Gastrointestinal neuromuscular disorders
Gene: DMPKEnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 17 panels
3 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: 1.16
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: CTG repeat expansion in the 3' UTR region. Information in OMIM indicates that unaffected individuals have between 5 and 37 copies, whereas dystrophia myotonica patients who are minimally affected have at least 50 repeats, while more severely affected patients have expansion of the repeat-containing segment up to several kilobases.Created: 19 Oct 2016, 8:56 a.m.
Comment on list classification: Demoted from green to red due to the disease-causing mechanism - myotonic dystrophy is cause by a CTG repeat expansion in the 3' UTR region of the DMPK gene, rather than loss of function variants within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.
Created: 19 Oct 2016, 8:54 a.m.
Neil shah (GOSH)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Myotonic dystrophy 1, OMIM:160900
- Tags
- OMIM
- 605377
- Clinvar variants
- Variants in DMPK
- Penetrance
- Complete
- Publications
- 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 Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: DMPK were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
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
Arina Puzriakova (Genomics England Curator)Tag currently-ngs-unreportable tag was added to gene: DMPK.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th October 2016: panel revised after expert review and further curation of the analysis, with then internal clinical review. Ready for promotion to version 1.
Set publications
Ellen McDonagh (Genomics England Curator)Publications for DMPK were set to 27695335;27358583;27253733; 26640575;26586700
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for DMPK was changed to Other - please provide details in the comments
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for DMPK were set to Myotonic dystrophy 1 160900
Added New Source
Sarah Leigh (Genomics England Curator)DMPK was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)DMPK was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Sarah Leigh (Genomics England Curator)DMPK was added to Neonatal and familial gastrointestinal neuromuscular disorderspanel. Sources: UKGTN
Created
Sarah Leigh (Genomics England Curator)DMPK was created by sleigh