Genomics England
GMS Panels
Panels
Genes and Entities

SYNE2

spectrin repeat containing nuclear envelope protein 2
OMIM: 608442
PanelMode of inheritanceDetails
1 panel
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.33
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999