Aliases: GABAARdelta.
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 |
|---|---|---|
| Generalized Epilepsy with Febrile Seizures Plus | risk factor |
mechanism: Impaired GABAergic inhibition
subtype: GABRD
scoped to subtype: GABRD
|
| Juvenile Myoclonic Epilepsy | susceptibility germline | |
| Epilepsy |
untyped
Pathogenic Variants
|
|
| Postpartum Depression | no genetic record |
animal model: Gabrd heterozygous and null mouse
|
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 |
|---|---|---|---|
| epilepsy MONDO:0005027 | AD | Limited 2023-07-18 |
Epilepsy
untyped
|
| complex neurodevelopmental disorder MONDO:0100038 | AD | Moderate 2023-07-18 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.