Renal ciliopathiesGene: CC2D2A
Positives within our diagnostic patient cohort. Evidence in literature.
Created: 15 Mar 2016, 10:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases/families in OMIM and different variants reported for Joubert syndrome 9.
Created: 27 Aug 2016, 10:07 a.m.
Relevant phenotype and mode of inheritance was sourced from OMIM.
Created: 8 Jan 2016, 11:36 a.m.
gene: CC2D2A was added gene: CC2D2A was added to Renal ciliopathies. Sources: Other,Expert Review Green,Expert list,Eligibility statement prior genetic testing,Orphanet Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CC2D2A were set to Joubert syndrome 9; COACH syndrome; Joubert syndrome with oculorenal defect; Meckel syndrome 6; Meckel syndrome