Aliases: KIAA0645, DEP.5.
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 |
|---|---|---|
| Focal Cortical Dysplasia Type II | causative germline and somatic | |
| Genetic Developmental and Epileptic Encephalopathy | causative |
mechanism: Genetic Lesion Beyond the Channelopathies
subtype: DEE111
scoped to subtype: DEE111
|
| Hemimegalencephaly | causative germline and somatic |
mechanism: Loss of Function in an mTOR Pathway Repressor
|
| DEPDC5-Related Epilepsy |
untyped
Causal GATOR1 loss-of-function variant (haploinsufficiency)
|
|
| Dravet_syndrome |
untyped
Modifier Gene
|
|
| Epilepsy |
untyped
Causative
|
|
| Familial Focal Epilepsy With Variable Foci |
untyped
Causal GATOR1 loss-of-function variant
|
mechanism: DEPDC5-Associated Focal Cortical Dysplasia; GATOR1 Complex Loss and mTORC1 Disinhibition
|
| Familial Sleep-Related Hypermotor Epilepsy |
untyped
Causal GATOR1 loss-of-function variant
|
mechanism: DEPDC5-GATOR1 mTOR signaling dysregulation; Inherited ADSHE gene architecture
subtype: DEPDC5-related SHE
|
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 |
|---|---|---|---|
| focal epilepsy MONDO:0005384 | AD | Definitive 2018-08-07 |
DEPDC5-Related Epilepsy
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.