Gene: CCND2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth. 28941273

2018
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study. 26520804

2015
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome. 24705253

2014
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR Regulation of cerebral cortex size and folding by expansion of basal progenitors. 23624932

2013
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis. 22228622

2012
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 22729223

2012
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA. 22729222

2012
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR Somatic activation of AKT3 causes hemispheric developmental brain malformations. 22500628

2012
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. 22729224

2012
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex. 19641124

2009
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells. 17486076

2007
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex. 16766701

2006
dbSNP: rs587777618
rs587777618
CCND2
G 0.700 GeneticVariation CLINVAR Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures. 15627943

2004