Arthrogryposis
Gene: SELENONEnsemblGeneIds (GRCh38): ENSG00000162430
EnsemblGeneIds (GRCh37): ENSG00000162430
OMIM: 606210, Gene2Phenotype
SELENON is in 7 panels
6 reviews
Eleanor Williams (Genomics England Curator)
Removed the Q1_23_MOI tag as the mode of the inheritance of this gene has now been updated to Biallelic.Created: 17 Oct 2023, 2:08 p.m. | Last Modified: 17 Oct 2023, 2:08 p.m.
Panel Version: 5.17
Sarah Leigh (Genomics England Curator)
The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.Created: 10 Oct 2023, 4:08 p.m. | Last Modified: 10 Oct 2023, 4:08 p.m.
Panel Version: 5.15
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on MOI: The MOI of this gene should be changed to 'BIALLELIC, autosomal or pseudoautosomal' as I cannot find any evidence that relates monoallelic variants of this gene with disease phenotype.
This gene has only been associated with phenotypes arising from autosomal recessive/ biallelic inheritance in OMIM (MIM #602771) and Gene2Phenotype and not with any other phenotypes arising from autosomal dominant phenotypes. The OMIM phenotype that was previously associated with SELENON (Myopathy, congenital, with fiber-type disproportion, MIM #255310) has now been associated with TPM3.
In addition, published cases from literature show that biallelic variants (both homozygous and compound heterozygous) in SELENON cause a broad spectrum of myopathy including rigid spine muscular dystrophy, multi-minicore disease, congenital fiber type disproportion and desmin-related myopathy with Mallory body–like inclusions.Created: 7 Mar 2023, 2:30 p.m. | Last Modified: 7 Mar 2023, 2:30 p.m.
Panel Version: 4.11
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy 3 with rigid spine, OMIM:602771
Publications
Alice Gardham (Genomics England)
Comment when marking as ready: Multiminicore disease genereview: Antenatal form with arthrogryposis multiplex congenita (<10%). The characteristic feature is generalized joint contractures at birth as a result of poor fetal movement. Associated distinctive features are dolicocephaly, prominent nasal root, oblique palpebral fissues, high-arched palate, low-set ears, short neck, and clinodactyly.Created: 22 Dec 2016, 10:34 a.m.
Emma Clement (Great Ormond Street Hospital)
Phenotypes
Muscular dystrophy, rigid spine, 1, 602771
Louise Daugherty (Genomics England Curator)
added new-gene-name tagCreated: 9 Dec 2016, 4:38 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Emory Genetics Laboratory
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Congenital myopathy 3 with rigid spine, OMIM:602771
- OMIM
- 606210
- Clinvar variants
- Variants in SELENON
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q1_23_MOI was removed from gene: SELENON.
Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)Source NHS GMS was added to SELENON. Mode of inheritance for gene SELENON was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: SELENON were set to 20301467
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771; Myopathy, congenital, with fiber-type disproportion 255310 to Congenital myopathy 3 with rigid spine, OMIM:602771
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q1_23_MOI tag was added to gene: SELENON.
Changed Gene Name
GEL ()SEPN1 was changed to SELENON
Removed Tag
GEL ()new-gene-name was removed from SEPN1. Panel: Arthrogryposis
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for SEPN1 were set to ; Muscular dystrophy, rigid spine, 1, 602771;Myopathy, congenital, with fiber-type disproportion 255310
Set publications
Alice Gardham (Genomics England)Publications for SEPN1 were set to 20301467
Added New Source
Ellen McDonagh (Genomics England Curator)SEPN1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory SEPN1 was added to Arthrogryposispanel. Source:
Added New Source
Ellen McDonagh (Genomics England Curator)SEPN1 was added to Arthrogryposispanel. Source: UKGTN SEPN1 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen SEPN1 was added to Arthrogryposispanel. Source: Expert
Added New Source
Ellen McDonagh (Genomics England Curator)SEPN1 was added to Arthrogryposispanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)SEPN1 was created by ellenmcdonagh