 in Fetal anomalies


    Version 1.482

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

    Green COLGALT1 in Brain Calcification


    Level 2: Neurology and neurodevelopmental disorders
    Version 3.0

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

    Green COLGALT1 in Leukodystrophy - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

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