Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Transplant Co-Morbidity Superpanel

Gene: DES

Green List (high evidence)

DES (desmin)
EnsemblGeneIds (GRCh38): ENSG00000175084
EnsemblGeneIds (GRCh37): ENSG00000175084
OMIM: 125660, Gene2Phenotype
DES is in 11 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
  • Cardiomyopathy, dilated, 1I, MIM# 604765
  • Myopathy, myofibrillar, 1 , MIM#601419
OMIM
125660
Clinvar variants
Variants in DES
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Aug 2023, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DES was added gene: DES was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DES were set to 23168288; 20423733; 20829228; 19879535; 22395865; 24200904; 29212896 Phenotypes for gene: DES were set to Arrhythmogenic right ventricular cardiomyopathy; Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419