Distal myopathiesGene: DMPK
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Created: 9 Nov 2021, 3:24 p.m. | Last Modified: 9 Nov 2021, 3:24 p.m.
Panel Version: 1.37
Comment when marking as ready: Marked as red because the mutation type is an expansion, and currently NGS unreportable (tags added too)
Created: 20 Feb 2017, 4:01 p.m.
Comment on mode of pathogenicity: Repeat expansion in the 3'UTR
Created: 20 Feb 2017, 4 p.m.
in differential with distal myopathies
Created: 1 Feb 2017, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Myotonic dystrophy 1, 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.
Phenotypes for gene: DMPK were changed from MYOTONIC DYSTROPHY 1 (DM1) to Myotonic dystrophy 1, OMIM:160900
Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.
This gene has been classified as Red List (Low Evidence).
Mode of pathogenicity for DMPK was changed to Other - please provide details in the comments
Mode of inheritance for DMPK was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
DMPK was added to Distal myopathiespanel. Sources: Eligibility statement prior genetic testing