Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: SELENON

Green List (high evidence)

Sufficient cases with SEPN1(SELENON)-related myopathy have been reported with limb girdle weakness/ dystrophy.

Created: 7 Mar 2023, 5:15 p.m. | Last Modified: 7 Mar 2023, 5:17 p.m.

Panel Version: 3.13

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 3 with rigid spine, OMIM:602771

Publications

• 15668457
• 27863379
• 28558865
• 29850975
• 30642275
• 32796131

I don't know

Much more of a congenital muscular dystrophy, not convinced there is significant phenotypic overlap with LGMD to justify inclusion here.

Created: 1 Jul 2020, 10:04 a.m. | Last Modified: 1 Jul 2020, 10:04 a.m.

Panel Version: 2.6

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.

Created: 28 Nov 2019, 4:21 p.m. | Last Modified: 28 Nov 2019, 4:21 p.m.

Panel Version: 1.117

Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.

Created: 28 Nov 2019, 4:20 p.m. | Last Modified: 28 Nov 2019, 4:20 p.m.

Panel Version: 1.116

Green List (high evidence)

Rigid spine syndrome, but not all patients present with rigid spine. Muscle biopsy can range from myoathic to dystrophic. Differential diagnosis with LGMD.

Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.

Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy; muscular dystophy; rigid spine syndrome

Publications

• 11528383
• 15122708

gene symbol submitted to PanelApp SEPN1, changed to new approved gene symbol SELENON

Created: 17 Apr 2019, 12:42 p.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, rigid spine, 1, 602771

Publications

• 11528383
• 15122708