Congenital muscular dystrophy and congenital myopathy
Gene: DMPKEnsemblGeneIds (GRCh38): ENSG00000104936
EnsemblGeneIds (GRCh37): ENSG00000104936
OMIM: 605377, Gene2Phenotype
DMPK is in 17 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 9 Nov 2021, 3:26 p.m. | Last Modified: 9 Nov 2021, 3:26 p.m.
Panel Version: 2.65
Louise Daugherty (Genomics England Curator)
Entity type Gene is rated Red, the STR rated as Green was added 2019 due to changes to tiering capabilities of the pipelineCreated: 16 Oct 2019, 4:38 p.m. | Last Modified: 16 Oct 2019, 4:38 p.m.
Panel Version: 1.169
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myotonic dystrophy 1 160900
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Remains red, as although it is a differential for a weak infant, it is not currently detectable by NGS (triplet repeat expansion). Tagged as such but remains red as not appropriate for use in tiering at present.Created: 22 Feb 2017, 9:58 a.m.
Congenital myotonic dystrophy is a major differential for a floppy / weak infant. Triplet repeat expansion causes the disease.Created: 16 Feb 2017, 2:03 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myotonic dystrophy 1 160900
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Red
- UKGTN
- Phenotypes
-
- Myotonic dystrophy 1, OMIM:160900
- Tags
- OMIM
- 605377
- Clinvar variants
- Variants in DMPK
- Penetrance
- Complete
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Gastrointestinal neuromuscular disorders
- Dilated Cardiomyopathy and conduction defects
- Skeletal muscle channelopathy
- Fetal hydrops
- Distal myopathies
- Arthrogryposis
- Paroxysmal central nervous system disorders
- Mitochondrial disorders
- Likely inborn error of metabolism
- Intellectual disability
- Congenital myopathy
- Paediatric motor neuronopathies
- Fetal anomalies
- DDG2P
- Skeletal Muscle Channelopathies
- Congenital muscular dystrophy
History Filter Activity
Created, Added New Source, Added Tag, Set mode of inheritance, Set Phenotypes, Set penetrance, Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)gene: DMPK was added gene: DMPK was added to Congenital muscular dystrophy and congenital myopathy. Sources: UKGTN,Expert Review Red nucleotide-repeat-expansion, currently-ngs-unreportable tags were added to gene: DMPK. Mode of inheritance for gene: DMPK was set to Other Phenotypes for gene: DMPK were set to Myotonic dystrophy 1, OMIM:160900 Penetrance for gene: DMPK were set to Complete Mode of pathogenicity for gene: DMPK was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments