Dilated Cardiomyopathy and conduction defects

Gene: SYNE1

Red List (low evidence)

SYNE1 (spectrin repeat containing nuclear envelope protein 1)
EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 15 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

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

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

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