Congenital muscular dystrophy
Gene: SELENON
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
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.
Phenotypes
Muscular dystrophy, rigid spine, 1, 602771
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 tagCreated: 9 Dec 2016, 4:38 p.m.
Publications for gene SELENON were changed from to 23217329
Source NHS GMS was added to SELENON.
Source London South GLH was added to SELENON.
SEPN1 was changed to SELENON
new-gene-name was removed from SEPN1. Panel: Congenital muscular dystrophy
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for SEPN1 was changed to BIALLELIC, autosomal or pseudoautosomal
SEPN1 was added to Congenital muscular dystrophypanel. Source:
SEPN1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
SEPN1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen
SEPN1 was added to Congenital muscular dystrophypanel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen