Variant: rs587783685 

    present in Gene: KMT2D
    present in Chromosome: 12
    Position on Chromosome: 49032113
    Alleles of this Variant: G/A

rs587783685 in KMT2D gene and Dysmorphic features PMID 9285441 1997 Kabuki make-up (Niikawa-Kuroki) syndrome: cognitive abilities and autistic features.

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

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

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

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

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

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

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

PMID 14699623 2004 Hepatic fibrosis in Kabuki syndrome.

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

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

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

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

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

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

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

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

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

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

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

PMID 22304445 2013 Multiple pilomatricomas in Kabuki syndrome.

rs587783685 in KMT2D gene and Kabuki make-up syndrome PMID 26300940 2015 The strong association of left-side heart anomalies with Kabuki syndrome.

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

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

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

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.

rs587783685 in KMT2D gene and Multiple congenital anomalies PMID 14608645 2003 Coloboma and other ophthalmologic anomalies in Kabuki syndrome: distinction from charge association.

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

PMID 14699623 2004 Hepatic fibrosis in Kabuki syndrome.

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

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 22304445 2013 Multiple pilomatricomas in Kabuki syndrome.

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

PMID 27778401 2017 Pilomatricoma Associated with Kabuki Syndrome.

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

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

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

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

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

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

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.