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Gene: SELENON

Green List (high evidence)

SELENON (selenoprotein N)
EnsemblGeneIds (GRCh38): ENSG00000162430
EnsemblGeneIds (GRCh37): ENSG00000162430
OMIM: 606210, Gene2Phenotype
SELENON is in 9 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Disorder of the skeletal muscle characterized by hypotonia and proximal muscle weakness apparent from birth or early childhood. Affected individuals show delayed motor development and develop progressive severe and deforming scoliosis ('rigid spine') in the first or second decades. Respiratory involvement due to diaphragmatic weakness is common, and most patients require ventilatory support due to nocturnal hypoventilation; recurrent respiratory infections are also observed.

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 (PMID: 32796131).

HGNC approved symbol/name: SELENON
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes

NOTE: gene previously called SEPN1
Created: 3 Mar 2025, 5:46 a.m. | Last Modified: 3 Mar 2025, 5:46 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 3 with rigid spine, MIM# 602771

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Muscular dystrophy, rigid spine, 1, 602771 (3)
OMIM
606210
Clinvar variants
Variants in SELENON
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SELENON was added gene: SELENON was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine, 1, 602771 (3)