Congenital muscular dystrophy
Gene: SYNE2

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

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted to red from amber due to expert review.
Created: 19 Dec 2016, 2:28 p.m.

Created: 19 Dec 2016, 2:28 p.m.

Panel version: 0.14

Emma Clement (Great Ormond Street Hospital)

Red List (low evidence)

less reports than for SYNE1, causes EDMD type phenotype, onet outside congenital period.
Created: 19 Dec 2016, 11:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999

Created: 19 Dec 2016, 11:47 a.m.

Panel version: 0.0

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999

OMIM

608442

Clinvar variants

Variants in SYNE2

Penetrance

Complete

Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 1

Removed Source

Arina Puzriakova (Genomics England Curator)

Source was removed from SYNE2.

6 Feb 2023, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SYNE2 were changed from Emery-Dreifuss Muscular Dystrophy; Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 to Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999

27 Jan 2017, Gel status: 1