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Tubulointerstitial kidney disease v0.3 DCDC2 Eleanor Williams reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: Schueler (2015) Am J Hum Genet 96, 81 PMID 25557784 ; Phenotypes: Nephronopthisis 19 MIM 616217, Sclerosing cholangitis, neonatal MIM 617394, ?Deafness, autosomal recessive 66 MIM 610212; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Tubulointerstitial kidney disease v0.2 DCDC2 Eleanor Williams 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