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  2. Congenital muscular dystrophy and congenital myopathy
  3. SELENON
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Congenital muscular dystrophy and congenital myopathy

Gene: SELENON

Green List (high evidence)
SELENON (selenoprotein N)
EnsemblGeneIds (GRCh38): ENSG00000162430
EnsemblGeneIds (GRCh37): ENSG00000162430
OMIM: 606210, Gene2Phenotype
SELENON is in 7 panels

5 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: OMIM associates 'Myopathy, congenital, with fiber-type disproportion, OMIM:255310' with TPM3 and not with SELENON. Hence, it has been removed here.
Created: 22 Dec 2023, 10:06 a.m. | Last Modified: 22 Dec 2023, 10:06 a.m.
Panel Version: 0.206

Phenotypes
Muscular dystrophy, rigid spine, 1, OMIM:602771

Created: 22 Dec 2023, 10:06 a.m.
Last Modified: 22 Dec 2023, 10:06 a.m.
Panel version: 0.206

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, rigid spine, 1 602771; Myopathy, congenital, with fiber-type disproportion 255310

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.91

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, rigid spine, 1 602771; Myopathy, congenital, with fiber-type disproportion 255310

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.91

Helen Brittain (Genomics England Curator)

I don't know

Comment when marking as ready: Milder end of spectrum presents with early onset myopathy
Created: 3 Feb 2017, 11:23 a.m.
Comment on list classification: Although most commonly associated with muscular dystrophy with rigid spine, reports of early onset myopathic presentation (in at least three unrelated individuals) exist. Therefore at the milder end of the spectrum, this panel would be appropriate.
Created: 3 Feb 2017, 11:22 a.m.
HGNC notes approved symbol as SELENON. More commonly associated with muscular dystrophy with rigid spine. However, three separate families identified in above PMIDs with a myopathic, but relatively mild, phenotype.
Created: 30 Jan 2017, 11:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, rigid spine, 1 602771; Myopathy, congenital, with fiber-type disproportion 255310

Publications

Created: 30 Jan 2017, 11:41 a.m.

Copied from panel: Congenital myopathy v3.91

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.
add new-gene-name tag
Created: 9 Dec 2016, 4:38 p.m.
Created: 9 Dec 2016, 4:38 p.m.

Copied from panel: Congenital myopathy v3.91

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert
  • UKGTN
Phenotypes
  • Muscular dystrophy, rigid spine, 1, OMIM:602771
OMIM
606210
Clinvar variants
Variants in SELENON
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

22 Dec 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, OMIM:602771; Myopathy, congenital, with fiber-type disproportion, OMIM:255310 to Muscular dystrophy, rigid spine, 1, OMIM:602771

6 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: SELENON was added gene: SELENON was added to Congenital muscular dystrophy and congenital myopathy. Sources: UKGTN,Expert,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,London South GLH Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SELENON were set to 26780752; 16365872; 23217329 Phenotypes for gene: SELENON were set to Muscular dystrophy, rigid spine, 1, OMIM:602771; Myopathy, congenital, with fiber-type disproportion, OMIM:255310 Penetrance for gene: SELENON were set to Complete