This Panel is marked as Internal
Congenital muscular dystrophy and congenital myopathy
Gene: DOLK
DOLK (dolichol kinase)
EnsemblGeneIds (GRCh38): ENSG00000175283
EnsemblGeneIds (GRCh37): ENSG00000175283
OMIM: 610746, Gene2Phenotype
DOLK is in 13 panels
EnsemblGeneIds (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
-
- London South GLH
- Expert Review Green
- Expert Review
- NHS GMS
- Phenotypes
-
- Congenital disorder of glycosylation, type Im, OMIM:610768
- OMIM
- 610746
- Clinvar variants
- Variants in DOLK
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Congenital disorders of glycosylation
- Likely inborn error of metabolism
- Childhood onset dystonia, chorea or related movement disorder
- Intellectual disability
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Dilated Cardiomyopathy and conduction defects
- Fetal anomalies
- DDG2P
- Arthrogryposis
- Dilated and arrhythmogenic cardiomyopathy
- Congenital muscular dystrophy
History Filter Activity
6 Feb 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: DOLK was added gene: DOLK was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review,Expert Review Green,London South GLH Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 17273964; 22242004; 23890587 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im, OMIM:610768 Penetrance for gene: DOLK were set to Complete