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  3. SELENON
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Fetal anomalies

Gene: SELENON

Red List (low 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)

Comment on phenotypes: 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, 2:46 p.m. | Last Modified: 7 Mar 2023, 2:46 p.m.
Panel Version: 2.13
Created: 7 Mar 2023, 2:46 p.m.
Last Modified: 7 Mar 2023, 2:46 p.m.
Panel version: 2.13

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SELENON gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed.
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • PAGE Additional Gene List
Phenotypes
  • Muscular dystrophy, rigid spine, 1, OMIM:602771
OMIM
606210
Clinvar variants
Variants in SELENON
Penetrance
None
Panels with this gene

History Filter Activity

7 Mar 2023, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SELENON were changed from Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771 to Muscular dystrophy, rigid spine, 1, OMIM:602771

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to SELENON. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SELENON was added gene: SELENON was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: SELENON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SELENON were set to Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771