UNC45A

unc-45 myosin chaperone A
OMIM: 611219, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green UNC45A in Cholestasis


Level 2: Gastroenterological disorders
Version 0.240

Component of the following Super Panels:

  • Liverome Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Osteootohepatoenteric syndrome, MIM# 619377
    • Cholestasis
    • Diarrhoea
    • Bone fragility
    • Impaired hearing

    Green UNC45A in Congenital Diarrhoea


    Level 2: Gastroenterological disorders
    Version 1.13

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Osteootohepatoenteric syndrome, MIM# 619377
    • Cholestasis
    • Diarrhoea
    • Bone fragility
    • Impaired hearing

    Green UNC45A in Mendeliome


    Version 1.1891

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Osteootohepatoenteric syndrome, MIM# 619377
    • Cholestasis
    • Diarrhoea
    • Bone fragility
    • Impaired hearing

    Amber UNC45A in Osteogenesis Imperfecta and Osteoporosis


    Level 2: Skeletal disorders
    Version 0.114

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Victorian Clinical Genetics Services
    Phenotypes
    • Osteootohepatoenteric syndrome, MIM# 619377
    • cholestasis
    • congenital diarrhea
    • impaired hearing
    • bone fragility