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Progressive cardiac conduction disease

Gene: DES

Green List (high evidence)
DES (desmin)
EnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 15 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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
Created: 2 Dec 2019, 10:38 a.m.
Last Modified: 2 Dec 2019, 10:38 a.m.
Panel version: 0.30

James Eden (Manchester)

I don't know

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

Created: 25 Sep 2019, 2:36 p.m.
Last Modified: 25 Sep 2019, 2:36 p.m.
Panel version: 0.28

Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Green List (high evidence)

On CGGL Royal Brompton panel. Conduction defects may be presenting feature
Created: 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

Created: 23 Sep 2019, 2:27 p.m.
Last Modified: 23 Sep 2019, 2:27 p.m.
Panel version: 0.28

Rebecca Whittington (South West GLH)

Green List (high evidence)

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

Created: 25 Mar 2019, 4:24 p.m.

Panel version: 0.18

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

I don't know

Sources: Expert list
Created: 24 Jan 2019, 12:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Desminopathy-associated AV conduction block

Created: 24 Jan 2019, 12:38 p.m.

Panel version: 0.5

History Filter Activity

2 Mar 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: DES were set to

2 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: DES were changed from Desminopathy-associated AV conduction block to Desminopathy-associated AV conduction block; atrioventricular block (disease), MONDO:0000465

2 Dec 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to DES. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

4 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: des has been classified as Amber List (Moderate Evidence).

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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

24 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

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