Renal ciliopathiesGene: CEP83
mutations identified in 8 patients from 7 families . Recognised on G2P and offered on GOS ciliopathy panel
Created: 19 Jan 2017, 4:19 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Nephronophthisis 18 615862
gene: CEP83 was added gene: CEP83 was added to Renal ciliopathies. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: CEP83 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP83 were set to 24882706 Phenotypes for gene: CEP83 were set to Nephronophthisis 18 615862