Cholestasis
Gene: DCDC2

DCDC2 (doublecortin domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000146038
EnsemblGeneIds (GRCh37): ENSG00000146038
OMIM: 605755, Gene2Phenotype
DCDC2 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 8 families reported. Affected infants have jaundice, cholestasis, acholic stools, and progressive liver dysfunction resulting in fibrosis and cirrhosis; most require liver transplantation in the first few decades of life.
Created: 8 Dec 2024, 5:52 a.m. | Last Modified: 8 Dec 2024, 5:52 a.m.

Panel Version: 0.260

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sclerosing cholangitis, neonatal, MIM# 617394

Publications

Created: 8 Dec 2024, 5:51 a.m.
Last Modified: 8 Dec 2024, 5:51 a.m.
Panel version: 0.260

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Sclerosing cholangitis, neonatal, MIM# 617394

OMIM

605755

Clinvar variants

Variants in DCDC2

Penetrance

None

Publications

Panels with this gene