nephronophthisis 7
MONDO:0012680Mondo
Findings
No curated finding names nephronophthisis 7 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 GLIS2 gene.
Definition from the Mondo Disease Ontology (MONDO:0012680), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
3 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
- Renal tubular atrophyHPOHP:0000092
- 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.
- GLIS2HGNC:29450
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · G2P · Autosomal recessive · 2015
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · ClinGen · Autosomal recessive · 2024
- Limited · Ambry Genetics · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
4 names
Resolves to: nephronophthisis 7
- Also called
- GLIS2 nephronophthisis (disease)nephronophthisis (disease) caused by mutation in GLIS2nephronophthisis type 7NPHP7