Limb girdle muscular dystrophy

Gene: DES

Green List (high evidence)

DES (desmin)
EnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 17 panels

7 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 GLH representatives.
Created: 28 Nov 2019, 5:05 p.m. | Last Modified: 28 Nov 2019, 5:05 p.m.
Panel Version: 1.155

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

currently provided through LGMD panel at HSS LGMD in Ncl. Form of myofibrillar myopathy that can present with variable phenotypes from distal weakness, scapuloperoneal weakness and cardiomyopathy and arrythmia
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
this gene is currently provided as part of our diagnostic service and is listed on the LGMD classification
https://www.nmd-journal.com/article/S0960-8966(18)30214-1/pdf
Created: 18 Jun 2019, 10 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
myofibrillar myopathy; cardiomyopathy; limb girdle muscular dystrophy

Publications

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

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)

PMID: 23687351 - homz variant in 2 Turkish sibs, born of consanguineous parents - BUT ater reclassified as myofibrillar myopathy as did not fullfill criteria for LGMD
Created: 30 Apr 2019, 11:24 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, type 2R, 615325

Publications

Elizabeth Harris (Newcastle upon Tyne NHS Foundation Trust)

Green List (high evidence)

Clinical overlap with LGMDS and myofibrillar myopathies justifies inclusion of this gene in this list
Created: 29 Mar 2019, 1:12 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
myofibrillar myopathy; cardiomyopathy; limb girdle muscular dystrophy

Publications

Mode of pathogenicity
Other

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

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 8:21 a.m.
Comment on phenotypes: Also associated with Cardiomyopathy, dilated, 1I, 604765; Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400
Created: 26 Jul 2016, 2:14 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not G2P. Found in 2/4 sources. Expert reviewer recommends Amber. Only one homozygous variant found in twins of consanguineous parents for phenotype 615325.
Comment from Emma Clement: appears to be predominantly myopathy. However, and this applies to a lot of these conditions, whether they are reported as LGMD or myopathy may depend on quality of muscle biopsy. These patients have a 'limb girdle' weakness and if biopsy is inadequate will miss them by excluding this from list.
Created: 9 Jun 2016, 12:59 p.m.
Comment on mode of inheritance: biallelic for Muscular dystrophy, limb-girdle, type 2R, 615325
Created: 9 Jun 2016, 12:42 p.m.

Ellen Thomas (Genomics England Curator)

Comment on list classification: Mainly AD or AR myofibrillar myopathy - evidence for LGMD less convincing.
Created: 29 May 2016, 3:34 p.m.

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: des 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 DES.

30 Apr 2019, Gel status: 1

Set mode of pathogenicity

Louise Daugherty (Genomics England Curator)

Mode of pathogenicity for gene: DES was changed from to Other

30 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DES were changed from Muscular dystrophy, limb-girdle, type 2R 615325 to Muscular dystrophy, limb-girdle, type 2R, 615325; myofibrillar myopathy; cardiomyopathy; limb girdle muscular dystrophy

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DES were set to 23687351; 11073539; 19433360; 10545598

30 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: DES were set to 23687351

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DES.

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to DES.

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.

26 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DES were set to Muscular dystrophy, limb-girdle, type 2R 615325

26 Jul 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DES were set to Cardiomyopathy, dilated, 1I, 604765; Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400 Muscular dystrophy, limb-girdle, type 2R 615325

26 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).

9 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

9 Jun 2016, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for DES were set to ?Muscular dystrophy, limb-girdle, type 2R, 615325; Cardiomyopathy, dilated, 1I, 604765; Myopathy, myofibrillar, 1, 601419; Scapuloperoneal syndrome, neurogenic, Kaeser type, 181400

9 Jun 2016, Gel status: 2

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

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

9 Jun 2016, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DES were set to 23687351

29 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

28 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DES was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

28 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DES was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory