Paediatric or syndromic cardiomyopathy
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
2 reviews
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Rebecca Whittington (South West GLH)
Congenital disorder of glycosylation, type Im OMIM#610768Created: 25 Mar 2019, 4:30 p.m.
AR DCM is a key feature from birth: A family reported by Kranz (2007) Am J Hum Genet 80: 433 PubMed: 17273964 included 2 affected sibs born of consanguineous Turkish parents. In the first sib, ichthyosis congenita with inflammation of the skin was present at birth. At age 5 months, progressive hair loss was nearly complete, with sparse eyelashes and eyebrows. Dilated cardiomyopathy was present from birth and persisted throughout life. Severe muscular hypotonia was present and death occurred at home at age 7 months, most likely from aspiration. Sister showed muscular hypotonia at birth, and progressive dilated cardiomyopathy developed shortly after birth. Lefeber et al (2011) PlosGenet 7(12):e1002427.Infantile to late childhood onset. But teens can be affected - case series which segregates with disease - 1 teenage and other cases 9/10 year olds.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Green
- Phenotypes
-
- Congenital disorder of glycosylation, type Im
- Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
- Congenital disorder of glycosylation, type Im 610768
- syndromic DCM
- OMIM
- 610746
- Clinvar variants
- Variants in DOLK
- Penetrance
- None
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Paediatric or syndromic cardiomyopathy
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Arthrogryposis
- Early onset or syndromic epilepsy
- Dilated Cardiomyopathy and conduction defects
- Intellectual disability
- Fetal anomalies
- Dilated and arrhythmogenic cardiomyopathy
- DDG2P
- Congenital muscular dystrophy
History Filter Activity
2 Dec 2019, Gel status: 3
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to DOLK.
4 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: DOLK was added gene: DOLK was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,South West GLH Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DOLK were set to 23890587; 17273964; 22242004 Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im; Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways); Congenital disorder of glycosylation, type Im 610768; syndromic DCM