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  3. SYNE2
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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

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

8 reviews

Arina Puzriakova (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 11:31 a.m. | Last Modified: 1 Feb 2023, 11:31 a.m.
Panel Version: 3.6
Created: 1 Feb 2023, 11:31 a.m.
Last Modified: 1 Feb 2023, 11:31 a.m.
Panel version: 3.6

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

As far as I can tell there is no evidence that this gene manifests with autosomal recessive inheritance, paper 19542096 quoted by a reviewer below relates to SYNE1 not SYNE2. GeneReviews and OMIM only state AD inheritance for this gene. The mode of inheritance for this gene should therefore be changed.
Created: 13 Jun 2022, 11:51 a.m. | Last Modified: 13 Jun 2022, 11:51 a.m.
Panel Version: 2.38

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
muscular dystrophy

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Jun 2022, 11:51 a.m.
Last Modified: 13 Jun 2022, 11:51 a.m.
Panel version: 2.38

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
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

Created: 10 May 2019, 2:53 p.m.

Panel version: 1.97

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.
Created: 30 Apr 2019, 11:45 a.m.

Panel version: 1.46

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

Created: 30 Apr 2019, 11:24 a.m.

Panel version: 1.22

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

Created: 26 Mar 2019, 4:33 p.m.

Panel version: 1.15

Sarah Leigh (Genomics England Curator)

Comment on publications: PMID: 19542096 refers only to variants in SYNE1 and so is not relevant to SYNE2.
Created: 21 Jun 2022, 10:18 a.m. | Last Modified: 21 Jun 2022, 10:18 a.m.
Panel Version: 2.40
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

Created: 27 Jul 2016, 7:52 a.m.

Panel version: 2.44

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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, OMIM:612999
OMIM
608442
Clinvar variants
Variants in SYNE2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_MOI was removed from gene: SYNE2. Tag Q3_22_NHS_review was removed from gene: SYNE2.

1 Feb 2023, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

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

29 Sep 2022, Gel status: 3

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_22_MOI tag was added to gene: SYNE2. Tag Q3_22_NHS_review tag was added to gene: SYNE2.

21 Jun 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

21 Jun 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SYNE2 were set to 17761684; 19542096; 20301609

21 Jun 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SYNE2 were set to 17761684; 19542096

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