Previous symbols: STK9. Aliases: EIEE2, CFAP247.
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 |
|---|---|---|
| CDKL5 Deficiency Disorder | causative |
mechanism: CDKL5 Loss-of-Function Variant; CDKL5 Noncoding Exon Deletion; Loss of CDKL5 Kinase Activity in Neurons
dataset: geo:GSE294284; geo:GSE319077; geo:GSE325168
|
| Early-Infantile Developmental and Epileptic Encephalopathy | causative de novo | |
| Genetic Developmental and Epileptic Encephalopathy | causative |
mechanism: Genetic Lesion in an Ion Channel or Synaptic Gene
|
| Epilepsy |
untyped
Causative
|
|
| Infantile Spasms | no genetic record |
mechanism: Heterogeneous developmental brain etiologies
|
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 |
|---|---|---|---|
| CDKL5 disorder MONDO:0100039 | XL | Definitive 2018-07-02 |
CDKL5 Deficiency Disorder
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.