UNC45A:Ensemblv115

unc-45 myosin chaperone A
OMIM: 611219, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green UNC45A in Cholestasis


Level 2: Gastroenterological disorders
Version 2.0

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

Green UNC45A in Congenital Diarrhoea


Level 2: Gastroenterological disorders
Version 2.0

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

Green UNC45A in Osteogenesis Imperfecta and Osteoporosis


Level 2: Skeletal disorders; Endocrine disorders
Version 2.0

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