This Panel is marked as Retired
Dilated Cardiomyopathy (DCM)
Gene: DMPK
DMPK (DM1 protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 17 panels
1 review
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Sources
-
- Expert list
- Phenotypes
-
- syndromic DCM
- OMIM
- 605377
- Clinvar variants
- Variants in DMPK
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorders
- DDG2P
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Distal myopathies
- Skeletal muscle channelopathy
- Fetal hydrops
- Likely inborn error of metabolism
- Paediatric motor neuronopathies
- Congenital myopathy
- Arthrogryposis
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Congenital muscular dystrophy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DMPK was added to Dilated Cardiomyopathy (DCM)panel. Sources: Expert list