Congenital muscular dystrophy
Gene: DOLKEnsemblGeneIds (GRCh38): ENSG00000175283
EnsemblGeneIds (GRCh37): ENSG00000175283
OMIM: 610746, Gene2Phenotype
DOLK is in 13 panels
4 reviews
Louise Daugherty (Genomics England Curator)
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.
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)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CDG Im
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London South GLH
- Expert Review Green
- Phenotypes
-
- Congenital disorder of glycosylation, type Im, OMIM:610768
- OMIM
- 610746
- Clinvar variants
- Variants in DOLK
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Dilated and arrhythmogenic cardiomyopathy
- Early onset or syndromic epilepsy
- DDG2P
- Dilated Cardiomyopathy and conduction defects
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DOLK were changed from Congenital disorder of glycosylation, type Im to Congenital disorder of glycosylation, type Im, OMIM:610768
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene DOLK were changed from 23890587; 22242004; 17273964 to 17273964; 22242004; 23890587
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to DOLK.
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)
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27.01.2017 Panel revised after expert review and internal review with further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DOLK were set to 23890587;22242004;17273964
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for DOLK were set to Congenital disorder of glycosylation, type Im
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Created
Emma Clement (Great Ormond Street Hospital)DOLK was created by eclement
Added New Source
Emma Clement (Great Ormond Street Hospital)DOLK was added to Congenital muscular dystrophypanel. Sources: Expert Review