Genomics England
GMS Panels
Panels
Genes and Entities
Facioscapulohumeral muscular dystrophy - extended testing (Version:
1.0
)
Relevant disorders:
R345
Signed off date:
14 Sept 2023
Panel types:
GMS Rare Disease, GMS signed-off
See this panel in PanelApp
1 green entities
Entity rating
Entity
Mode of inheritance
Mode of pathogenicity
Tags
Green
SMCHD1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
N/A
digenic