Genomics England
GMS Panels
Panels
Genes and Entities

KY

kyphoscoliosis peptidase
OMIM: 605739
PanelMode of inheritanceDetails
1 panel
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.42
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Myopathy, myofibrillar, 7, OMIM:617114