Neurological segmental overgrowth

Gene: CCND2

Green List (high evidence)

CCND2 (cyclin D2)
EnsemblGeneIds (GRCh38): ENSG00000118971
EnsemblGeneIds (GRCh37): ENSG00000118971
OMIM: 123833, Gene2Phenotype
CCND2 is in 10 panels

2 reviews

Richard Scott (North Thames GMC/UCL)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: CCND2 rated as green based on expert review and confirmed DD gene.
Created: 15 Nov 2016, 11:49 a.m.
Comment on list classification: Updated rating from Red to Green because CCND2 in original list provided by Richard Scott.
Created: 7 Nov 2016, 2:49 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938
  • MPPH3
  • Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3
OMIM
123833
Clinvar variants
Variants in CCND2
Penetrance
None
Panels with this gene

History Filter Activity

31 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

gene: CCND2 was added gene: CCND2 was added to Neurological segmental overgrowth. Sources: Expert Review Green Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3