Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 GeneticVariation group BEFREE Childhood-onset progressive dystonia with orofacial involvement is one of the main clinical manifestations of KMT2B mutations. 31165786 2019
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 GeneticVariation group BEFREE We observed a spectrum of clinical manifestations in KMT2B variant carriers, ranging from generalized dystonia to short stature or intellectual disability alone, even within the same family. 31216378 2019
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 GeneticVariation group BEFREE The mutations in patients 2 and 3 (c.3602dupC, p.M1202Dfs*22; c.4229delA, p.Q1410Rfs*12) lead to predicted unstable transcripts, likely to be subject to degradation by non-sense mediated decay.Childhood-onset progressive dystonia with orofacial involvement is one of the main clinical manifestations of KMT2B mutations. 31388109 2019
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 Biomarker group BEFREE DYT-KMT2B is emerging as a prevalent monogenic dystonia. 31768667 2019
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 Biomarker group BEFREE We further expand the phenotypic spectrum of KMT2B-related disorders and show that some individuals can have severe developmental delay without dystonia at least until mid-childhood. 29276005 2018
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 GeneticVariation group BEFREE Mutations in Lysine-Specific Histone Methyltransferase 2B gene (KMT2B) have been reported to be associated with complex early-onset dystonia. 29653907 2018
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 Biomarker group BEFREE The identification of KMT2B-vulnerable targets allowed us, in turn, to expose, in a cohort of 225 patients, 45 unique variants in 39 KMT2B targets, which represent promising candidates to dissect the molecular bases of dystonia. 30355503 2018
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 GeneticVariation group BEFREE Herein, we review variants in KMT2B associated with dystonia, as well as the clinical phenotype, treatment and underlying disease mechanisms. 29289525 2018
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 Biomarker group BEFREE We finally discuss selected novel genes for dystonia such as KMT2B and VAC14 along with the challenges for gene identification in the NGS era and the translational importance of dystonia genetics in clinical practice. 28283962 2017
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 GeneticVariation group BEFREE Mutations in ADCY5 and PDE10A have been identified as important causes of childhood-onset dyskinesias and KMT2B mutations as one of the most frequent causes of complex dystonia in children. 29086067 2017
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 GeneticVariation group BEFREE Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. 27992417 2017
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 GeneticVariation group BEFREE Rare missense variation in KMT2B represents an additional cause of generalized dystonia. 28520167 2017
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 GeneticVariation group BEFREE Whole-exome-sequencing-based exploration of a further 30 German-Austrian individuals with early-onset generalized dystonia uncovered another three deleterious mutations in KMT2B-one de novo nonsense mutation (c.1633C>T [p.Arg545<sup>∗</sup>]), one de novo essential splice-site mutation (c.7050-2A>G [p.Phe2321Serfs<sup>∗</sup>93]), and one inherited nonsense mutation (c.2428C>T [p.Gln810<sup>∗</sup>]) co-segregating with dystonia in a three-generation kindred. 27839873 2016
Entrez Id: 9757
Gene Symbol: KMT2B
KMT2B
0.400 Biomarker group CTD_human