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Arthrogryposis

Gene: SELENON

Green List (high evidence)

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

3 reviews

Alice Gardham (Genomics England)

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.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Phenotypes
Muscular dystrophy, rigid spine, 1, 602771

Louise Daugherty (Genomics England Curator)

added new-gene-name tag
Created: 9 Dec 2016, 4:38 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Muscular dystrophy, rigid spine, 1, 602771
  • Myopathy, congenital, with fiber-type disproportion 255310
OMIM
606210
Clinvar variants
Variants in SELENON
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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: Arthrogryposis

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

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.

22 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

22 Dec 2016, Gel status: 3

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for SEPN1 were set to ; Muscular dystrophy, rigid spine, 1, 602771;Myopathy, congenital, with fiber-type disproportion 255310

22 Dec 2016, Gel status: 3

Set publications

Alice Gardham (Genomics England)

Publications for SEPN1 were set to 20301467

21 Dec 2016, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

SEPN1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory SEPN1 was added to Arthrogryposispanel. Source:

21 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

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

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SEPN1 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SEPN1 was added to Arthrogryposispanel. Sources: Expert list