Congenital myopathy
Gene: SELENONComment 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
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
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
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.
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
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
Publications for gene: SELENON were set to 26780752; 16365872
Source NHS GMS was added to SELENON.
Source London South GLH was added to SELENON.
SEPN1 was changed to SELENON
new-gene-name was removed from SEPN1. Panel: Congenital myopathy
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for SEPN1 were set to Muscular dystrophy, rigid spine, 1 602771; Myopathy, congenital, with fiber-type disproportion 255310
Publications for SEPN1 were set to 26780752; 16365872
Mode of inheritance for SEPN1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
SEPN1 was added to Congenital myopathypanel. Sources: Expert
SEPN1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
SEPN1 was added to Congenital myopathypanel. Sources: UKGTN