Renal ciliopathiesGene: NPHP3
Comment when marking as ready: Many cases of nephronophthisis 3 as well as one set of siblings with Meckel and one set of siblings with renal-hepatic-pancreatic dysplasia/Meckel overlap. Recognised on G2P and on GOS ciliopathy panel
Created: 19 Jan 2017, 3:24 p.m.
gene: NPHP3 was added gene: NPHP3 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia; Senior-Loken syndrome; Nephronophthisis 3, 604387; Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis