1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. SYNE2
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

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

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.

Copied from panel: Congenital muscular dystrophy v3.95

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.

Copied from panel: Congenital muscular dystrophy v3.95

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

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: SYNE2 was added gene: SYNE2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert Review Red Mode of inheritance for gene: SYNE2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SYNE2 were set to Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999 Penetrance for gene: SYNE2 were set to Complete