KMT2B

lysine methyltransferase 2B
OMIM: 606834, ClinGen, DECIPHER

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 2.10 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	2 reviews	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 1.389	3 reviews	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 0.430	2 reviews	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 1.2302	1 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 1.108 Component of the following Super Panels: Progressive Neurological Conditions	1 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 1.63	1 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 Progressive Neurological Conditions Tremors_Superpanel	2 reviews	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 1.313	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Dystonia 28, childhood-onset, MIM#617284