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Severe Paediatric Disorders

Gene: SELENON

Green List (high evidence)

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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, 2:41 p.m. | Last Modified: 7 Mar 2023, 2:41 p.m.
Panel Version: 1.144

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 3 with rigid spine, OMIM:602771

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SELENON; Recommended initial gene rating: Green List (high evidence); Phenotypes: Muscular dystrophy, rigid spine, 1, 602771 (3) | Myopathy, congenital, with fiber-type disproportion, 255310 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive, Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12