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  2. Polymicrogyria and Schizencephaly
  3. CCND2
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Polymicrogyria and Schizencephaly

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

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Polymicrogyria is a prominent feature of the condition. At least 12 cases with de novo or parental mosaic missense with expected gain of function.
Sources: Expert list
Created: 30 May 2020, 12:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938

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

Created: 30 May 2020, 12:30 a.m.

Panel version: 0.80

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#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

30 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Bryony Thompson (Royal Melbourne Hospital)

gene: CCND2 was added gene: CCND2 was added to Polymicrogyria and Schizencephaly. Sources: Expert list Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCND2 were set to 24705253 Phenotypes for gene: CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 MIM#615938 Mode of pathogenicity for gene: CCND2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CCND2 was set to GREEN