Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: SYNE1The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.Created: 3 Aug 2022, 3:30 p.m. | Last Modified: 3 Aug 2022, 3:30 p.m.
Panel Version: 2.44
The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 12:04 p.m. | Last Modified: 9 Mar 2022, 12:04 p.m.
Panel Version: 2.37
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) phenotypeCreated: 26 Jul 2016, 1:12 p.m.
Comment on phenotypes: Numerous variants have also been reported in Spinocerebellar ataxia, autosomal recessive 8 610743Created: 26 Jul 2016, 1:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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