Gene: SATB2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 28139846

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR A de novo SATB2 mutation in monozygotic twins with cleft palate, dental anomalies, and developmental delay. 28211976

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR DEPDC5 mutations in familial and sporadic focal epilepsy. 28170089

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Clinical and molecular consequences of disease-associated de novo mutations in SATB2. 28151491

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. 27668656

2016
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation. 27409069

2016
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. 25885067

2015
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. 24363063

2014
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Further delineation of the SATB2 phenotype. 24301056

2014
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR The clinical significance of small copy number variants in neurodevelopmental disorders. 25106414

2014
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Genome sequencing identifies major causes of severe intellectual disability. 24896178

2014
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. 23925499

2013
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 19576302

2010
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. 19668335

2009
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects. 17377962

2007
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. 16960803

2006
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. 16751105

2006
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Identification of SATB2 as the cleft palate gene on 2q32-q33. 12915443

2003
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR A locus for isolated cleft palate, located on human chromosome 2q32. 10417281

1999
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. 2918541

1989