Genomics England

DMPK_CTG

DM1 protein kinase

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Congenital muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R79 Signed-off version 7.26	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 7.77	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 8.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900
Green in Likely inborn error of metabolism Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.29	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900
Green in Mitochondrial disorders Component of the following Super Panels: - Leukodystrophy, childhood onset Signed-off version 10.18	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900
Green in Skeletal muscle channelopathy R-numbers: R76 Signed-off version 3.9	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Myotonic dystrophy 1, OMIM:160900