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Mendeliome

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

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 25557784 - a single case (1 hom PTC) with nephronophthisis, most reports are for cholangitis, though zebrafish model has renal cysts.

PMID: 31821705 - single report (1 hom PTC) with nephronophthisis with renal-hepatic ciliopathy with phenotypic characteristics that include hepatosplenomegaly, hepatic fibrosis with bile cholestasis, increased kidney echogenicity, and end-stage renal disease. MRI did not indicate cerebellar atrophy or MTS
Created: 20 May 2020, 6:25 a.m. | Last Modified: 20 May 2020, 6:25 a.m.
Panel Version: 0.165

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 19 616217

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 families reported with cholangitis, and two with nephronophthisis, though zebrafish model has renal cysts.
Created: 3 Jan 2020, 10:17 a.m. | Last Modified: 18 Jul 2021, 8:22 a.m.
Panel Version: 0.8367

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 19, MIM# 616217; Sclerosing cholangitis, neonatal, MIM# 617394

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 19, MIM# 616217
  • Sclerosing cholangitis, neonatal, MIM# 617394
OMIM
605755
Clinvar variants
Variants in DCDC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Jul 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

18 Jul 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DCDC2 were changed from to Nephronophthisis 19, MIM# 616217; Sclerosing cholangitis, neonatal, MIM# 617394

18 Jul 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DCDC2 were set to

18 Jul 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DCDC2 was added gene: DCDC2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DCDC2 was set to Unknown