DMPK

DM1 protein kinase
OMIM: 605377, Gene2Phenotype

30 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 30 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 3.17 Latest signed off version: v3.0 (22 Mar 2023) 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 Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	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 1.85	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 5.31 Latest signed off version: v5.0 (22 Mar 2023)	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 4.37 Latest signed off version: v4.0 (22 Mar 2023) 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 3.169 Latest signed off version: v3.0 (22 Mar 2023)	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 3.6 Latest signed off version: v3.3 (22 Mar 2023) 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 3.90 Latest signed off version: v3.1 (22 Mar 2023) 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.550 Latest signed off version: v5.0 (22 Mar 2023) 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 3.78 Latest signed off version: v3.0 (22 Mar 2023)	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
Green DMPK_CTG STR in Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	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 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 4.23 Latest signed off version: v4.0 (22 Mar 2023) 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 4.37 Latest signed off version: v4.0 (22 Mar 2023) 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 4.137 Latest signed off version: v4.0 (22 Mar 2023) 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 3.169 Latest signed off version: v3.0 (22 Mar 2023)	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 3.6 Latest signed off version: v3.3 (22 Mar 2023) 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 3.90 Latest signed off version: v3.1 (22 Mar 2023) 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.550 Latest signed off version: v5.0 (22 Mar 2023) 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 4.169 Latest signed off version: v4.0 (22 Mar 2023) 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

DMPK

30 panels

Red DMPK in Skeletal Muscle Channelopathies

Sources

Phenotypes

Tags

Red DMPK in Fetal hydrops

Sources

Phenotypes

Tags

Red DMPK in Distal myopathies

Sources

Phenotypes

Tags

Red DMPK in Gastrointestinal neuromuscular disorders

Sources

Phenotypes

Tags

Red DMPK in Other rare neuromuscular disorders

Sources

Phenotypes

Red DMPK in Dilated Cardiomyopathy and conduction defects

Sources

Phenotypes

Tags

Red DMPK in Paroxysmal central nervous system disorders

Sources

Phenotypes

Tags

Red DMPK in Arthrogryposis

Sources

Phenotypes

Tags

Red DMPK in Congenital myopathy

Sources

Phenotypes

Tags

Red DMPK in Skeletal muscle channelopathy

Sources

Phenotypes

Tags

Red DMPK in Fetal anomalies

Sources

Phenotypes

Tags

Red DMPK in Paediatric motor neuronopathies

Sources

Phenotypes

Tags

Red DMPK in DDG2P

Sources

Phenotypes

Tags

Red DMPK in Intellectual disability - microarray and sequencing

Sources

Phenotypes

Tags

Red DMPK in Childhood onset dystonia, chorea or related movement disorder

Sources

Phenotypes

Tags

Green DMPK in Severe Paediatric Disorders

Sources

Phenotypes

Tags

Green DMPK_CTG STR in Skeletal Muscle Channelopathies

Sources

Phenotypes

Tags

Red DMPK_CTG STR in Fetal hydrops

Sources

Phenotypes

Tags

Red DMPK_CTG STR in Gastrointestinal neuromuscular disorders

Sources

Phenotypes

Tags

Green DMPK_CTG STR in Other rare neuromuscular disorders

Sources

Phenotypes