Distal myopathies
Gene: DMPKEnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 17 panels
2 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 3:24 p.m. | Last Modified: 9 Nov 2021, 3:24 p.m.
Panel Version: 1.37
Arianna Tucci (Genomics England Curator)
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'UTRCreated: 20 Feb 2017, 4 p.m.
in differential with distal myopathiesCreated: 1 Feb 2017, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myotonic dystrophy 1, 160900
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
- Mode of Pathogenicity
- Other - please provide details in the comments
- 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, NOT imprinted to Other
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag nucleotide-repeat-expansion tag was added to gene: DMPK. Tag currently-ngs-unreportable tag was added to gene: DMPK.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DMPK were changed from MYOTONIC DYSTROPHY 1 (DM1) to Myotonic dystrophy 1, OMIM:160900
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.
Gene classified by Genomics England curator
Arianna Tucci (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set mode of pathogenicity
Arianna Tucci (Genomics England Curator)Mode of pathogenicity for DMPK was changed to Other - please provide details in the comments
Set Mode of Inheritance
Arianna Tucci (Genomics England Curator)Mode of inheritance for DMPK was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)DMPK was added to Distal myopathiespanel. Sources: Eligibility statement prior genetic testing