Sudden cardiac death - previous panel
Gene: DOLK

DOLK (dolichol kinase)
EnsemblGeneIds (GRCh38): ENSG00000175283
EnsemblGeneIds (GRCh37): ENSG00000175283
OMIM: 610746, Gene2Phenotype
DOLK is in 13 panels

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Created: 20 Feb 2019, 2:17 p.m.

Panel version: Imported from Molecular autopsy panel version 0.86

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
London South GLH
London South GLH
Expert Review Green

Phenotypes

Congenital disorder of glycosylation, type Im
Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Congenital disorder of glycosylation, type Im 610768
syndromic DCM

OMIM

610746

Clinvar variants

Variants in DOLK

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 2

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

Ivone Leong (Genomics England Curator)

gene: DOLK was added gene: DOLK was added to Sudden cardiac death. Sources: London South GLH,Expert Review Amber Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 23890587; 17273964; 22242004 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type Im 610768; syndromic DCM

Sudden cardiac death - previous panel Gene: DOLK