Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 |