Genes in panel
STRs in panel
Prev Next

Severe microcephaly

Gene: CCND2

Amber List (moderate evidence)

CCND2 (cyclin D2)
EnsemblGeneIds (GRCh38): ENSG00000118971
EnsemblGeneIds (GRCh37): ENSG00000118971
OMIM: 123833, Gene2Phenotype
CCND2 is in 11 panels

2 reviews

Sarah Leigh (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Microcephaly, MONDO:0001149
Tags
Q1_22_rating
OMIM
123833
Clinvar variants
Variants in CCND2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Feb 2022, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: CCND2 were set to 34087052

8 Feb 2022, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CCND2 were changed from Microcephaly, MONDO# 0001149 to Microcephaly, MONDO:0001149

8 Feb 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ccnd2 has been classified as Amber List (Moderate Evidence).

8 Feb 2022, Gel status: 0

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q1_22_rating tag was added to gene: CCND2.

3 Feb 2022, Gel status: 0

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

Zornitza Stark (Australian Genomics)

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