Gene Symbol:
DES
HGNC:2770
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
2q35
Filters:

Definitive classifications

myofibrillar myopathy 1
Submitted as: OMIM:601419
SD
01/04/2018
Evaluated
12/24/2020
Submitted
dilated cardiomyopathy
AD
10/09/2020
Evaluated
08/16/2021
Submitted
myofibrillar myopathy
SD
08/20/2020
Evaluated
08/16/2021
Submitted

Strong classifications

atrioventricular block
AD
08/20/2020
Evaluated
03/31/2021
Submitted
atrioventricular block
AR
08/20/2020
Evaluated
03/31/2021
Submitted
dilated cardiomyopathy 1I
Submitted as: OMIM:604765
AD
01/04/2018
Evaluated
12/24/2020
Submitted

Moderate classifications

arrhythmogenic right ventricular cardiomyopathy
AD
09/11/2018
Evaluated
08/16/2021
Submitted

Supportive classifications

familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted
neurogenic scapuloperoneal syndrome, Kaeser type
Submitted as: Orphanet:85146
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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