Skeletal Muscle Channelopathies

Gene: DMPK

Red List (low evidence)

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

5 reviews

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Green List (high evidence)

Please note that there is a very specific mutational mechanism for myotonia dystrophica i.e. expansion. Our pevious work has shown that biallelic LOF is clinical inconsequential (see PMID: 26141664).
Created: 22 Feb 2017, 3:38 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)

Green List (high evidence)

Please note that there is a very specific mutational mechanism for myotonia dystrophica i.e. expansion. Our pevious work has shown that biallelic LOF is clinical inconsequential (see PMID: 26141664).
Created: 22 Feb 2017, 3:31 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Arianna Tucci (Genomics England Curator)

Comment when marking as ready: Marked as red because mutations are nucleotide expansions
Created: 21 Jan 2017, 12:48 p.m.

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Red List (low evidence)

A differential diagnosis of myotonia and paromyotonia congenita is Myotonic Dystrophy 1. The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000)
Created: 10 Jan 2017, 12:29 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
myotonic dystrophy 1

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Sourced from OMIM.
Created: 10 Jun 2016, 3:04 p.m.
Comment on list classification: This gene is in the genetic muscle channel diseases section in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual, for testing of Myotonia and Myotonic Dystrophy: "Genetic anticipation is a prominent feature in many myotonic dystrophy families. If the diagnosis is suspected the first test is a genetic test for DM1 (DMPK). If this is negative then the DM2 gene (CNBP) should be tested. If there is myotonia then a further differential diagnosis is the myotonia and paromyotonia congenitas as discussed below."
Created: 10 Jun 2016, 3:01 p.m.

History Filter Activity

22 Feb 2017, Gel status: 1

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.

21 Jan 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).

21 Jan 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).

10 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for DMPK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 Jun 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for DMPK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DMPK was added to Skeletal Muscle Channelopathiespanel. Sources: Eligibility statement prior genetic testing