UGGT1

UDP-glucose glycoprotein glucosyltransferase 1
OMIM: 605897, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green UGGT1 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.210

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation - MONDO:0015286
  • UGGT1-CDG

Green UGGT1 in Congenital Disorders of Glycosylation


Level 2: Metabolic disorders
Version 1.67

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation - MONDO:0015286
    • UGGT1-CDG

    Green UGGT1 in Congenital Heart Defect


    Level 2: Cardiovascular disorders
    Version 0.449

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation - MONDO:0015286
    • UGGT1-CDG

    Green UGGT1 in Differences of Sex Development


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.11

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation - MONDO:0015286
    • UGGT1-CDG

    Green UGGT1 in Mendeliome


    Version 1.2789

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation - MONDO:0015286
    • UGGT1-CDG

    Green UGGT1 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.318

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation - MONDO:0015286
    • UGGT1-CDG

    Amber UGGT1 in Renal Macrocystic Disease


    Level 2: Renal and urinary tract disorders
    Version 0.85

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation - MONDO:0015286
    • UGGT1-CDG

    Green UGGT1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.169

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review Unknown
    Sources
    • Expert Review Green
    • Literature

    Green UGGT1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.202

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Congenital disorder of glycosylation - MONDO:0015286
    • UGGT1-CDG