Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: DES

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

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

• 11073539
• 19433360
• 10545598

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

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.

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

• 23687351

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

• PMID: 11073539
• PMID: 19433360
• PMID: 10545598

Mode of pathogenicity
Other

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

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.

Comment on list classification: Mainly AD or AR myofibrillar myopathy - evidence for LGMD less convincing.

Created: 29 May 2016, 3:34 p.m.