Skeletal Muscle Channelopathies
Gene: DMPKComment 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
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
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
Comment when marking as ready: Marked as red because mutations are nucleotide expansionsCreated: 21 Jan 2017, 12:48 p.m.
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
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.
Mode of inheritance for gene: DMPK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Phenotypes for gene: DMPK were changed from Myotonia; MYOTONIC DYSTROPHY 1 (DM1) to Myotonic dystrophy 1, OMIM:160900
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Mode of inheritance for DMPK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of inheritance for DMPK was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
DMPK was added to Skeletal Muscle Channelopathiespanel. Sources: Eligibility statement prior genetic testing