Distal myopathies

Gene: DMPK

Red List (low evidence)

DMPK (DM1 protein kinase)
EnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 19 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

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

Phenotypes
Myotonic dystrophy 1, 160900

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.

20 Feb 2017, Gel status: 1

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Feb 2017, Gel status: 0

Set mode of pathogenicity

Arianna Tucci (Genomics England Curator)

Mode of pathogenicity for DMPK was changed to Other - please provide details in the comments

20 Feb 2017, Gel status: 0

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

Mode of inheritance for DMPK was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DMPK was added to Distal myopathiespanel. Sources: Eligibility statement prior genetic testing