Genomics England

KMT2B

lysine methyltransferase 2B

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Complex early-onset dystonia
Green in Dystonia, chorea or related movement disorder, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.7	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia 28, childhood-onset, OMIM:617284
Green in Dystonia, chorea or related movement disorder, childhood onset R-numbers: R57 Signed-off version 8.13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia 28, childhood-onset, OMIM:617284, Complex early-onset dystonia
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Intellectual developmental disorder, autosomal dominant 68, OMIM:619934, Complex early-onset dystonia, Dystonia 28, childhood-onset, OMIM:617284
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, 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 9.13	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Dystonia 28, childhood-onset, OMIM:617284, Intellectual developmental disorder, autosomal dominant 68, OMIM:619934