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 1.31

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Eligibility statement prior genetic testing
Phenotypes
  • Myotonia
  • MYOTONIC DYSTROPHY 1 (DM1)
Tags
  • currently-ngs-unreportable
  • nucleotide-repeat-expansion

Red DMPK in Fetal hydrops

Level 3: Fetal disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.29

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Myotonic dystrophy 1, 160900
  • DM1
  • Myotonic dystrophy, congenital onset associated with a high triplet repeat number
Tags
  • nucleotide-repeat-expansion
  • currently-ngs-unreportable

Red DMPK in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.29
Latest signed off version: v1.21 (11 Nov 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Eligibility statement prior genetic testing
    Phenotypes
    • MYOTONIC DYSTROPHY 1 (DM1)

    Red DMPK in Gastrointestinal neuromuscular disorders

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.14

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Myotonic dystrophy 1 160900
    Tags
    • nucleotide-repeat-expansion

    Red DMPK in Neuromuscular disorders


    Version 5.167
    Latest signed off version: v5.43 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    Phenotypes
    • MYOTONIC DYSTROPHY 1 (DM1)
    • Myotonic dystrophy 1 160900
    • spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14.

    Red DMPK in Dilated Cardiomyopathy and conduction defects

    Level 3: Cardiomyopathy
    Level 2: Cardiovascular disorders
    Version 1.70

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • South West GLH
    • Expert list
    Phenotypes
    • syndromic DCM

    Red DMPK in Paroxysmal central nervous system disorders


    Version 1.12
    Latest signed off version: v1.2 (27 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • MYOTONIC DYSTROPHY 1 (DM1)
    • Myotonia

    Red DMPK in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.104
    Latest signed off version: v3.2 (13 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Myotonic dystrophy 1 160900

    Red DMPK in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.28
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • UKGTN
    Phenotypes
    • Myotonic dystrophy 1 160900
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion

    Red DMPK in Skeletal muscle channelopathy


    Version 1.30
    Latest signed off version: v1.2 (2 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • Myotonic dystrophy 1, 160900

    Green DMPK in Fetal anomalies


    Version 1.678
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DYSTROPHIA MYOTONICA TYPE 1

    Red DMPK in Paediatric motor neuronopathies

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.62
    Latest signed off version: v1.30 (4 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • spinal muscular atrophy, myotonic dystrophy (type 1), Prader-Willi syndrome, Angelman syndrome, and maternal UPD 14.
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable

    Green DMPK in DDG2P


    Version 2.28
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • DYSTROPHIA MYOTONICA TYPE 1 160900

    Red DMPK in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1136
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Myotonic dystrophy 1, 160900
    • DYSTROPHIA MYOTONICA TYPE 1 (DM1)
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion

    Amber DMPK in Childhood onset dystonia or chorea or related movement disorder


    Version 1.130
    Latest signed off version: v1.58 (6 Oct 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • London North GLH
    • Expert Review Amber
    Phenotypes
    • Myotonic dystrophy 1, 16090

    Green DMPK in Severe Paediatric Disorders


    Version 1.78

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, 160900

    Green DMPK_CTG STR in Skeletal Muscle Channelopathies

    Level 3: Channelopathies
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.31

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

    Red DMPK_CTG STR in Fetal hydrops

    Level 3: Fetal disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.29

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1 160900
    Tags
    • STR

    Red DMPK_CTG STR in Gastrointestinal neuromuscular disorders

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.14

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1 160900
    Tags
    • STR

    Green DMPK_CTG STR in Neuromuscular disorders


    Version 5.167
    Latest signed off version: v5.43 (4 Mar 2020)

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

    Red DMPK_CTG STR in Paroxysmal central nervous system disorders


    Version 1.12
    Latest signed off version: v1.2 (27 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1 160900
    Tags
    • STR

    Green DMPK_CTG STR in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.8
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Myotonic dystrophy 1 160900
    Tags
    • STR

    Green DMPK_CTG STR in Congenital myopathy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.28
    Latest signed off version: v2.2 (2 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1 160900
    Tags
    • STR

    Green DMPK_CTG STR in Skeletal muscle channelopathy


    Version 1.30
    Latest signed off version: v1.2 (2 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1, 16090

    Green DMPK_CTG STR in Inborn errors of metabolism


    Version 2.141
    Latest signed off version: v2.3 (17 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1 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 1.62
    Latest signed off version: v1.30 (4 Mar 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1 160900
    Tags
    • STR

    Green DMPK_CTG STR in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1136
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Myotonic dystrophy 1 160900
    Tags
    • STR

    Green DMPK_CTG STR in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.42
    Latest signed off version: v2.4 (17 Feb 2020)

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Myotonic dystrophy 1 160900
    Tags
    • STR