nephronophthisis 12
MONDO:0013442Mondo
Findings
No curated finding names nephronophthisis 12 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 TTC21B gene.
Definition from the Mondo Disease Ontology (MONDO:0013442), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
2 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- NephronophthisisHPOHP:0000090
- Stage 5 chronic kidney diseaseHPOHP:0003774
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.
- TTC21BHGNC:25660
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2024
Where it sits
- A kind of
Other names
4 names
Resolves to: nephronophthisis 12
- Also called
- nephronophthisis (disease) caused by mutation in TTC21Bnephronophthisis type 12NPHP12TTC21B nephronophthisis (disease)