Previous symbols: EPM1, STFB. Aliases: CST6, PME.
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 |
|---|---|---|
| Progressive Myoclonus Epilepsy |
untyped
Causative
|
scoped to subtype: EPM1
|
| Unverricht-Lundborg Disease |
untyped
Loss-of-Function (dodecamer repeat expansion or point/indel variants)
germline
|
mechanism: CSTB Dodecamer Repeat Expansion and Cystatin B Deficiency
diagnosis: CSTB Molecular Diagnosis
discussion: (unnamed)
|
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 |
|---|---|---|---|
| Unverricht-Lundborg syndrome MONDO:0009698 | AR | Definitive 2020-06-16 |
Unverricht-Lundborg Disease
untyped
|
| genetic developmental and epileptic encephalopathy MONDO:0100062 | AR | Moderate 2020-12-01 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.