Limb disorders
Gene: CCND2Comment on mode of pathogenicity: PMID: 24705253 functional analysis suggests gain of functionCreated: 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.
Eleanor Williams: In OMIM and Gene2Phenotype CCN
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
Mode of inheritance for gene: CCND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: ccnd2 has been classified as Green List (High Evidence).
Publications for gene: CCND2 were set to
Phenotypes for gene: CCND2 were changed from Polydactyly to Polydactyly; Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Gene: ccnd2 has been classified as Green List (High Evidence).
CCND2 was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
CCND2 was created by Ellen McDonagh