Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: SYNE2The 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
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
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
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 phenotypeCreated: 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
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.
Unable to find any evidence of clear LGMD association. PMID:17761684 - Emery Dreifuss muscular dystrophy paperCreated: 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
Clinical overlap between contractural phenotypes such as this and LGMDs justifies inclusion in this panelCreated: 29 Mar 2019, 1:12 p.m.
phenotypic overlap with LGMDs warrants inclusion in this panelCreated: 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
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 reportedCreated: 27 Jul 2016, 7:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q3_22_MOI was removed from gene: SYNE2. Tag Q3_22_NHS_review was removed from gene: SYNE2.
Mode of inheritance for gene SYNE2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q3_22_MOI tag was added to gene: SYNE2. Tag Q3_22_NHS_review tag was added to gene: SYNE2.
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
Publications for gene: SYNE2 were set to 17761684; 19542096; 20301609
Publications for gene: SYNE2 were set to 17761684; 19542096
Gene: syne2 has been classified as Green List (High Evidence).
Source Yorkshire and North East GLH was added to SYNE2.
Mode of inheritance for gene: SYNE2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Publications for gene: SYNE2 were set to 17761684; 19542096
Publications for gene: SYNE2 were set to 17761684
Source NHS GMS was added to SYNE2.
Source South West GLH was added to SYNE2.
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
This gene has been classified as Red List (Low Evidence).
SYNE2 was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen
SYNE2 was created by sleigh