Dilated Cardiomyopathy and conduction defectsGene: DMPK
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 9 Nov 2021, 3:25 p.m. | Last Modified: 9 Nov 2021, 3:25 p.m.
Panel Version: 1.73
Myotonic dystrophy 1 OMIM#160900
Created: 25 Mar 2019, 4:30 p.m.
Myotonic dystrophy gene - a few variants found in the lab but main cause of disease is expansion. HGMD - no variant listed with cardiomyopathy
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: DMPK were changed from syndromic DCM to Myotonic dystrophy 1, OMIM:160900
Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Tag nucleotide-repeat-expansion tag was added to gene: DMPK. Tag currently-ngs-unreportable tag was added to gene: DMPK.
Source South West GLH was added to DMPK. Mode of inheritance for gene DMPK was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DMPK was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Expert list