Genomics England
GMS Panels
Panels
Genes and Entities

CASQ1

calsequestrin 1
OMIM: 114250
PanelMode of inheritanceDetails
1 panel
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, vacuolar, with CASQ1 aggregates, OMIM:616231