ClinGen Dosage Sensitivity Curation Page
CC2D2A
- Curation Status: Complete
- id: ISCA-28806
- Date last evaluated: 2013-07-17
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about CC2D2A at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/57545
- OMIM: https://omim.org/entry/612013
- Gene Reviews: https://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CC2D2A%5Bgenesymbol%5D
- ClinGen Haploinsufficiency Score: Gene associated with autosomal recessive phenotype
- ClinGen Triplosensitivity Score: 0
Select assembly:
(NC_000004.11)
(NC_000004.12)
- Haploinsufficiency score: Gene associated with autosomal recessive phenotype
- Strength of Evidence (disclaimer): Gene associated with autosomal recessive phenotype
Haploinsufficiency phenotype comments:
Mutations in CC2D2A have been associated with Meckel syndrome type 6, Joubert syndrome type 9, and COACH syndrome, all of which are inherited in an autosomal recessive manner.
- Triplosensitivity score: 0
- Strength of Evidence (disclaimer): No evidence for dosage pathogenicity