Limb girdle muscular dystrophy

Gene: SELENON

Green List (high evidence)

SELENON (selenoprotein N)
EnsemblGeneIds (GRCh38): ENSG00000162430
EnsemblGeneIds (GRCh37): ENSG00000162430
OMIM: 606210, Gene2Phenotype
SELENON is in 6 panels

4 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Created: 28 Nov 2019, 4:21 p.m. | Last Modified: 28 Nov 2019, 4:21 p.m.
Panel Version: 1.117
Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from GLH representatives.
Created: 28 Nov 2019, 4:20 p.m. | Last Modified: 28 Nov 2019, 4:20 p.m.
Panel Version: 1.116

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

Rigid spine syndrome, but not all patients present with rigid spine. Muscle biopsy can range from myoathic to dystrophic. Differential diagnosis with LGMD.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital myopathy; muscular dystophy; rigid spine syndrome

Publications

Louise Daugherty (Genomics England Curator)

gene symbol submitted to PanelApp SEPN1, changed to new approved gene symbol SELENON
Created: 17 Apr 2019, 12:42 p.m.

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, rigid spine, 1, 602771

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Muscular dystrophy, rigid spine, 1, 602771
  • congenital myopathy
  • muscular dystophy
  • rigid spine syndrome
OMIM
606210
Clinvar variants
Variants in SELENON
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: SELENON was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: selenon has been classified as Green List (High Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SELENON.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SELENON.

13 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: SELENON were changed from Muscular dystrophy, rigid spine, 1, 602771 to Muscular dystrophy, rigid spine, 1, 602771; congenital myopathy; muscular dystophy; rigid spine syndrome

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SELENON was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Muscular dystrophy, rigid spine, 1, 602771 for gene: SELENON Publications for gene SELENON were changed from to 15122708; 11528383

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SELENON was added gene: SELENON was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: SELENON was set to