Malformations of cortical development
Gene: CCND2

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment on mode of pathogenicity: activating mutations
Created: 19 Dec 2016, 11:35 a.m.

Recognised on G2P. Gain of function mutations
Created: 19 Dec 2016, 11:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938

Publications

24705253, 27854409

Mode of pathogenicity
Other

Created: 19 Dec 2016, 11:35 a.m.

Panel version: 1.77

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Literature
UKGTN

Phenotypes

Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938

OMIM

123833

Clinvar variants

Variants in CCND2

Penetrance

Complete

Publications

24705253, 27854409

Mode of Pathogenicity

Other - please provide details in the comments

Panels with this gene