Aliases: Kv10.1, eag, h-eag, eag1, hEAG, K(V)10.1.
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 |
|---|---|---|
| KCNH1 Associated Disorder | causative de novo |
mechanism: KCNH1 Gain-of-Function Variants
subtype: Attenuated non-syndromic; Isolated epilepsy; TBS; ZLS1
|
| Temple-Baraitser Syndrome |
untyped
Causative
|
mechanism: KCNH1 gain-of-function mutations
|
| Zimmermann-Laband Syndrome |
untyped
Causative
|
mechanism: Increased potassium-channel conductance; KCNH1-related ciliary signaling disruption
subtype: ZLS1
scoped to subtype: ZLS1
|
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 |
|---|---|---|---|
| KCNH1 associated disorder MONDO:0100485 | AD | Definitive 2022-04-05 |
KCNH1 Associated Disorder
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.