Renal Ciliopathies and Nephronophthisis
Gene: DCDC2EnsemblGeneIds (GRCh38): ENSG00000146038
EnsemblGeneIds (GRCh37): ENSG00000146038
OMIM: 605755, Gene2Phenotype
DCDC2 is in 8 panels
3 reviews
Chirag Patel (Genetic Health Queensland)
DCDC2 is associated with autosomal recessive renal-hepatic ciliopathy (CLINGEN - definitive)
PMID: 27469900 - 2 unrelated cases with neonatal sclerosing cholangitis and kidney disease
PMID: 25557784 - 2 unrelated cases with NPHP (+functional assay)
PMID: 31821705 - 1 case with NPHPCreated: 25 Nov 2022, 1:18 a.m. | Last Modified: 25 Nov 2022, 1:18 a.m.
Panel Version: 1.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 19, MIM# 616217; Sclerosing cholangitis, neonatal, MIM# 617394
Publications
Elena Savva (Victorian Clinical Genetics Services)
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.
Two reported unrelated patients with a supporting animal model phenotypeCreated: 20 May 2020, 6:26 a.m. | Last Modified: 20 May 2020, 6:26 a.m.
Panel Version: 0.100
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 19 616217
Publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Only one convincing case reported with a renal phenotype, functional data (zebrafish model has renal cysts).Created: 3 Jan 2020, 3:50 a.m. | Last Modified: 3 Jan 2020, 3:50 a.m.
Panel Version: 0.34
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 19, MIM# 616217
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- KidGen_CilioNephronop v38.1.0
- Phenotypes
-
- Nephronophthisis 19, MIM# 616217
- OMIM
- 605755
- Clinvar variants
- Variants in DCDC2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DCDC2 were set to 25557784; 31821705; 27469900
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DCDC2 were set to 25557784; 31821705
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: dcdc2 has been classified as Green List (High Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DCDC2 were set to 25557784
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: DCDC2 were changed from to Nephronophthisis 19, MIM# 616217
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: DCDC2 were set to
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dcdc2 has been classified as Amber List (Moderate Evidence).
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 Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: DCDC2 was set to Unknown