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  3. DOLK
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Cardiomyopathy_Paediatric

Gene: DOLK

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variable clinical presentation ranging from non-syndromic dilated cardiomypopathy to severe multiorgan involvement. More than 5 unrelated families reported.
Created: 19 Dec 2020, 2:35 a.m. | Last Modified: 19 Dec 2020, 2:35 a.m.
Panel Version: 0.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768

Publications

Created: 19 Dec 2020, 2:35 a.m.
Last Modified: 19 Dec 2020, 2:35 a.m.
Panel version: 0.43

History Filter Activity

19 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DOLK were set to 17273964; 22242004; 23890587

19 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dolk has been classified as Green List (High Evidence).

19 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im 610768; syndromic DCM; Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768

28 Jul 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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