Congenital muscular dystrophy

Gene: SELENON

Green List (high evidence)

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

4 reviews

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, rigid spine, 1, 602771

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment when marking as ready: Expert review green and >3 cases/families for Muscular dystrophy, rigid spine (biallelic). Different variants reported.
Created: 24 Jan 2017, 4:56 p.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
Muscular dystrophy, rigid spine, 1, 602771

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.
added new-gene-name tag
Created: 9 Dec 2016, 4:38 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Muscular dystrophy, rigid spine, 1, 602771
OMIM
606210
Clinvar variants
Variants in SELENON
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SELENON were changed from to 23217329

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SELENON.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to SELENON.

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

SEPN1 was changed to SELENON

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from SEPN1. Panel: Congenital muscular dystrophy

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

24 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jan 2017, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SEPN1 was changed to BIALLELIC, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SEPN1 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SEPN1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SEPN1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SEPN1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen