Cholestasis

Gene: NPHP3

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

Green List (high evidence)

Very rare ciliopathy with prominent liver phenotype, including cholestasis.
Sources: Expert list

Created: 9 Aug 2020, 6:49 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Renal-hepatic-pancreatic dysplasia 1, MIM# 208540

Publications

• 18371931
• 20007846
• 32341812