Severe microcephaly

Gene: CCND2

Green List (high evidence)

The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.

Created: 1 Feb 2023, 3 p.m. | Last Modified: 1 Feb 2023, 3:03 p.m.

Panel Version: 3.5

Green List (high evidence)

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

Green List (high evidence)

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.
Sources: Literature

Created: 3 Feb 2022, 9:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microcephaly, MONDO# 0001149

Publications

• 34087052