Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: SYNE1EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 12 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
The 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
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) 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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- 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
-
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Intellectual disability
- Hereditary ataxia
- Fetal anomalies
- Adult onset neurodegenerative disorder
- Congenital muscular dystrophy
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene SYNE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
Created
Sarah Leigh (Genomics England Curator)SYNE1 was created by sleigh
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