Genomics England

lysine methyltransferase 2B

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Adult onset dystonia, chorea or related movement disorder R-numbers: R56 Signed-off version 3.19	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia 28, childhood-onset, OMIM:617284
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia 28, childhood-onset, OMIM:617284, Complex early-onset dystonia
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Complex early-onset dystonia
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia 28, childhood-onset, OMIM:617284, Intellectual developmental disorder, autosomal dominant 68, OMIM:619934
Green in Severe microcephaly R-numbers: R88 Signed-off version 5.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia 28, childhood-onset, OMIM:617284, Intellectual developmental disorder, autosomal dominant 68, OMIM:619934