Genes associated with “DEE8”

18 genes foundOpen Targets: developmental and epileptic encephalopathy, 8
How are genes scored? (0–100 composite)
-5–15
ClinGen
0–15
HPO Freq
0–15
Open Targets
0–12
Phen2Gene
0–10
ClinVar
0–8
Constraint
0–8
Dosage
0–8
OMIM CS
0–8
PanelApp
0–5
OMIM
0–5
G2P
0–4
Breadth
Tiers:Strong Candidates (≥20)Consider (≥8)Possible (≥3)
Evidence dots:
HPOClinVarPhen2GeneOpen TargetsPanelApp
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Strong Candidates

1 gene
1
ARHGEF9 →

Cdc42 guanine nucleotide exchange factor 9

35
score
ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 8

Frequency
-
P/LP Variants
70
OT Score
0.80

Consider

4 genes
13DEE8

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8; DEE8

13SCN1A
Def

sodium voltage-gated channel alpha subunit 1

11SCN8A
Def

sodium voltage-gated channel alpha subunit 8

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

Possible

9 genes — click to expand
8GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

7GRIA3
Def

glutamate ionotropic receptor AMPA type subunit 3

7KDM1A
Def

lysine demethylase 1A

7CACNA2D2
Mod

calcium voltage-gated channel auxiliary subunit alpha2delta 2

5HDAC4

histone deacetylase 4

4GRIK5

glutamate ionotropic receptor kainate type subunit 5

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

4GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyStatus epilepticus

Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.