Variant: rs781978013 

    present in Gene: KMT2A
    present in Chromosome: 11
    Position on Chromosome: 118472681
    Alleles of this Variant: G/A;T

rs781978013 in KMT2A gene and Dysmorphic features PMID 8634439 1996 Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites.

PMID 8361504 1993 Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.

PMID 27777327 2017 Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

PMID 25574841 2015 Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

PMID 7583381 1995 Abnormalities of chromosome band 11q23 and the MLL gene in pediatric myelomonocytic and monoblastic leukemias. Identification of the t(9;11) as an indicator of long survival.

PMID 24886118 2014 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

PMID 7802037 1994 "Hypertrichosis ""cubiti"" with facial asymmetry."

PMID 27759909 2017 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 2738900 1989 Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

PMID 25186178 2014 Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 25810209 2016 Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

PMID 28359930 2017 Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 25929198 2015 A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

PMID 22795537 2012 De novo mutations in MLL cause Wiedemann-Steiner syndrome.

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

PMID 20541448 2010 Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis.

PMID 23457195 2013 Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

PMID 12453418 2002 MLL targets SET domain methyltransferase activity to Hox gene promoters.

rs781978013 in KMT2A gene and Multiple congenital anomalies PMID 24886118 2014 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

PMID 20541448 2010 Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis.

PMID 2738900 1989 Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 22795537 2012 De novo mutations in MLL cause Wiedemann-Steiner syndrome.

PMID 23457195 2013 Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 25186178 2014 Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.

PMID 12453418 2002 MLL targets SET domain methyltransferase activity to Hox gene promoters.

PMID 27759909 2017 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

PMID 25574841 2015 Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

PMID 28359930 2017 Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

PMID 25810209 2016 Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 27777327 2017 Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

PMID 8361504 1993 Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.

PMID 7802037 1994 "Hypertrichosis ""cubiti"" with facial asymmetry."

PMID 8634439 1996 Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites.

PMID 25929198 2015 A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

PMID 7583381 1995 Abnormalities of chromosome band 11q23 and the MLL gene in pediatric myelomonocytic and monoblastic leukemias. Identification of the t(9;11) as an indicator of long survival.

rs781978013 in KMT2A gene and Overgrowth PMID 27777327 2017 Wiedemann-Steiner Syndrome With 2 Novel KMT2A Mutations.

PMID 2738900 1989 Hypertrichosis cubiti (hairy elbows) and short stature: a recognisable association.

PMID 27759909 2017 Further delineation of the phenotype of truncating KMT2A mutations: The extended Wiedemann-Steiner syndrome.

PMID 26795593 2016 Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.

PMID 8634439 1996 Distribution of 11q23 breakpoints within the MLL breakpoint cluster region in de novo acute leukemia and in treatment-related acute myeloid leukemia: correlation with scaffold attachment regions and topoisomerase II consensus binding sites.

PMID 28359930 2017 Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature.

PMID 25574841 2015 Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

PMID 25929198 2015 A de novo Mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome.

PMID 25724810 2015 Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.

PMID 25186178 2014 Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome.

PMID 7583381 1995 Abnormalities of chromosome band 11q23 and the MLL gene in pediatric myelomonocytic and monoblastic leukemias. Identification of the t(9;11) as an indicator of long survival.

PMID 25810209 2016 Delineation of clinical features in Wiedemann-Steiner syndrome caused by KMT2A mutations.

PMID 24886118 2014 De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing.

PMID 20711175 2010 Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

PMID 23457195 2013 Primary mediastinal large B-cell lymphoma segregating in a family: exome sequencing identifies MLL as a candidate predisposition gene.

PMID 8361504 1993 Rearrangement of the MLL gene in acute lymphoblastic and acute myeloid leukemias with 11q23 chromosomal translocations.

PMID 20541448 2010 Multiple interactions recruit MLL1 and MLL1 fusion proteins to the HOXA9 locus in leukemogenesis.

PMID 22795537 2012 De novo mutations in MLL cause Wiedemann-Steiner syndrome.

PMID 7802037 1994 "Hypertrichosis ""cubiti"" with facial asymmetry."

PMID 22197486 2012 Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome.

PMID 12453418 2002 MLL targets SET domain methyltransferase activity to Hox gene promoters.

PMID 22077973 2011 Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.