Variant: rs587777621 

    present in Gene: CCND2
    present in Chromosome: 12
    Position on Chromosome: 4299980
    Alleles of this Variant: C/G;T

rs587777621 in CCND2 gene and Multiple congenital anomalies PMID 22500628 2012 Somatic activation of AKT3 causes hemispheric developmental brain malformations.

PMID 17486076 2007 Glycogen synthase kinase-3beta and p38 phosphorylate cyclin D2 on Thr280 to trigger its ubiquitin/proteasome-dependent degradation in hematopoietic cells.

PMID 22729223 2012 De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

PMID 22729222 2012 Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA.

PMID 28941273 2018 Hypoglycaemia represents a clinically significant manifestation of PIK3CA- and CCND2-associated segmental overgrowth.

PMID 22228622 2012 Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.

PMID 16766701 2006 The role of intermediate progenitor cells in the evolutionary expansion of the cerebral cortex.

PMID 19641124 2009 Cyclin D2 is critical for intermediate progenitor cell proliferation in the embryonic cortex.

PMID 26520804 2015 Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study.

PMID 22729224 2012 De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

PMID 24705253 2014 De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome.

PMID 23624932 2013 Regulation of cerebral cortex size and folding by expansion of basal progenitors.

PMID 15627943 2004 Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus: a rare brain malformation syndrome associated with mental retardation and seizures.