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  2. Dilated Cardiomyopathy and conduction defects
  3. SYNE2
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Dilated Cardiomyopathy and conduction defects

Gene: SYNE2

Red List (low evidence)
SYNE2 (spectrin repeat containing nuclear envelope protein 2)
EnsemblGeneIds (GRCh38): ENSG00000054654
EnsemblGeneIds (GRCh37): ENSG00000054654
OMIM: 608442, Gene2Phenotype
SYNE2 is in 5 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Emery-Dreifuss muscular dystrophy 5, autosomal dominant OMIM#612999
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.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 1.55

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • Expert list
Phenotypes
  • syndromic DCM
OMIM
608442
Clinvar variants
Variants in SYNE2
Penetrance
Complete
Panels with this gene

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 SYNE2. Mode of inheritance for gene SYNE2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

14 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNE2 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list