Genomics England
GMS Panels
Panels
Genes and Entities

UNC45A

unc-45 myosin chaperone A
OMIM: 611219
PanelMode of inheritanceDetails
3 panels
Green
in Cholestasis
R-numbers: R171
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cholestasis, Diarrhoea, Bone fragility, Impaired hearing
Green
in Osteogenesis imperfecta
R-numbers: R102
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteootohepatoenteric syndrome, OMIM:619377
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteootohepatoenteric syndrome, OMIM:619377