Genomics England
GMS Panels
Panels
Genes and Entities

UNC45B

unc-45 myosin chaperone B
OMIM: 611220
PanelMode of inheritanceDetails
2 panels
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myofibrillar myopathy 11, OMIM:619178
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
UNC45B-associated Progressive Myopathy with Eccentric Cores