present in Gene: KANSL1
present in Chromosome: 17
Position on Chromosome: 46170875
Alleles of this Variant: G/-
rs1555574888 in
KANSL1 gene and
Dysmorphic features
PMID 26424144 2015 Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
PMID 26306646 2016 The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
PMID 22544363 2012 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
PMID 22544367 2012 Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
PMID 26306646 2016 The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
PMID 26424144 2015 Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
PMID 22544363 2012 Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
PMID 26293599 2015 KANSL1 gene disruption associated with the full clinical spectrum of 17q21.31 microdeletion syndrome.