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  2. Neurological segmental overgrowth
  3. CCND2
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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

Created: 15 Nov 2016, 10:37 a.m.

Panel version: Imported from Segmental overgrowth disorders panel version 0.10

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.
Created: 7 Nov 2016, 2:49 p.m.

Panel version: Imported from Segmental overgrowth disorders panel version 0.6

Details

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

History Filter Activity

26 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CCND2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938; MPPH3; Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938

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