Microcephaly
Gene: CCND2EnsemblGeneIds (GRCh38): ENSG00000118971
EnsemblGeneIds (GRCh37): ENSG00000118971
OMIM: 123833, Gene2Phenotype
CCND2 is in 10 panels
1 review
Alison Yeung (Victorian Clinical Genetics Services)
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: LiteratureCreated: 7 Jan 2022, 3:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder, CCND2-related MONDO# 0700092; Microcephaly, MONDO# 0001149
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Neurodevelopmental disorder, CCND2-related MONDO# 0700092
- Microcephaly, MONDO# 0001149
- OMIM
- 123833
- Clinvar variants
- Variants in CCND2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: ccnd2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Alison Yeung (Victorian Clinical Genetics Services)Gene: ccnd2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Alison Yeung (Victorian Clinical Genetics Services)gene: CCND2 was added gene: CCND2 was added to 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 Neurodevelopmental disorder, CCND2-related MONDO# 0700092; Microcephaly, MONDO# 0001149 Review for gene: CCND2 was set to GREEN