Genes associated with “DEE13

54 genes foundOpen Targets: developmental and epileptic encephalopathy, 13
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
hover for details

Strong Candidates

1 gene
1
SCN8A

sodium voltage-gated channel alpha subunit 8

38
score
ClinGen: DefinitiveGTR ↑

?Myoclonus, familial, 2

Frequency
-
P/LP Variants
173
OT Score
0.84

Consider

6 genes

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 13; DEE13

13ALDH7A1
Def

aldehyde dehydrogenase 7 family member A1

13SCN1A
Def

sodium voltage-gated channel alpha subunit 1

10KCNQ2
Def

potassium voltage-gated channel subfamily Q member 2

calcium voltage-gated channel subunit alpha1 A

Possible

26 genes — click to expand
8GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

8AP3B2
Def

adaptor related protein complex 3 subunit beta 2

8LGI1
Def

leucine rich glioma inactivated 1

8AKT3
Def

AKT serine/threonine kinase 3

7ACVRL1
Def
6ARX
Def

aristaless related homeobox

CUGBP Elav-like family member 4

potassium voltage-gated channel subfamily H member 3

4GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

4CHRNA4
Def

cholinergic receptor nicotinic alpha 4 subunit

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

4KCNC2
Def

potassium voltage-gated channel subfamily C member 2

4KDM1A
Def

lysine demethylase 1A

4DNM1
Def

dynamin 1

4KCNT1
Def

potassium sodium-activated channel subfamily T member 1

4RYR2
DefSF

ryanodine receptor 2

calcium voltage-gated channel subunit alpha1 G

4SCN1B
Def

sodium voltage-gated channel beta subunit 1

4UBE3A
Def

ubiquitin protein ligase E3A

4SZT2
Def

SZT2 subunit of KICSTOR complex

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4KCNA2
Def

potassium voltage-gated channel subfamily A member 2

4HTT
Def

huntingtin

4KCNJ11
Def

potassium inwardly rectifying channel subfamily J member 11

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