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  2. Congenital disorders of glycosylation
  3. DOLK
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Congenital disorders of glycosylation

Gene: DOLK

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported.
Created: 15 Dec 2016, 4:27 p.m.
Created: 15 Dec 2016, 4:27 p.m.

Panel version: 0.56

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Created: 12 Dec 2016, 1:58 p.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Literature
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
Phenotypes
  • Congenital disorder of glycosylation, type Im 610768
  • Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
OMIM
610746
Clinvar variants
Variants in DOLK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to V1 19th December 2016

15 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

15 Dec 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for DOLK were set to 22242004; 24144945

1 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

DOLK was added to Congenital disorders of glycosylationpanel. Source: UKGTN

1 Dec 2016, Gel status: 3

Added New Source

Sarah Leigh (Genomics England Curator)

DOLK was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen

1 Dec 2016, Gel status: 2

Set Mode of Inheritance, Added New Source

Sarah Leigh (Genomics England Curator)

DOLK was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene DOLK was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

DOLK was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services

1 Dec 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DOLK was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory

1 Dec 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

DOLK was created by sleigh