1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. SYNE1
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: SYNE1

Green List (high evidence)
SYNE1 (spectrin repeat containing nuclear envelope protein 1)
EnsemblGeneIds (GRCh38): ENSG00000131018
EnsemblGeneIds (GRCh37): ENSG00000131018
OMIM: 608441, Gene2Phenotype
SYNE1 is in 12 panels

3 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

congenital phenotype described in two families (27782104; 19542096). mutations in this gene can also cause a range of phenotypes from ataxia to arthrogryposis
Created: 26 Jan 2017, 4:25 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8)

Publications

Created: 26 Jan 2017, 4:25 p.m.

Copied from panel: Congenital muscular dystrophy v3.86

Ellen McDonagh (Genomics England Curator)

Comment on list classification: After internal discussion, was agreed to promote this to green due to the range of phenotypes associated with variants in this gene.
Created: 27 Jan 2017, 1:58 p.m.
Comment on mode of inheritance: Heterozygotes and homozygotes reported.
Created: 25 Jan 2017, 12:41 p.m.
Comment on list classification: It is a green gene on the Limb girdle muscular dystrophy gene panel Version 1.0.
Created: 25 Jan 2017, 12:40 p.m.
Created: 25 Jan 2017, 12:40 p.m.

Copied from panel: Congenital muscular dystrophy v3.86

Emma Clement (Great Ormond Street Hospital)

I don't know

causes variety of neuromuscular presentations whilst these are not the more classic CMD there is a wide phenotypic spectrum (AD/ AR inheritance cerebellar ataxia or hypotonia and contratcures). Could make a case for this being a green gene.
Created: 19 Dec 2016, 11:47 a.m.

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

Phenotypes
Emery-Dreifuss Muscular Dystrophy; Spinocerebellar ataxia, autosomal recessive 8, 610743

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

Copied from panel: Congenital muscular dystrophy v3.86

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998
  • Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484
OMIM
608441
Clinvar variants
Variants in SYNE1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 3

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

Arina Puzriakova (Genomics England Curator)

gene: SYNE1 was added gene: SYNE1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Illumina TruGenome Clinical Sequencing Services,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: SYNE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SYNE1 were set to 27782104; 19542096 Phenotypes for gene: SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998; Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484 Penetrance for gene: SYNE1 were set to Complete