Neonatal cholestasis
Gene: CC2D2AComment when marking as ready: Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene for each phenotype. Numerous variants reported in unrelated cases.Created: 14 Aug 2018, 8:20 a.m.
Comment on phenotypes: All three phenotypes display liver featuresCreated: 14 Aug 2018, 8:16 a.m.
Comment on phenotypes: Variants also reported in Joubert syndrome 9 612285, but this phenotype is not relevant to the infantile cholestasis panelCreated: 14 Aug 2018, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy
This panel has been subjected to extensive internal and external review.
Gene: cc2d2a has been classified as Green List (High Evidence).
Gene: cc2d2a has been classified as Red List (Low Evidence).
Phenotypes for gene: CC2D2A were set to COACH syndrome 216360; Meckel syndrome 6 612284; Joubert syndrome 9 612285
Publications for gene: CC2D2A were set to 19574260; 18950740; 27959436
Phenotypes for gene: CC2D2A were set to COACH syndrome 216360; Meckel syndrome 6 612284
Mode of inheritance for gene: CC2D2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to COACH syndrome 216360; Meckel syndrome 6 612284
Victorian Clinical Genetics Services was added to CC2D2A. Panel: Cholestasis
CC2D2A was added to Cholestasis panel. Sources: Emory Genetics Laboratory
CC2D2A was created by Ellen McDonagh