present in Gene: WAC
present in Chromosome: 10
Position on Chromosome: 28583498
Alleles of this Variant: C/A
rs864321692 in
WAC gene and
Dysmorphic features
PMID 26325558 2015 Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
PMID 26757981 2016 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
PMID 21522184 2011 Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.
PMID 26264232 2015 WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
PMID 26325558 2015 Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
PMID 26264232 2015 WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.
PMID 26757981 2016 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
PMID 21522184 2011 Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
rs864321692 in
WAC gene and
Muscle hypotonia
PMID 26757981 2016 De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila.
PMID 21522184 2011 Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.
PMID 26325558 2015 Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
PMID 25356899 2014 De novo mutations in moderate or severe intellectual disability.
PMID 26264232 2015 WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
PMID 23033978 2012 Diagnostic exome sequencing in persons with severe intellectual disability.