Renal ciliopathies
Gene: C2CD3

C2CD3 (C2 calcium dependent domain containing 3)
EnsemblGeneIds (GRCh38): ENSG00000168014
EnsemblGeneIds (GRCh37): ENSG00000168014
OMIM: 615944, Gene2Phenotype
C2CD3 is in 13 panels

1 review

Aakash Joshi (St George's Hospital)

Green List (high evidence)

PMCID 11811416 identified 1 individual with biallelic variants in C2CD3 with isolated nephronophthisis.
C2CD3 is associated with Orofaciodigitial syndrome 14, which is a known multisystem ciliopathy (OMIM 615948), with renal features reported including renal cysts.
Sources: Literature
Created: 6 Oct 2026, 3:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
renal cysts; multisystem ciliopathy; renal ciliopathy

Publications

PMCID 11811416

Created: 6 Oct 2026, 3:50 p.m.

Panel version: 5.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Phenotypes

renal cysts
multisystem ciliopathy
renal ciliopathy

OMIM

615944

Clinvar variants

Variants in C2CD3

Penetrance

Complete

Publications

PMCID 11811416

Panels with this gene

History Filter Activity

6 Oct 2026, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Aakash Joshi (St George's Hospital)

gene: C2CD3 was added gene: C2CD3 was added to Renal ciliopathies. Sources: Literature Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C2CD3 were set to PMCID 11811416 Phenotypes for gene: C2CD3 were set to renal cysts; multisystem ciliopathy; renal ciliopathy Penetrance for gene: C2CD3 were set to Complete Review for gene: C2CD3 was set to GREEN

Renal ciliopathies Gene: C2CD3