Gene: HDAC8 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878853048
rs878853048
HDAC8
G 0.700 GeneticVariation CLINVAR Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction. 26671848

2016
dbSNP: rs878853048
rs878853048
HDAC8
G 0.700 GeneticVariation CLINVAR Cornelia de Lange syndrome. 25209348

2015
dbSNP: rs878853048
rs878853048
HDAC8
G 0.700 GeneticVariation CLINVAR Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance. 24403048

2014
dbSNP: rs878853048
rs878853048
HDAC8
G 0.700 GeneticVariation CLINVAR Autism traits in children and adolescents with Cornelia de Lange syndrome. 24718998

2014
dbSNP: rs878853048
rs878853048
HDAC8
G 0.700 GeneticVariation CLINVAR Mutation spectrum and genotype-phenotype correlation in Cornelia de Lange syndrome. 24038889

2013
dbSNP: rs878853048
rs878853048
HDAC8
G 0.700 GeneticVariation CLINVAR HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. 22885700

2012
dbSNP: rs878853048
rs878853048
HDAC8
G 0.700 GeneticVariation CLINVAR X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face. 22889856

2012
dbSNP: rs878853048
rs878853048
HDAC8
G 0.700 GeneticVariation CLINVAR Cohesin: its roles and mechanisms. 19886810

2009
dbSNP: rs878853048
rs878853048
HDAC8
G 0.700 GeneticVariation CLINVAR Natural history of aging in Cornelia de Lange syndrome. 17640042

2007
dbSNP: rs878853048
rs878853048
HDAC8
G 0.700 GeneticVariation CLINVAR NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome. 15146185

2004
dbSNP: rs878853048
rs878853048
HDAC8
G 0.700 GeneticVariation CLINVAR Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B. 15146186

2004