KMT2B

lysine methyltransferase 2B
OMIM: 606834, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green KMT2B in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Dystonia 28, childhood-onset, OMIM:617284 early-onset dystonia Tags treatable
Green KMT2B in Structural basal ganglia disorders Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.40	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Dystonia 28, childhood-onset, OMIM:617284 early-onset dystonia Tags treatable
Green KMT2B in Severe microcephaly Level 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Literature Phenotypes Dystonia 28, childhood-onset, OMIM:617284 Intellectual developmental disorder, autosomal dominant 68, OMIM:619934
Red KMT2B in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia 28, childhood-onset, OMIM:617284 early-onset dystonia Tags treatable
Green KMT2B 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 PAGE DD-Gene2Phenotype Phenotypes Intellectual developmental disorder, autosomal dominant 68, OMIM:619934 Complex early-onset dystonia Dystonia 28, childhood-onset, OMIM:617284
Green KMT2B 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, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Complex early-onset dystonia
Green KMT2B in Intellectual disability Level 2: Developmental disorders Version 9.279 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, imprinted status unknown	Sources NHS GMS Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dystonia 28, childhood-onset, OMIM:617284 Intellectual developmental disorder, autosomal dominant 68, OMIM:619934
Green KMT2B in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS London North GLH Expert Review Green Phenotypes Dystonia 28, childhood-onset, OMIM:617284
Green KMT2B in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PanelApp Expert Review Green London North GLH Phenotypes Dystonia 28, childhood-onset, OMIM:617284 Complex early-onset dystonia