Cardiomyopathies - including childhood onsetGene: DOLK
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
Congenital disorder of glycosylation, type Im OMIM#610768
Created: 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
Source NHS GMS was added to DOLK.
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