×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
GeneticVariation
CLINVAR
Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.
28941273
2018
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
GeneticVariation
CLINVAR
Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.
26520804
2015
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
GeneticVariation
CLINVAR
De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.
24705253
2014
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
GeneticVariation
CLINVAR
Regulation of cerebral cortex size and folding by expansion of basal progenitors.
23624932
2013
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
GeneticVariation
CLINVAR
Somatic activation of AKT3 causes hemispheric developmental brain malformations.
22500628
2012
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
GeneticVariation
CLINVAR
Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.
22729222
2012
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
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
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
GeneticVariation
CLINVAR
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
22729224
2012
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
GeneticVariation
CLINVAR
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.
22729223
2012
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
GeneticVariation
CLINVAR
Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex.
19641124
2009
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
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
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
GeneticVariation
CLINVAR
The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex.
16766701
2006
×
Entrez Id:
894
Gene Symbol:
CCND2
CCND2
Overgrowth
0.100
GeneticVariation
CLINVAR
Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.
15627943
2004