Renal and urinary tract disorders
Gene: NPHP1Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported for Nephronophthisis 1, juvenile 256100 and one variant for Joubert syndrome 4 609583 and Senior-Loken syndrome-1 266900Created: 5 Aug 2016, 8:07 a.m.
Comment on list classification: Major nephronophthisis gene.Created: 10 May 2016, 10:53 a.m.
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 12:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis 1
Publications
Miranda Durkie: No current test experience but
Phenotypes for gene: NPHP1 were changed from Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 4 to Ciliopathy genes associated with cystic kidney disease; Joubert syndrome 4 609583; Nephronophthisis 1, juvenile 256100; Senior-Loken syndrome-1 266900
Added phenotypes Joubert syndrome 4 for gene: NPHP1 Publications for gene NPHP1 were changed from to 266900
gene: NPHP1 was added gene: NPHP1 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to Ciliopathy genes associated with cystic kidney disease