Limb girdle muscular dystrophyGene: SYNE1
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported for the Emery-Dreifuss muscular dystrophy 4, autosomal dominant (612998) phenotype
Created: 26 Jul 2016, 1:12 p.m.
Comment on phenotypes: Numerous variants have also been reported in Spinocerebellar ataxia, autosomal recessive 8 610743
Created: 26 Jul 2016, 1:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Green List (High Evidence).
Phenotypes for SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
SYNE1 was created by sleigh
SYNE1 was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen