Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association; however, as cholestasis is not a prominant feature of Renal-hepatic-pancreatic dysplasia and there does not appear to be any cases with isolated cholestasis phenotype. Therefore, this gene has been given an Amber rating.
This gene is Green on Cystic kidney disease (v2.19), Unexplained paediatric onset end-stage renal disease (v1.11), Fetal anomalies (v1.92) and Renal ciliopathies (v1.30).
It is also Amber on Neonatal cholestasis (v1.4) with the following review:
"Comment on list classification: Cholestasis is not a major feature of Nephronophthisis 3. Biallelic variants in this gene have been reported in Caroli syndrome and renal-hepatic-pancreatic dysplasia; only a small number of cases have been reported and features vary. It would be less likely for variants in this gene to present with isolated cholestasis; NPHP3 is on a number of other panels including rare multisystem ciliopathies and cystic kidneys.
Anna de Burca (Genomics England Curator), 25 Jul 2018"
Created: 29 Oct 2020, 10:53 a.m. | Last Modified: 29 Oct 2020, 10:53 a.m.
Panel Version: 1.45
Gene: nphp3 has been classified as Amber List (Moderate Evidence).
Publications for gene: NPHP3 were set to 18371931; 20007846; 32341812
Phenotypes for gene: NPHP3 were changed from Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 to Renal-hepatic-pancreatic dysplasia 1, 208540
gene: NPHP3 was added gene: NPHP3 was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPHP3 were set to 18371931; 20007846; 32341812 Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Review for gene: NPHP3 was set to GREEN