1. Genes and Genomic Entities
  2. DCDC2

DCDC2

doublecortin domain containing 2
OMIM: 605755, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels
Green DCDC2 in Neonatal cholestasis

Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.29

review 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
Green DCDC2 in Cholestasis


Level 2: Gastrohepatology
Version 3.19
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Sclerosing cholangitis, neonatal, 617394
  • PFIC type 5
  • Neonatal sclerosis cholangitis
  • Neonatal and Adult Cholestasis
Amber DCDC2 in Tubulointerstitial kidney disease


Level 2: Renal
Version 3.15
Latest signed off version: v3.5 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Sclerosing cholangitis, neonatal MIM 617394
    • ?Deafness, autosomal recessive 66 MIM 610212
    • Nephronopthisis 19 MIM 616217
    Amber DCDC2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • Sclerosing cholangitis, neonatal, OMIM:617394
    Green DCDC2 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • RENAL-HEPATIC CILIOPATHY 616217
    Red DCDC2 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Nephronophthisis 19, 616217
    • Neonatal sclerosing cholangitis
    Amber DCDC2 in Renal ciliopathies


    Level 2: Renal
    Version 4.7
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Orphanet
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Neonatal sclerosing cholangitis
    • Nephronophthisis 19, 616217
    Red DCDC2 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    		review Not set
    Sources
    • Expert Review Red
    • London North GLH