monogenic diabetes
MONDO:0015967Mondo
Findings
No curated finding names monogenic diabetes yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Diabetes mellitus that is caused by mutations in a single gene.
Definition from the Mondo Disease Ontology (MONDO:0015967), read 2026-09-29. CC BY 4.0.
Genes
15 genes
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.
- ABCC8HGNC:59
- Definitive · ClinGen · Semidominant · 2022
- Definitive · Natera · Semidominant · 2022
- GCKHGNC:4195
- Definitive · ClinGen · Semidominant · 2026
- HNF1AHGNC:11621
- Definitive · ClinGen · Autosomal dominant · 2018
- Strong · PanelApp Australia · Autosomal dominant · 2025
- HNF4AHGNC:5024
- Definitive · ClinGen · Autosomal dominant · 2019
- INSHGNC:6081
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · ClinGen · Autosomal dominant · 2020
- KCNJ11HGNC:6257
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · Natera · Autosomal dominant · 2023
- RFX6HGNC:21478
- Definitive · ClinGen · Autosomal dominant · 2024
- NKX2-2HGNC:7835
- Strong · PanelApp Australia · Autosomal recessive · 2025
- NEUROD1HGNC:7762
- Moderate · ClinGen · Autosomal recessive · 2021
- Moderate · ClinGen · Autosomal dominant · 2026
- PDX1HGNC:6107
- Moderate · ClinGen · Autosomal dominant · 2022
- HGNC:8618HGNC:8618
- Limited · PanelApp Australia · Autosomal dominant · 2025
- Refuted Evidence · ClinGen · Autosomal dominant · 2022
- SIRT1HGNC:14929
- Limited · ClinGen · Autosomal dominant · 2025
- APPL1HGNC:24035
- Refuted Evidence · ClinGen · Autosomal dominant · 2026
- BLKHGNC:1057
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
- KLF11HGNC:11811
- Refuted Evidence · ClinGen · Autosomal dominant · 2023
Where it sits
- Narrower terms (2)
Other names
1 name
Resolves to: monogenic diabetes
- Also called
- rare genetic diabetes mellitus