Congenital muscular dystrophy

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 15 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

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.

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998
  • complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8)
OMIM
608441
Clinvar variants
Variants in SYNE1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

27 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 Jan 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998;complex phenotypic spectrum ranging from Emery-Dreifuss muscular dystrophy to ataxia (SCA8)

27 Jan 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for SYNE1 were set to 27782104; 19542096

27 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Jan 2017, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SYNE1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

25 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

25 Jan 2017, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for SYNE1 were set to Emery-Dreifuss muscular dystrophy 4, autosomal dominant 612998

19 Dec 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNE1 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SYNE1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

23 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNE1 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SYNE1 was added to Congenital muscular dystrophypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen