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DDG2P

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for DOLK-related congenital disorder of glycosylation are definitive, biallelic_autosomal and undetermined (PMIDs: 17273964, 22242004). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00513.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMIDs: 17273964;22242004).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
OMIM:610768.0; CONGENITAL DISORDERS OF GLYCOSYLATION, OMIM:612379; MONDO:0012556; DOLK-related congenital disorder of glycosylation

Publications

Mode of pathogenicity
Other

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed. DDG2P mode of pathogenicity: all missense/in frame
Created: 19 Nov 2018, 11:29 a.m.
Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.2

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: DOLK was changed from Other to None

4 Oct 2023, Gel status: 3

Set mode of pathogenicity, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene DOLK was changed from Other - please provide details in the comments to Other Publications for gene: DOLK were updated from 17273964; 22242004 to 22242004; 17273964

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

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

Rebecca Foulger (Genomics England curator)

gene: DOLK was added gene: DOLK was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 17273964; 22242004 Phenotypes for gene: DOLK were set to CONGENITAL DISORDERS OF GLYCOSYLATION 612379 Mode of pathogenicity for gene: DOLK was set to Other - please provide details in the comments