Muscular dystrophy and myopathy_Paediatric
Gene: SELENONEnsemblGeneIds (GRCh38): ENSG00000162430
EnsemblGeneIds (GRCh37): ENSG00000162430
OMIM: 606210, Gene2Phenotype
SELENON is in 9 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Gene is also known as SEPN1.
Recent review of 132 paediatric and adult patients with SELENON-associated muscle disease, PMID 32796131:
The clinical phenotype was marked by severe axial muscle weakness, spinal rigidity, and scoliosis (86.1%, from 8.9 ± 4 years), with relatively preserved limb strength and previously unreported ophthalmoparesis in severe cases. All patients developed respiratory failure (from 10.1±6 years), 81.7% requiring ventilation while ambulant.
Histopathologically, 79 muscle biopsies showed large variability, partly determined by site of biopsy and age. Multi-minicores were the most common lesion (59.5%), often associated with mild dystrophic features and occasionally with eosinophilic inclusions.
Identification of 65 SEPN1 mutations, including 32 novel ones and the first pathogenic copy number variation, unveiled exon 1 as the main mutational hotspot and revealed the first genotype-phenotype correlations, bi-allelic null mutations being significantly associated with disease severity (p = 0.017).
SEPN1-RM was more severe and progressive than previously thought, leading to loss of ambulation in 10% of cases, systematic functional decline from the end of the third decade, and reduced lifespan even in mild cases. The main prognosis determinants were scoliosis/respiratory management, SEPN1 mutations, and body mass abnormalities, which correlated with disease severity.Created: 16 Oct 2020, 10:05 a.m. | Last Modified: 16 Oct 2020, 10:05 a.m.
Panel Version: 0.4970
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, congenital, with fiber-type disproportion, MIM# 255310; Muscular dystrophy, rigid spine, 1, MIM# 602771
Publications
Crystle Lee (Victorian Clinical Genetics Services)
Reported in multiple families for the associated phenotype. Onset in infancy (OMIM).
PMID: 11528383: 10 families reported with congenital muscular dystrophy with spinal rigidity and normal CK levels. Variants not present in gnomAD at unexpected frequencies.Created: 29 Jun 2020, 2:23 a.m. | Last Modified: 29 Jun 2020, 2:23 a.m.
Panel Version: 0.48
Phenotypes
Muscular dystrophy, rigid spine, 1 (MIM#602771)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Phenotypes
-
- Muscular dystrophy, rigid spine, 1 (MIM#602771)
- OMIM
- 606210
- Clinvar variants
- Variants in SELENON
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: selenon has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SELENON were changed from to Muscular dystrophy, rigid spine, 1 (MIM#602771)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SELENON were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SELENON was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SELENON was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SELENON was added gene: SELENON was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SELENON was set to Unknown