Genomics England

DMPK_CTG

DM1 protein kinase

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Congenital muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R79 Signed-off version 4.15	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 4.33	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900
Green in Skeletal muscle channelopathy R-numbers: R76 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900