This Panel is marked as Retired
Dilated Cardiomyopathy (DCM)
Gene: DOLK
DOLK (dolichol kinase)
EnsemblGeneIds (GRCh38): ENSG00000175283
EnsemblGeneIds (GRCh37): ENSG00000175283
OMIM: 610746, Gene2Phenotype
DOLK is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000175283
EnsemblGeneIds (GRCh37): ENSG00000175283
OMIM: 610746, Gene2Phenotype
DOLK is in 13 panels
1 review
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Sources
-
- Expert list
- Phenotypes
-
- syndromic DCM
- OMIM
- 610746
- Clinvar variants
- Variants in DOLK
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Dilated and arrhythmogenic cardiomyopathy
- Early onset or syndromic epilepsy
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Fetal anomalies
History Filter Activity
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)DOLK was added to Dilated Cardiomyopathy (DCM)panel. Sources: Expert list