Gene: KMT2D

Alternate names for this Gene: AAD10|ALR|CAGL114|KABUK1|KMS|MLL2|MLL4|TNRC21

Gene Summary: The protein encoded by this gene is a histone methyltransferase that methylates the Lys-4 position of histone H3. The encoded protein is part of a large protein complex called ASCOM, which has been shown to be a transcriptional regulator of the beta-globin and estrogen receptor genes. Mutations in this gene have been shown to be a cause of Kabuki syndrome.

Gene is located in Chromosome: 12

Location in Chromosome : 12q13.12

Description of this Gene: lysine methyltransferase 2D

Type of Gene: protein-coding

rs10875914 in KMT2D gene and Bipolar Disorder PMID 28115744 2018 A genome-wide association study identifies two novel susceptibility loci and trans population polygenicity associated with bipolar disorder.

rs1057516039 in KMT2D gene and Cleft palate, isolated PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1555184787 in KMT2D gene and Dysmorphic features PMID 16603732 2006 Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 27991736 2017 KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

PMID 27778401 2017 Pilomatricoma Associated with Kabuki Syndrome.

PMID 26194542 2016 Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

PMID 14699623 2004 Hepatic fibrosis in Kabuki syndrome.

PMID 26898171 2016 Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

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

PMID 26049589 2015 Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 27573763 2016 A novel KMT2D mutation resulting in Kabuki syndrome: A case report.

PMID 14608645 2003 Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

PMID 23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PMID 12482968 2003 Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.

PMID 27568880 2016 Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 22304445 2013 Multiple pilomatricomas in Kabuki syndrome.

PMID 22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

PMID 28256057 2017 Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

PMID 28884889 2017 Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

PMID 28884922 2017 Congenital heart defects in molecularly proven Kabuki syndrome patients.

PMID 28295206 2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

PMID 9285441 1997 Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

PMID 3067577 1988 Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

rs10875914 in KMT2D gene and Intelligence PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

rs1057516039 in KMT2D gene and Kabuki make-up syndrome PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 27302555 2016 Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

PMID 23913813 2013 MLL2 and KDM6A mutations in patients with Kabuki syndrome.

PMID 22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 21607748 2011 A mutation screen in patients with Kabuki syndrome.

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

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PMID 24739679 2014 Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

PMID 29255178 2017 Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.

PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

PMID 19625956 2009 Further evidence of dominant inheritance of Kabuki syndrome.

PMID 24633898 2014 Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients.

PMID 26512256 2015 Kabuki syndrome: clinical and molecular characteristics.

PMID 26300940 2015 The strong association of left-side heart anomalies with Kabuki syndrome.

PMID 28295206 2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

PMID 28884922 2017 Congenital heart defects in molecularly proven Kabuki syndrome patients.

PMID 25755104 2015 Speech and language in a genotyped cohort of individuals with Kabuki syndrome.

rs587783685 in KMT2D gene and Movement Disorders PMID 27568880 2016 Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

PMID 27573763 2016 A novel KMT2D mutation resulting in Kabuki syndrome: A case report.

PMID 28256057 2017 Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

PMID 28884922 2017 Congenital heart defects in molecularly proven Kabuki syndrome patients.

PMID 3067577 1988 Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

PMID 27991736 2017 KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

PMID 27778401 2017 Pilomatricoma Associated with Kabuki Syndrome.

PMID 28884889 2017 Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

PMID 26194542 2016 Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

PMID 26049589 2015 Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

PMID 28295206 2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

PMID 26898171 2016 Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

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

PMID 22304445 2013 Multiple pilomatricomas in Kabuki syndrome.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 14699623 2004 Hepatic fibrosis in Kabuki syndrome.

PMID 22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

PMID 23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PMID 14608645 2003 Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 16603732 2006 Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.

