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 |
|---|---|---|
| Brugada syndrome | disputed | |
| Epilepsy with Myoclonic-Atonic Seizures | susceptibility germline | |
| Familial Atrial Fibrillation | unknown germline |
mechanism: Atrial Ion-Channel or Coupling Variant
subtype: SCN1B-related
scoped to subtype: SCN1B-related
|
| Generalized Epilepsy with Febrile Seizures Plus | causative |
mechanism: Voltage-gated sodium channel dysfunction
subtype: GEFS+1 (SCN1B)
scoped to subtype: GEFS+1 (SCN1B)
|
| SCN1B-Related Developmental and Epileptic Encephalopathy | causative germline | |
| Dravet_syndrome |
untyped
Rare Pathogenic Mutations
|
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 |
|---|---|---|---|
| generalized epilepsy with febrile seizures plus MONDO:0018214 | AD | Definitive 2022-12-13 |
|
| genetic developmental and epileptic encephalopathy MONDO:0100062 | AR | Definitive 2022-01-04 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.