1. Genes and Genomic Entities
  2. DMPK

DMPK

DM1 protein kinase
OMIM: 605377, Gene2Phenotype

28 panels

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

Level 3: Channelopathies
Level 2: Neurology and neurodevelopmental disorders
Version 1.46

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 1.64

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 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.3
Latest signed off version: v4.0 (1 May 2024)

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 1.23

    		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 1.85

    		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


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.3
    Latest signed off version: v6.0 (1 May 2024)

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

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.38
    Latest signed off version: v4.37 (1 May 2024)

    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


    Version 3.5
    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


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    		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 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.7
    Latest signed off version: v3.6 (1 May 2024)

    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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    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


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    		review Other
    Sources
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Myotonic dystrophy 1, OMIM:160900
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Green DMPK in Severe Paediatric Disorders


    Version 1.184

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Next Generation Children Project
    • Expert list
    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 1.46

    		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 1.64

    		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 1.23

    		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


    Version 3.10
    Latest signed off version: v3.0 (22 Mar 2023)

    		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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.24
    Latest signed off version: v4.23 (1 May 2024)

    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 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.38
    Latest signed off version: v4.37 (1 May 2024)

    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


    Version 3.5
    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 - targeted testing not possible


    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    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
    Amber DMPK_CTG STR in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

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

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.7
    Latest signed off version: v3.6 (1 May 2024)

    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 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.11
    Latest signed off version: v6.0 (1 May 2024)

    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 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 6.4
    Latest signed off version: v6.0 (1 May 2024)

    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