Gene: DCDC2

Green List (high evidence)

DCDC2 (doublecortin domain containing 2)
EnsemblGeneIds (GRCh38): ENSG00000146038
EnsemblGeneIds (GRCh37): ENSG00000146038
OMIM: 605755, Gene2Phenotype
DCDC2 is in 9 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 31 Jan 2019, 10:36 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: DCDC2; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:42 p.m.

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

neonatal sclerosis cholangitis; PFIC type 5


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Other
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
  • Sclerosing cholangitis, neonatal, 617394
  • PFIC type 5
  • Neonatal sclerosis cholangitis
  • Neonatal and Adult Cholestasis
Clinvar variants
Variants in DCDC2
Panels with this gene

History Filter Activity

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Jan 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

Source Other was added to DCDC2. Mode of inheritance for gene DCDC2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Sclerosing cholangitis, neonatal, 617394; PFIC type 5; Neonatal sclerosis cholangitis; Neonatal and Adult Cholestasis for gene: DCDC2 Publications for gene DCDC2 were changed from to 25557784; 27319779; 27469900

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to DCDC2. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: DCDC2 was added gene: DCDC2 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: DCDC2 was set to