nephronophthisis 14
MONDO:0013916Mondo
Findings
No curated finding names nephronophthisis 14 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any nephronophthisis in which the cause of the disease is a mutation in the ZNF423 gene.
Definition from the Mondo Disease Ontology (MONDO:0013916), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ZNF423HGNC:16762
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Laboratory for Molecular Medicine · Unknown · 2020
Where it sits
- A kind of
Other names
4 names
Resolves to: nephronophthisis 14
- Also called
- nephronophthisis (disease) caused by mutation in ZNF423nephronophthisis type 14NPHP14ZNF423 nephronophthisis (disease)