Dilated Cardiomyopathy and conduction defects
Gene: SYNE1
SYNE1 (spectrin repeat containing nuclear envelope protein 1)
EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 12 panels
2 reviews
Rebecca Whittington (South West GLH)
Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM#612998; Spinocerebellar ataxia, autosomal recessive 8 OMIM#610743Created: 25 Mar 2019, 4:30 p.m.
The association with DCM is not strong. Banerjee :February 2014 | Volume 10 | Issue 2 | e1004114 - Mouse model and other evidence : Duong NT, Morris GE, Lam LT, Zhang Q, Sewry CA, et al. (2014) Nesprins: Tissue-Specific Expression of Epsilon and Other Short Isoforms. PLoS ONE 9(4):e94380. doi:10.1371/journal.pone.0094380. 3 missense variants detected in SYNE1 assoc with DCM, functional studies undertaken but no family studies: Zhou Human Molecular Genetics, 2017, Vol. 26, No. 12.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Expert list
- OMIM
- 608441
- Clinvar variants
- Variants in SYNE1
- Penetrance
- Complete
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hereditary ataxia with onset in adulthood
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Dilated Cardiomyopathy and conduction defects
- Adult onset neurodegenerative disorder
- Hereditary ataxia
- Fetal anomalies
- DDG2P
- Ataxia and cerebellar anomalies - narrow panel
- Arthrogryposis
- Congenital muscular dystrophy
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to SYNE1. Mode of inheritance for gene SYNE1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
14 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)SYNE1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list