Arthrogryposis
Gene: SELENONComment 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.
Phenotypes
Muscular dystrophy, rigid spine, 1, 602771
added new-gene-name tagCreated: 9 Dec 2016, 4:38 p.m.
SEPN1 was changed to SELENON
new-gene-name was removed from SEPN1. Panel: Arthrogryposis
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for SEPN1 were set to ; Muscular dystrophy, rigid spine, 1, 602771;Myopathy, congenital, with fiber-type disproportion 255310
Publications for SEPN1 were set to 20301467
SEPN1 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory SEPN1 was added to Arthrogryposispanel. Source:
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
SEPN1 was created by ellenmcdonagh
SEPN1 was added to Arthrogryposispanel. Sources: Expert list