Ciliopathies

Gene: DCDC2

Green List (high evidence)

DCDC2 is associated with autosomal recessive renal-hepatic ciliopathy (CLINGEN - definitive)

PMID: 27469900 - 2 unrelated cases with neonatal sclerosing cholangitis and kidney disease
PMID: 25557784 - 2 unrelated cases with NPHP (+functional assay)
PMID: 31821705 - 1 case with NPHP

Created: 25 Nov 2022, 1:19 a.m. | Last Modified: 25 Nov 2022, 1:19 a.m.

Panel Version: 1.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 19, MIM# 616217; Sclerosing cholangitis, neonatal, MIM# 617394

Publications

• PMID: 27469900, 25557784, 31821705

I don't know

PMID: 25557784 - a single case (1 hom PTC) with nephronophthisis, most reports are for cholangitis, though zebrafish model has renal cysts.

PMID: 31821705 - single report (1 hom PTC) with nephronophthisis with renal-hepatic ciliopathy with phenotypic characteristics that include hepatosplenomegaly, hepatic fibrosis with bile cholestasis, increased kidney echogenicity, and end-stage renal disease. MRI did not indicate cerebellar atrophy or MTS

Created: 20 May 2020, 6:25 a.m. | Last Modified: 20 May 2020, 6:25 a.m.

Panel Version: 0.165

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 19 616217

Publications

• PMID: 25557784
• 31821705

I don't know

Only a single case with nephronophthisis, most reports are for cholangitis, though zebrafish model has renal cysts.

Created: 3 Jan 2020, 10:17 a.m. | Last Modified: 3 Jan 2020, 10:17 a.m.

Panel Version: 0.41

Phenotypes
Nephronophthisis 19, MIM# 616217

Publications

• 25557784