See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.
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.