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Molecular autopsy

Gene: DOLK

Green List (high evidence)
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: 0.86

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London South GLH
  • Expert Review Green
Phenotypes
  • 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)
OMIM
610746
Clinvar variants
Variants in DOLK
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to DOLK.

20 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes 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) for gene: DOLK Publications for gene DOLK were changed from 24144945; 22242004 to 17273964; 22242004; 23890587

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: DOLK was added gene: DOLK was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 24144945; 22242004 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im 610768; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)