Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: SELENON
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
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
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
gene symbol submitted to PanelApp SEPN1, changed to new approved gene symbol SELENONCreated: 17 Apr 2019, 12:42 p.m.
Publications for gene: SELENON were set to 15122708; 11528383
Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771; congenital myopathy; muscular dystophy; rigid spine syndrome to Muscular dystrophy, rigid spine, 1, OMIM:602771
Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Gene: selenon has been classified as Green List (High Evidence).
Source NHS GMS was added to SELENON.
Source Yorkshire and North East GLH was added to SELENON.
Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771 to Muscular dystrophy, rigid spine, 1, 602771; congenital myopathy; muscular dystophy; rigid spine syndrome
Mode of inheritance for gene SELENON was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Muscular dystrophy, rigid spine, 1, 602771 for gene: SELENON Publications for gene SELENON were changed from to 15122708; 11528383
gene: SELENON was added gene: SELENON was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: SELENON was set to