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| Dilated Cardiomyopathy and conduction defects v1.55 | DOLK | Rebecca Whittington commented on gene: DOLK: Congenital disorder of glycosylation, type Im OMIM#610768 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.54 | DOLK | Rebecca Whittington commented on gene: DOLK: AR DCM is a key feature from birth:he second family reported by Kranz et al. (2007) 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. A 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 - see Lefeber 2011 - case series which segregates with disease - 1 teenage and other cases 9/10 year olds. One case in the lab of a teenager with DCM and two variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.53 | DOLK | Rebecca Whittington reviewed gene: DOLK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy and conduction defects v1.47 | DOLK |
Ellen McDonagh Source South West GLH was added to DOLK. Mode of inheritance for gene DOLK was changed from to BIALLELIC, autosomal or pseudoautosomal |
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