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Additional findings_Paediatric

Gene: DES

Amber List (moderate 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 Amber
  • BabySeq Category B gene
  • BabySeq Category A gene
Phenotypes
  • Cardiomyopathy, dilated
  • Myopathy, myofibrillar
OMIM
125660
Clinvar variants
Variants in DES
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 2

Added New Source, Added New Source, Set Phenotypes, Status Update

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Source BabySeq Category B gene was added to DES. Source Expert Review Amber was added to DES. Added phenotypes Cardiomyopathy, dilated for gene: DES Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

27 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Myopathy, myofibrillar for gene: DES

27 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DES was added gene: DES was added to Newborn Screening_BabySeq. Sources: Expert Review Green,BabySeq Category A gene Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: DES were set to Myopathy, myofibrillar