Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
SEPN1
Selenoprotein N1




1p36.13
* Rigid spine syndrome related to SEPN1 - RSS (2.13, 3.12, 3.26, 5.3)
* myopathy, congenital, with fiber-type disproportion - CFTD (2.13, 3.12, 3.26, 5.3)
* Multiminicore disease, classical form - (2.13, 3.12, 3.26, 5.3)
* Muscular dystrophy, rigid spine, 1 - RSMD1 (2.13, 3.12, 3.26, 5.3)
* Desmin-related myopathy with Mallory bodies - RSMD1 (2.13, 3.12, 3.26, 5.3)
* Rigid spine syndrome - RSMD1 (2.13, 3.12, 3.26, 5.3)