Progressive cardiac conduction disease
Gene: DES
Submitted on behalf of the GMS Cardiology specialist group. Promoted from Amber to Green as the group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
No association with conduction disease on OMIM but three missense variants have been associated with cardiomyopathy with atrioventricular block in HGMD: c.46C>T p.(Arg16Cys), c.1237G>A p.(Glu413Lys), c.1358C>T p.(Thr453Ile).Created: 25 Sep 2019, 2:36 p.m. | Last Modified: 25 Sep 2019, 2:36 p.m.
Panel Version: 0.28
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cardiomyopathy, dilated, 1I 604765
Publications
On CGGL Royal Brompton panel. Conduction defects may be presenting featureCreated: 23 Sep 2019, 2:27 p.m. | Last Modified: 23 Sep 2019, 2:27 p.m.
Panel Version: 0.28
Variants in this GENE are reported as part of current diagnostic practice
Myopathy, myofibrillar, 1 (601419); Cardiomyopathy, dilated, 1I (604765)Created: 25 Mar 2019, 4:30 p.m.
As with LMNA - reports of individuals with a DES variant who had a conduction defect as an isolated finding at presentation.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Sources: Expert listCreated: 24 Jan 2019, 12:38 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Desminopathy-associated AV conduction block
Publications for gene: DES were set to
Phenotypes for gene: DES were changed from Desminopathy-associated AV conduction block to Desminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465
Source Expert Review Green was added to DES. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: des has been classified as Amber List (Moderate Evidence).
Source South West GLH was added to DES. Mode of inheritance for gene DES was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: DES was added gene: DES was added to Progressive cardiac conduction disease. Sources: Expert list Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DES were set to Desminopathy-associated AV conduction block Review for gene: DES was set to AMBER