PMID 12482968 2003 Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

PMID 9285441 1997 Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

rs1555184787 in KMT2D gene and Multiple congenital anomalies PMID 26194542 2016 Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

PMID 22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

PMID 28295206 2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

PMID 22304445 2013 Multiple pilomatricomas in Kabuki syndrome.

PMID 27573763 2016 A novel KMT2D mutation resulting in Kabuki syndrome: A case report.

PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

PMID 28884922 2017 Congenital heart defects in molecularly proven Kabuki syndrome patients.

PMID 9285441 1997 Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

PMID 26898171 2016 Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

PMID 28256057 2017 Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

PMID 27568880 2016 Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

PMID 26049589 2015 Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

PMID 27991736 2017 KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

PMID 23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PMID 27778401 2017 Pilomatricoma Associated with Kabuki Syndrome.

PMID 28884889 2017 Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 3067577 1988 Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 12482968 2003 Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.

PMID 14699623 2004 Hepatic fibrosis in Kabuki syndrome.

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

PMID 14608645 2003 Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 16603732 2006 Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.

rs587783685 in KMT2D gene and Muscle hypotonia PMID 28884922 2017 Congenital heart defects in molecularly proven Kabuki syndrome patients.

PMID 9285441 1997 Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

PMID 28295206 2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

PMID 3067577 1988 Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

PMID 28884889 2017 Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

PMID 27573763 2016 A novel KMT2D mutation resulting in Kabuki syndrome: A case report.

PMID 27991736 2017 KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

PMID 28256057 2017 Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

PMID 26898171 2016 Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

PMID 27568880 2016 Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

PMID 22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

PMID 26194542 2016 Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

PMID 14608645 2003 Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

PMID 27778401 2017 Pilomatricoma Associated with Kabuki Syndrome.

PMID 23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PMID 22304445 2013 Multiple pilomatricomas in Kabuki syndrome.

PMID 12482968 2003 Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.

PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

PMID 26049589 2015 Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

PMID 16603732 2006 Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.

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

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 14699623 2004 Hepatic fibrosis in Kabuki syndrome.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

rs1555186842 in KMT2D gene and Overgrowth PMID 22304445 2013 Multiple pilomatricomas in Kabuki syndrome.

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

PMID 12482968 2003 Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins.

PMID 26194542 2016 Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.

PMID 21280141 2011 MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

PMID 25972376 2015 Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.

PMID 14699623 2004 Hepatic fibrosis in Kabuki syndrome.

PMID 27568880 2016 Kabuki syndrome as a cause of non-immune fetal hydrops/ascites.

PMID 26049589 2015 Kabuki syndrome: expanding the phenotype to include microphthalmia and anophthalmia.

PMID 21658225 2011 Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients.

PMID 23320472 2013 MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

PMID 14608645 2003 Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

PMID 27778401 2017 Pilomatricoma Associated with Kabuki Syndrome.

PMID 22126750 2012 How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum.

PMID 16603732 2006 Identification of the MLL2 complex as a coactivator for estrogen receptor alpha.

PMID 21671394 2011 Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome.

PMID 3067577 1988 Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients.

PMID 28884889 2017 Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45.

PMID 26898171 2016 Recurrent giant cell fibroblastoma: Malignancy predisposition in Kabuki syndrome revisited.

PMID 9285441 1997 Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

PMID 28884922 2017 Congenital heart defects in molecularly proven Kabuki syndrome patients.

PMID 28295206 2017 Molecular, clinical and neuropsychological study in 31 patients with Kabuki syndrome and KMT2D mutations.

PMID 27991736 2017 KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection.

PMID 27573763 2016 A novel KMT2D mutation resulting in Kabuki syndrome: A case report.

PMID 28256057 2017 Interrupted/bipartite clavicle as a diagnostic clue in Kabuki syndrome.

rs1057516039 in KMT2D gene and Partially duplicated kidney PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516039 in KMT2D gene and Sensorineural Hearing Loss (disorder) PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516039 in KMT2D gene and Ventricular Septal Defects PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.