Congenital muscular dystrophy

Gene: DOLK

Green List (high evidence)

DOLK (dolichol kinase)
EnsemblGeneIds (GRCh38): ENSG00000175283
EnsemblGeneIds (GRCh37): ENSG00000175283
OMIM: 610746, Gene2Phenotype
DOLK is in 15 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Im

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene promoted from red to green due to expert review and >3 unrelated family reports.
Created: 6 Jan 2017, 9:26 a.m.

Emma Clement (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CDG Im

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene DOLK were changed from 23890587; 22242004; 17273964 to 17273964; 22242004; 23890587

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DOLK.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to DOLK. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

6 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

6 Jan 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DOLK were set to 23890587;22242004;17273964

6 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

6 Jan 2017, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for DOLK were set to Congenital disorder of glycosylation, type Im

19 Dec 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Dec 2016, Gel status: 0

Created

Emma Clement (Great Ormond Street Hospital)

DOLK was created by eclement

19 Dec 2016, Gel status: 0

Added New Source

Emma Clement (Great Ormond Street Hospital)

DOLK was added to Congenital muscular dystrophypanel. Sources: Expert Review