KMT2A, lysine methyltransferase 2A, 4297

N. diseases: 535; N. variants: 65
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene. 30549396 2019
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE To date, 92 different mutations of KMT2A have been curated in the human gene mutation database (HGMD), resulting in Wiedemann-Steiner syndrome (WDSTS) and intellectual disability (ID)/developmental delay (DD). 30841869 2019
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE A novel de novo mutation (p.Pro1310Glnfs*46) in KMT2A caused Wiedemann-Steiner Syndrome in a Chinese boy with postnatal growth retardation: a case report. 31250358 2019
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 Biomarker disease BEFREE Furthermore, the infant reported here had many of the features seen in Wiedemann-Steiner syndrome which is caused by MLL1 defects. 29633245 2018
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE Wiedemann-Steiner syndrome (WDSTS) is a rare genetic disorder characterized by facial gestalt, neurodevelopmental delay, skeletal anomalies and growth retardation, which is caused by variation of KMT2A gene. 30305169 2018
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE Up to now, the majority of KMT2A variants are non-sense and frameshift variants causing a typical form of Wiedemann-Steiner syndrome. 29203834 2018
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE Among them, heterozygous de novo variants in KMT2A, a gene coding for histone methyltransferase, have been associated with Wiedemann-Steiner syndrome (WSS), a rare developmental disorder mainly characterized by intellectual disability (ID) and hypertrichosis. 30014449 2018
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE Exome sequencing analysis of these patients and their parents revealed a de novo nonsense mutation, p.Gln1978*, of KMT2A in the former, and a missense mutation, p.Gly1168Asp, in the latter, which molecularly confirmed the diagnosis of Wiedemann-Steiner syndrome. 27777327 2017
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 Biomarker disease BEFREE Whole exome sequencing revealed KMT2A-associated Wiedemann-Steiner syndrome in one sibling pair and their mother. 28623346 2017
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE We summarized the clinical features of WDSTS associated with KMT2A mutation and discussed the cardinal symptoms in detail. 28815892 2017
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease CLINVAR Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. 27441994 2017
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome. 27759909 2017
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545 2016
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A. 27320412 2016
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE Using whole exome sequencing and comparative genome hybridization array, we identified a de novo MLL/KMT2A gene nonsense mutation which explains the WDSTS phenotype. 26544196 2015
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome. 25929198 2015
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease CLINVAR Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes. 25724810 2015
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features. 25574841 2015
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 Biomarker disease GENOMICS_ENGLAND CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors. 25294932 2014
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing. 24886118 2014
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL). 24818805 2014
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GermlineCausalMutation disease ORPHANET De novo mutations in MLL cause Wiedemann-Steiner syndrome. 22795537 2012
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 GeneticVariation disease BEFREE De novo mutations in MLL cause Wiedemann-Steiner syndrome. 22795537 2012
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 CausalMutation disease CLINVAR
Growth Deficiency and Mental Retardation with Facial Dysmorphism
0.800 Biomarker disease CTD_human