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 |
|---|---|---|
| Childhood Absence Epilepsy | susceptibility germline |
mechanism: Aberrant Thalamic GABAergic Inhibition
subtype: GABRG2 CAE
|
| Epilepsy with Myoclonic-Atonic Seizures | susceptibility germline | |
| GABRG2-Related Epilepsy | causative | |
| Generalized Epilepsy with Febrile Seizures Plus | causative |
mechanism: Impaired GABAergic inhibition
subtype: GABRG2
scoped to subtype: GABRG2
|
| Juvenile Absence Epilepsy | susceptibility germline | |
| Pediatric Acute-onset Neuropsychiatric Syndrome | susceptibility germline | |
| Dravet_syndrome |
untyped
Rare Pathogenic Mutations
|
|
| Epilepsy |
untyped
Pathogenic Variants
|
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.
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.