Neonatal cholestasis

Gene: DCDC2

Green List (high evidence)

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

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: Added phenotypes suggested from external expert review.
Created: 25 Jul 2018, 2:28 p.m.

Ellen McDonagh (Genomics England Curator)

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.

Jane Hartley (Birmingham Women and Children's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neonatal sclerosis cholangitis; PFIC type 5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
  • Neonatal sclerosis cholangitis
  • PFIC type 5
  • Sclerosing cholangitis, neonatal, 617394
OMIM
605755
Clinvar variants
Variants in DCDC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

25 Jul 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: DCDC2 were set to Neonatal and Adult Cholestasis; Neonatal sclerosis cholangitis; PFIC type 5; Sclerosing cholangitis, neonatal, 617394

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: dcdc2 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: DCDC2 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: dcdc2 has been classified as Green List (High Evidence).

25 Jul 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene: DCDC2 were set to 27469900; 25557784; 27469900; 27319779; 27319779; 27469900

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to DCDC2. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DCDC2 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

DCDC2 was created by Ellen McDonagh