Tubulointerstitial kidney diseaseGene: NPHP1
This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group.Gene Symbol submitted:NPHP1;Suggested initial gene rating: Green;Evidence for inclusion: none provided;Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 2 Feb 2019, 12:48 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Nephronopthisis 1, juvenile MIM 256100; Senior-Loken syndrome-1 MIM 266900; Joubert syndrome 4 MIM 609583
gene: NPHP1 was added gene: NPHP1 was added to Tubulointerstitial kidney disease. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPHP1 were set to Joubert syndrome 4 MIM 609583; Senior-Loken syndrome-1 MIM 266900; Nephronopthisis 1, juvenile MIM 256100