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Fetal anomalies

Gene: DCDC2

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 21 Feb 2025, 12:58 p.m. | Last Modified: 21 Feb 2025, 12:58 p.m.
Panel Version: 5.76
Created: 21 Feb 2025, 12:58 p.m.
Last Modified: 21 Feb 2025, 12:58 p.m.
Panel version: 5.76

Elizabeth Wall (Birmingham Women's and Children's Hospital)

I don't know

Biallelic variants associated with AR hepatic-renal ciliopathy. Definitive ClinGen association in 2021 (multiple case reports and series, consistent functional/IHC/cilia data). Postnatal presentations, predominant feature is neonatal onset sclerosing cholangitis. Mostly truncating variants. Missense variant reported in patient with milder phenotype (PMID 36938759). Renal phenotype can cause increased echogenicity postnatally. No prenatal presentations documented. Some case reports note normal pregnancy.
Created: 21 Feb 2025, 12:56 p.m. | Last Modified: 21 Feb 2025, 12:56 p.m.
Panel Version: 5.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Sclerosing cholangitis, neonatal, MIM#617394

Publications

Created: 21 Feb 2025, 12:56 p.m.
Last Modified: 21 Feb 2025, 12:56 p.m.
Panel version: 5.75

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for RENAL-HEPATIC CILIOPATHY
Created: 11 Dec 2018, 9:04 a.m.
Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Sclerosing cholangitis, neonatal, OMIM:617394
OMIM
605755
Clinvar variants
Variants in DCDC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: DCDC2 were changed from RENAL-HEPATIC CILIOPATHY; Sclerosing cholangitis, neonatal, OMIM:617394 to Sclerosing cholangitis, neonatal, OMIM:617394

20 Feb 2025, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to DCDC2. Added phenotypes Sclerosing cholangitis, neonatal, OMIM:617394 for gene: DCDC2 Publications for gene: DCDC2 were updated from to 37296768; 36816379; 36938759; 35570614; 34155636

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: DCDC2 was added gene: DCDC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCDC2 were set to RENAL-HEPATIC CILIOPATHY