Dilated and arrhythmogenic cardiomyopathy
Gene: DOLKEnsemblGeneIds (GRCh38): ENSG00000175283
EnsemblGeneIds (GRCh37): ENSG00000175283
OMIM: 610746, Gene2Phenotype
DOLK is in 13 panels
2 reviews
Kate Thomson (Oxford University Hospitals Foundation Trust)
Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.61
Ivone Leong (Genomics England Curator)
New gene submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.Created: 3 Dec 2019, 2:28 p.m. | Last Modified: 3 Dec 2019, 2:28 p.m.
Panel Version: 0.52
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- OMIM
- 610746
- Clinvar variants
- Variants in DOLK
- Penetrance
- None
- Panels with this gene
-
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Early onset or syndromic epilepsy
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Dilated and arrhythmogenic cardiomyopathy
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to DOLK. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: DOLK was added gene: DOLK was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal