Limb girdle muscular dystrophy

Gene: SYNE2

Green List (high evidence)

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

6 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from Red to Green due to overall majority of Green reviews and clinical comments from from GLH representatives.
Created: 28 Nov 2019, 4:12 p.m. | Last Modified: 28 Nov 2019, 4:12 p.m.
Panel Version: 1.109

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

Form of EDMD. Differential diagnosis with AD LGMD. (proximal weakness and raised CK)
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
overalap LGMD phenotype
Created: 10 May 2019, 2:53 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Emery Dreifuss muscular dystrophy; congenital muscular dystrophy

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 11:45 a.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Unable to find any evidence of clear LGMD association. PMID:17761684 - Emery Dreifuss muscular dystrophy paper
Created: 30 Apr 2019, 11:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999

Publications

Elizabeth Harris (Newcastle upon Tyne NHS Foundation Trust)

Green List (high evidence)

Clinical overlap between contractural phenotypes such as this and LGMDs justifies inclusion in this panel
Created: 29 Mar 2019, 1:12 p.m.
phenotypic overlap with LGMDs warrants inclusion in this panel
Created: 29 Mar 2019, 12:55 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Emery Dreifuss muscular dystrophy; congenital muscular dystrophy

Publications

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM . One variant reported
Created: 27 Jul 2016, 7:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • South West GLH
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Emery-Dreifuss muscular dystrophy 5, autosomal dominant 612999
  • congenital muscular dystrophy
OMIM
608442
Clinvar variants
Variants in SYNE2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: syne2 has been classified as Green List (High Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to SYNE2.

13 May 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: SYNE2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SYNE2 were set to 17761684; 19542096

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: SYNE2 were set to 17761684

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SYNE2.

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to SYNE2.

27 Jul 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

27 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Jul 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SYNE2 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen

27 Jul 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SYNE2 was created by sleigh