1. Genes and Genomic Entities
  2. DMPK

DMPK

DM1 protein kinase
OMIM: 605377, Gene2Phenotype

27 panels

Panel Reviews Mode of inheritance Details
27 panels
Red DMPK in Skeletal Muscle Channelopathies

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review Other
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion
Red DMPK in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.95

review Other
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Myotonic dystrophy 1, OMIM:160900
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable
Red DMPK in Distal myopathies


Level 2: Neurology
Version 6.16
Latest signed off version: v6.4 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review Other
    Sources
    • Expert Review Red
    • Eligibility statement prior genetic testing
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red DMPK in Gastrointestinal neuromuscular disorders

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.30

    		review Other
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red DMPK in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.97

    		review Other
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red DMPK in Paroxysmal central nervous system disorders


    Level 2: Neurology
    Version 4.2
    Latest signed off version: v4.0 (30 Apr 2025)

    		review Other
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red DMPK in Arthrogryposis


    Level 2: Neurology
    Version 9.24
    Latest signed off version: v9.0 (30 Apr 2025)

    		review Other
    Sources
    • Expert Review Red
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red DMPK in Congenital myopathy


    Level 2: Neurology
    Version 6.45
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review Other
    Sources
    • Expert Review Red
    • UKGTN
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    Red DMPK in Skeletal muscle channelopathy


    Level 2: Neurology
    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Other
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red DMPK in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review Other
    Sources
    • NHS GMS
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red DMPK in Paediatric motor neuronopathies


    Level 2: Neurology
    Version 3.12
    Latest signed off version: v3.9 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review Other
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red DMPK in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    Phenotypes
    • DYSTROPHIA MYOTONICA TYPE 1, OMIM:160900
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red DMPK in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Other
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    Red DMPK in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Other
    Sources
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Green DMPK_CTG STR in Skeletal Muscle Channelopathies

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.48

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR
    Red DMPK_CTG STR in Fetal hydrops

    Level 3: Fetal disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.95

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR
    Red DMPK_CTG STR in Gastrointestinal neuromuscular disorders

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.30

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR
    Red DMPK_CTG STR in Paroxysmal central nervous system disorders


    Level 2: Neurology
    Version 4.2
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR
    Green DMPK_CTG STR in Congenital muscular dystrophy


    Level 2: Neurology
    Version 6.8
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR
    Green DMPK_CTG STR in Congenital myopathy


    Level 2: Neurology
    Version 6.45
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR
    Green DMPK_CTG STR in Skeletal muscle channelopathy


    Level 2: Neurology
    Version 3.8
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR
    Green DMPK_CTG STR in Likely inborn error of metabolism


    Level 2: Metabolic
    Version 8.91
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR
    Green DMPK_CTG STR in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR
    Red DMPK_CTG STR in Paediatric motor neuronopathies


    Level 2: Neurology
    Version 3.12
    Latest signed off version: v3.9 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR
    Green DMPK_CTG STR in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR
    Green DMPK_CTG STR in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR
    Green DMPK_CTG STR in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.41
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • STR