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  3. DOLK
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Dilated Cardiomyopathy

Gene: DOLK

Amber List (moderate evidence)
DOLK (dolichol kinase)
EnsemblGeneIds (GRCh38): ENSG00000175283
EnsemblGeneIds (GRCh37): ENSG00000175283
OMIM: 610746, Gene2Phenotype
DOLK is in 12 panels

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

Not curated by ClinGen.

This is a CDG gene. Patients may present with DCM (among other phenotypes).

PMID 22242004 describes 11 young (5-13) patients with "predominantly nonsyndromic presentation of DCM".
Sources: Literature
Created: 3 Aug 2020, 2:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Im MIM#610768

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 3 Aug 2020, 2:55 a.m.

Panel version: 0.43

History Filter Activity

3 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dolk has been classified as Amber List (Moderate Evidence).

3 Aug 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dolk has been classified as Amber List (Moderate Evidence).

3 Aug 2020, Gel status: 0

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

Paul De Fazio (Victorian Clinical Genetics Services)

gene: DOLK was added gene: DOLK was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 31741824; 28816422; 24144945; 22242004 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im MIM#610768 Review for gene: DOLK was set to AMBER gene: DOLK was marked as current diagnostic