Limb girdle muscular dystrophy

Gene: SYNE1

Green List (high evidence)

SYNE1 (spectrin repeat containing nuclear envelope protein 1)
EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 14 panels

1 review

Sarah Leigh (Genomics England Curator)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
OMIM
608441
Clinvar variants
Variants in SYNE1
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

26 Jul 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

26 Jul 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998

26 Jul 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SYNE1 was created by sleigh

26 Jul 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

SYNE1 was added to Limb girdle muscular dystrophypanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen