Malformations of cortical development

Gene: CCND2

Green List (high evidence)

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

Mode of pathogenicity
Other

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
Mode of Pathogenicity
Other - please provide details in the comments
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 4

Set mode of pathogenicity

Alice Gardham (Genomics England)

Mode of pathogenicity for CCND2 was changed to Other - please provide details in the comments

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 1

Added New Source

Alice Gardham (Genomics England)

CCND2 was added to Malformations of cortical developmentpanel. Sources: UKGTN,Literature

19 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

CCND2 was created by agardham