KMT2B

lysine methyltransferase 2B
OMIM: 606834, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green KMT2B in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.3 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia 28, childhood-onset , MIM#617284
Green KMT2B in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dystonia 28, childhood-onset MIM#617284 Intellectual developmental disorder, autosomal dominant MIM#619934
Red KMT2B in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.418	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Dystonia 28,Childhood-onset DYT28(617284) Intellectual Developmental disorder, Autosomal dominant MRD68(619934)
Green KMT2B in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dystonia 28, childhood-onset 617284 MONDO:0015004
Red KMT2B in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Dystonia 28, childhood-onset MIM#617284 Intellectual developmental disorder, autosomal dominant 68 MIM#619934
Green KMT2B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Dystonia 28, childhood-onset 617284 MONDO:0015004 Intellectual developmental disorder, autosomal dominant 68, MIM# 619934
Green KMT2B in Dystonia - isolated/combined Level 2: Neurology and neurodevelopmental disorders Version 1.37 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes early-onset dystonia Dystonia 28, childhood-onset 617284 MONDO:0015004
Red KMT2B in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Dystonia 28, childhood-onset, MIM#617284