Congenital myopathy
Gene: SELENONEnsemblGeneIds (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: 7 Mar 2023, 2:34 p.m. | Last Modified: 7 Mar 2023, 2:45 p.m.
Panel Version: 3.125
Phenotypes
Muscular dystrophy, rigid spine, 1, OMIM:602771
Rachael Mein (Viapath at Guy's Hospital)
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
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Milder end of spectrum presents with early onset myopathyCreated: 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
Louise Daugherty (Genomics England Curator)
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 tagCreated: 9 Dec 2016, 4:38 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- 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
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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1 602771; Myopathy, congenital, with fiber-type disproportion 255310 to Muscular dystrophy, rigid spine, 1, OMIM:602771; Myopathy, congenital, with fiber-type disproportion, OMIM:255310
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SELENON were set to 26780752; 16365872
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SELENON.
Added New Source
Louise Daugherty (Genomics England Curator)Source London South GLH was added to SELENON.
Changed Gene Name
GEL ()SEPN1 was changed to SELENON
Removed Tag
GEL ()new-gene-name was removed from SEPN1. Panel: Congenital myopathy
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for SEPN1 were set to Muscular dystrophy, rigid spine, 1 602771; Myopathy, congenital, with fiber-type disproportion 255310
Set publications
Helen Brittain (Genomics England Curator)Publications for SEPN1 were set to 26780752; 16365872
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for SEPN1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)SEPN1 was added to Congenital myopathypanel. Sources: Expert
Added New Source
GEL ()SEPN1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()SEPN1 was added to Congenital myopathypanel. Sources: UKGTN