Aliases: SOTV.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Chondrosarcoma | risk factor germline |
mechanism: EXT1/EXT2 Heparan Sulfate Polymerization Failure
subtype: Secondary Peripheral
scoped to subtype: Secondary Peripheral
|
| Hereditary Multiple Osteochondromas | causative germlinesomatic loss of function |
mechanism: Germline Heterozygous Loss-of-Function Variant in EXT1 or EXT2; Somatic Second Hit in Growth-Plate Chondrocytes
subtype: EXT2
|
| Seizures-scoliosis-macrocephaly syndrome |
untyped
Causal biallelic variant
|
mechanism: Reduced EXT2 Protein Availability
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| exostoses, multiple, type 2 MONDO:0007586 | AD | Definitive 2018-12-21 |
Hereditary Multiple Osteochondromas
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.