Neonatal cholestasis
Gene: DCDC2Comment on phenotypes: Added phenotypes suggested from external expert review.Created: 25 Jul 2018, 2:28 p.m.
Comment on list classification: More than 3 unrelated cases reported for homozygous variants in this gene in patients with neonatal sclerosis cholangitis, of which cholestasis is a feature (see publications). Green expert review and is on the VCGS panel and King's Liver Centre panel. Associated with Sclerosing cholangitis, neonatal in OMIM and is a Probable gene in Gene2Phenotype for RENAL-HEPATIC CILIOPATHY.Created: 25 Jul 2018, 12:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neonatal sclerosis cholangitis; PFIC type 5
This panel has been subjected to extensive internal and external review.
Phenotypes for gene: DCDC2 were set to Neonatal and Adult Cholestasis; Neonatal sclerosis cholangitis; PFIC type 5; Sclerosing cholangitis, neonatal, 617394
Gene: dcdc2 has been classified as Green List (High Evidence).
Mode of inheritance for gene: DCDC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: dcdc2 has been classified as Green List (High Evidence).
Publications for gene: DCDC2 were set to 27469900; 25557784; 27469900; 27319779; 27319779; 27469900
Victorian Clinical Genetics Services was added to DCDC2. Panel: Cholestasis
DCDC2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
DCDC2 was created by Ellen McDonagh