Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: DESComment 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
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 arrythmiaCreated: 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/pdfCreated: 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
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.
PMID: 23687351 - homz variant in 2 Turkish sibs, born of consanguineous parents - BUT ater reclassified as myofibrillar myopathy as did not fullfill criteria for LGMDCreated: 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
Clinical overlap with LGMDS and myofibrillar myopathies justifies inclusion of this gene in this listCreated: 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
Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve AbbsCreated: 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, 181400Created: 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, 615325Created: 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.
Gene: des has been classified as Green List (High Evidence).
Source Yorkshire and North East GLH was added to DES.
Mode of pathogenicity for gene: DES was changed from to Other
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
Publications for gene: DES were set to 23687351; 11073539; 19433360; 10545598
Publications for gene: DES were set to 23687351
Source NHS GMS was added to DES.
Source South West GLH was added to DES.
Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.
Phenotypes for DES were set to Muscular dystrophy, limb-girdle, type 2R 615325
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
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
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
Mode of inheritance for DES was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for DES were set to 23687351
This gene has been classified as Amber List (Moderate Evidence).
DES was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
DES was added to Limb girdle muscular dystrophypanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory