Neonatal cholestasis
Gene: NPHP3Comment 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.Created: 25 Jul 2018, 2:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephronophthisis
This panel has been subjected to extensive internal and external review.
Gene: nphp3 has been classified as Amber List (Moderate Evidence).
Publications for gene: NPHP3 were set to 21845392; 18371931; 20007846; 23686967
Publications for gene: NPHP3 were set to 21845392; 18371931; 20007846
Gene: nphp3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 208540
Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia
Mode of inheritance for gene: NPHP3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHP3 were set to 21845392; 18371931
Publications for gene: NPHP3 were set to 21845392
Victorian Clinical Genetics Services was added to NPHP3. Panel: Cholestasis
NPHP3 was added to Cholestasis panel. Sources: Emory Genetics Laboratory
NPHP3 was created by Ellen McDonagh