Tubulointerstitial kidney diseaseGene: DCDC2
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:DCDC2;Suggested initial gene rating: Amber;Evidence for inclusion: 2 families with Nephronophthisis-related ciliopathy in Schueler paper. Mouse model ? Enough for green. 7 families with neonatal sclerosing cholangitis described by Grammatikopoulos (2016);Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 2 Feb 2019, 12:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Nephronopthisis 19 MIM 616217; Sclerosing cholangitis, neonatal MIM 617394; ?Deafness, autosomal recessive 66 MIM 610212
gene: DCDC2 was added gene: DCDC2 was added to Tubulointerstitial kidney disease. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: DCDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DCDC2 were set to 25557784 Phenotypes for gene: DCDC2 were set to Sclerosing cholangitis, neonatal MIM 617394; ?Deafness, autosomal recessive 66 MIM 610212; Nephronopthisis 19 MIM 616217