exostoses, multiple, type 2
Findings
No curated finding names exostoses, multiple, type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes.
Definition from the Mondo Disease Ontology (MONDO:0007586), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
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.
- Multiple exostosesHPOHP:0002762
- 17 of 17 reported patients
- ChondrosarcomaHPOHP:0006765
- 1 of 18 reported patients
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.
- EXT2HGNC:3513
- Definitive · Ambry Genetics · Autosomal dominant · 2017
- Definitive · ClinGen · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
4 names
Resolves to: exostoses, multiple, type 2
- Also called
- exostoses (Multiple) 2 Geneexostoses, multiple caused by mutation in EXT2EXT2 exostoses, multipleEXT2 Gene