SYNE2

spectrin repeat containing nuclear envelope protein 2
OMIM: 608442
PanelMode of inheritanceDetails
1 panel
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999, congenital muscular dystrophy