Congenital muscular dystrophy
Gene: SYNE1

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

27782104
19542096,

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

Panel version: 0.111

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.

Panel version: 0.110

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.

Panel version: 0.0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen
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

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SYNE1 were changed from Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998; complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8) to Emery-Dreifuss muscular dystrophy 4, autosomal dominant, OMIM:612998; Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484

4 Dec 2019, Gel status: 3

Removed Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source was removed from SYNE1. Source NHS GMS was added to SYNE1.

27 Jan 2017, Gel status: 4