Skeletal Muscle Channelopathies
Gene: DMPKEnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 17 panels
6 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 3:23 p.m. | Last Modified: 9 Nov 2021, 3:23 p.m.
Panel Version: 1.40
Fowzan ALKURAYA (King Faisal Specialist Hospital and Research Center)
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)
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 expansionsCreated: 21 Jan 2017, 12:48 p.m.
Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)
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.
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Eligibility statement prior genetic testing
- Phenotypes
-
- Myotonic dystrophy 1, OMIM:160900
- Tags
- OMIM
- 605377
- Clinvar variants
- Variants in DMPK
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial disorders
- DDG2P
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Distal myopathies
- Skeletal muscle channelopathy
- Fetal hydrops
- Likely inborn error of metabolism
- Paediatric motor neuronopathies
- Congenital myopathy
- Arthrogryposis
- Skeletal Muscle Channelopathies
- Fetal anomalies
- Paroxysmal central nervous system disorders
- Congenital muscular dystrophy
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DMPK were changed from Myotonia; MYOTONIC DYSTROPHY 1 (DM1) to Myotonic dystrophy 1, OMIM:160900
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.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DMPK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for DMPK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)DMPK was added to Skeletal Muscle Channelopathiespanel. Sources: Eligibility statement prior genetic testing