Arthrogryposis
Gene: SELENONRemoved 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
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
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
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.
Phenotypes
Muscular dystrophy, rigid spine, 1, 602771
added new-gene-name tagCreated: 9 Dec 2016, 4:38 p.m.
Tag Q1_23_MOI was removed from gene: SELENON.
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
Publications for gene: SELENON were set to 20301467
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
Tag Q1_23_MOI tag was added to gene: SELENON.
SEPN1 was changed to SELENON
new-gene-name was removed from SEPN1. Panel: Arthrogryposis
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.
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 20301467
SEPN1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory SEPN1 was added to Arthrogryposispanel. Source:
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
SEPN1 was added to Arthrogryposispanel. Sources: Expert list
SEPN1 was created by ellenmcdonagh