DMPK_CTG

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
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 9.285 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