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Limb disorders

Gene: CCND2

Green List (high evidence)

CCND2 (cyclin D2)
EnsemblGeneIds (GRCh38): ENSG00000118971
EnsemblGeneIds (GRCh37): ENSG00000118971
OMIM: 123833, Gene2Phenotype
CCND2 is in 9 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on mode of pathogenicity: PMID: 24705253 functional analysis suggests gain of function
Created: 9 Dec 2018, 11:36 p.m.
Comment when marking as ready: Rated green based on sufficient evidence.
Created: 17 Oct 2018, 4:35 p.m.
Comment on list classification: More than 3 unrelated cases/families with plausible disease causing variants in this gene.
Created: 17 Oct 2018, 3:31 p.m.
In OMIM and Gene2Phenotype CCND2 is associated with Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3.

Mirzaa et al. (2014)(PMID: 24705253) identified heterozygous mutations in the CCND2 gene in 12 probands with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome-3. 7 different mutations were identified. All probands except 1 showed polydactyly of either the hands or feet or both. The mutations occurred de novo in all patients from whom parental DNA was available, except for 1 parent who was mosaic for the mutation. All of the mutations either altered conserved residues, or truncated the protein before a phosphorylation site necessary for subsequent protein degradation. Transfection of the CCND2 mutations into HEK293 cells resulted in abnormal accumulation of unphosphorylated, degradation-resistant cyclin D2.
Created: 17 Oct 2018, 3:26 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polydactyly
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
OMIM
123833
Clinvar variants
Variants in CCND2
Penetrance
None
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: In OMIM and Gene2Phenotype CCN

9 Dec 2018, Gel status: 3

Set mode of pathogenicity

Eleanor Williams (Genomics England Curator)

Mode of pathogenicity for gene: CCND2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

17 Oct 2018, Gel status: 3

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: CCND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ccnd2 has been classified as Green List (High Evidence).

17 Oct 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: CCND2 were set to

17 Oct 2018, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: CCND2 were changed from Polydactyly to Polydactyly; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938

17 Oct 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: ccnd2 has been classified as Green List (High Evidence).

13 Aug 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

CCND2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services

13 Aug 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

CCND2 was created by Ellen McDonagh