Renal ciliopathiesGene: NPHP4
Comment when marking as ready: Mutations in at least 5 families with Nephronophthisis and 2 with Senior Loken. On GOS ciliopathy panel. Recognised on G2P as causing Nephronophthisis
Created: 19 Jan 2017, 3:26 p.m.
gene: NPHP4 was added gene: NPHP4 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: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP4 were set to Senior-Loken syndrome; Nephronophthisis; Senior-Loken syndrome 4, 606996; Nephronophthisis 4, 606966