Dilated Cardiomyopathy and conduction defectsGene: SYNE1
Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM#612998; Spinocerebellar ataxia, autosomal recessive 8 OMIM#610743
Created: 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
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
SYNE1 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list