Hydrocephalus
Gene: CCND2
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
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
Phenotypes for gene: CCND2 were changed from Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, OMIM:615938
Source NHS GMS was added to CCND2.
31.05.2017 - panel revised after internal curation and clinical review.
This gene has been classified as Green List (High Evidence).
Phenotypes for CCND2 were set to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 615938
Publications for CCND2 were set to 24705253
This gene has been classified as Green List (High Evidence).
CCND2 was created by oniblock
CCND2 was added to Hydrocephaluspanel. Sources: Radboud University Medical Center, Nijmegen