Hydrocephalus
Gene: CCND2EnsemblGeneIds (GRCh38): ENSG00000118971
EnsemblGeneIds (GRCh37): ENSG00000118971
OMIM: 123833, Gene2Phenotype
CCND2 is in 10 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 2:49 p.m. | Last Modified: 29 Jul 2019, 2:49 p.m.
Panel Version: 1.34
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient evidence for causation.Created: 4 May 2017, 9:06 a.m.
In 12 probands with MPPH, Mirzaa et al. (2014) identified 7 different heterozygous mutations in the CCND2 gene. All of the mutations either altered conserved residues surrounding thr280, a GSK3B (605004) phosphorylation target necessary for subsequent protein degradation, or truncated the mutation before this phosphorylation site. Therefore alongside truncations, certain missense mutations are relevant. Vast majority are de novo, however low level mosaicism in a parent is reported.Created: 4 May 2017, 9:05 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938
- OMIM
- 123833
- Clinvar variants
- Variants in CCND2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: CCND2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CCND2.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)31.05.2017 - panel revised after internal curation and clinical review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Set publications
Helen Brittain (Genomics England Curator)Publications for CCND2 were set to 24705253
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Olivia Niblock (Genomics England Curator)CCND2 was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)CCND2 was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen