Severe microcephalyGene: CCND2
Not associated with a phenotype in OMIM, Gen2Phen. At least three terminating variants have been reported in three unrelated cases with severe microcephaly. These variants are located within the proximal region of the gene, in contrast to the previously reported megalencephaly-associated CCND2 variants, which are localized to
the terminal exon, resulting in gain of function (PMID:34087052;24705253).
Created: 8 Feb 2022, 11:04 a.m. | Last Modified: 8 Feb 2022, 11:04 a.m.
Panel Version: 2.279
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 8 Feb 2022, 10:48 a.m. | Last Modified: 8 Feb 2022, 10:48 a.m.
Panel Version: 2.278
Novel phenotype of microcephaly and mild developmental delay described in three unrelated families. Variants associated with this phenotype located in the proximal region of the gene.
Variants in distal region of gene associated with a reciprocal phenotype of macrocephaly/megalencephaly with severe cortical malformation.
Created: 3 Feb 2022, 9:42 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Microcephaly, MONDO# 0001149
Publications for gene: CCND2 were set to 34087052
Phenotypes for gene: CCND2 were changed from Microcephaly, MONDO# 0001149 to Microcephaly, MONDO:0001149
Gene: ccnd2 has been classified as Amber List (Moderate Evidence).
Tag Q1_22_rating tag was added to gene: CCND2.
gene: CCND2 was added gene: CCND2 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: CCND2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CCND2 were set to 34087052 Phenotypes for gene: CCND2 were set to Microcephaly, MONDO# 0001149 Review for gene: CCND2 was set to GREEN