Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

Fetal anomalies
Gene: DOLK

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)

I don't know

Microcephaly is acquired, and DCM described in early childhood. Typical presentation is with seizures and hypotonia.
Created: 6 Dec 2021, 9:54 a.m. | Last Modified: 6 Dec 2021, 9:54 a.m.

Panel Version: 0.1072

DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768
Created: 19 Dec 2020, 2:16 a.m. | Last Modified: 19 Dec 2020, 2:16 a.m.

Panel Version: 0.3281

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, 2:16 a.m.
Last Modified: 19 Dec 2020, 2:16 a.m.
Panel version: 0.1072

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Genomics England PanelApp
Genetic Health Queensland

Phenotypes

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

OMIM

Clinvar variants

Variants in DOLK

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Dec 2021, 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).

6 Dec 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DOLK were changed from CONGENITAL DISORDERS OF GLYCOSYLATION to DK1-CDG, MONDO:0012556; Congenital disorder of glycosylation, type Im, MIM# 610768

6 Dec 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DOLK were set to 28816422

6 Dec 2021, Gel status: 2

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Dec 2021, 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).

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DOLK was added gene: DOLK was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 28816422 Phenotypes for gene: DOLK were set to CONGENITAL DISORDERS OF GLYCOSYLATION Mode of pathogenicity for gene: DOLK was set to Other