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| Renal ciliopathies v1.21 | DCDC2 | Eleanor Williams Classified gene: DCDC2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.21 | DCDC2 | Eleanor Williams Added comment: Comment on list classification: Upgrading from red to amber as there are now two cases where Nephronophthisis has been reported in patients with biallelic variants in this gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.21 | DCDC2 | Eleanor Williams Gene: dcdc2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.20 | DCDC2 | Eleanor Williams Publications for gene: DCDC2 were set to 25557784 - in vitro/in vivo evidence; 22558177 - expression data for the transcriptome of ciliated cells; 27319779 - biallelic missense variants reported in four affected children with Neonatal sclerosing cholangitis; 27469900 - 7 out of 24 patients with 7 with biallelic protein-truncating variants in DCDC2 (6 of 19 families) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.19 | DCDC2 |
Eleanor Williams commented on gene: DCDC2: Comments taken from the publications field before tidying up 25557784 - in vitro/in vivo evidence 22558177 - expression data for the transcriptome of ciliated cells 27319779 - biallelic missense variants reported in four affected children with Neonatal sclerosing cholangitis 27469900 - 7 out of 24 patients with 7 with biallelic protein-truncating variants in DCDC2 (6 of 19 families) |
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| Renal ciliopathies v1.19 | DCDC2 | Eleanor Williams changed review comment from: As Zornitza Stark has noted PMID: 31821705 - Slater et al 2020 provides a second case where nephronophthisis is noted.; to: As Zornitza Stark has noted PMID: 31821705 - Slater et al 2020 provides a second case where nephronophthisis is noted in a patient with a homozygous c.383C>G (p.S128*) nonsense pathogenic variant in exon 3 of the DCDC2 gene. Exome sequencing also showed variants of unknown clinical significance (VUS) in five other disease genes possibly related to the clinical phenotype. Parental samples were not available. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.19 | DCDC2 | Eleanor Williams reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Renal ciliopathies v1.15 | DCDC2 |
Zornitza Stark edited their review of gene: DCDC2: Added comment: Two families with renal ciliopathy phenotype reported. PMID: 25557784 - a single case (1 hom PTC) with nephronophthisis. 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; Changed rating: AMBER; Changed publications: 25557784, 31821705; Changed phenotypes: Nephronophthisis 19, MIM#616217 |
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| Renal ciliopathies v0.1 | DCDC2 |
Eleanor Williams gene: DCDC2 was added gene: DCDC2 was added to Renal ciliopathies. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Red,Orphanet Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCDC2 were set to 25557784 - in vitro/in vivo evidence; 22558177 - expression data for the transcriptome of ciliated cells; 27319779 - biallelic missense variants reported in four affected children with Neonatal sclerosing cholangitis; 27469900 - 7 out of 24 patients with 7 with biallelic protein-truncating variants in DCDC2 (6 of 19 families) Phenotypes for gene: DCDC2 were set to Neonatal sclerosing cholangitis; Nephronophthisis 19, 616217 |
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