Genes associated with “status epilepticus”

Diagnostic yield calculator →
206 genes foundHPO: Status epilepticus1 PanelApp panel
Some sources returned errors (1)

openTargets: Error: OT search: 403

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

3 genes
1
29
score
ClinGen: DefinitiveP2G #4GTR ↑

Status epilepticus without prominent motor symptoms

Frequency
44%
n=9
P/LP Variants
1
OT Score
-
2
28
score
ClinGen: DefinitiveP2G #1GTR ↑

Status epilepticus

Frequency
25%
n=8
P/LP Variants
121
OT Score
-
3
21
score
GTR ↑

Status epilepticus

Frequency
63%
n=8
P/LP Variants
5
OT Score
-

Consider

30 genes
19SATB2
Def
17CSNK2B
Def
16PNPO
Def
16SLC19A3
Def
16EPM2A
Def
16NHLRC1
Def
15ALDH5A1
Def#3

Status epilepticus

15SCN2A
Def#5

Status epilepticus

13FARS2
Def
13MLC1
Def
13WARS2
Def
12CHD2
Def

Status epilepticus without prominent motor symptoms

12PCDH19
Def#12

Convulsive status epilepticus

12CNKSR2
Def
11KCNT1
Def

Status epilepticus

10GRIN2D
Def
10NUS1
Def

Status epilepticus

10EPM2A-DT
10SLC2A1
Def

Convulsive status epilepticus

9ST3GAL5
Def#10

Status epilepticus

9ATP1A3
Def

Status epilepticus

9HEPACAM
Def
9LYRM4
9CASK
Def
9GABRA1
Def

Status epilepticus

9MECP2
Def

Status epilepticus

8HCN1
Def

Status epilepticus

8POLG
Lim#11

Status epilepticus

8CACNA1A
#16

Convulsive status epilepticus

8UPB1
#9

Status epilepticus

Possible

135 genes — click to expand
8AP3B2
Def

Status epilepticus

8STXBP1
Def

Status epilepticus

8TWNK
Def

Status epilepticus

8ATP1A1
Def

Status epilepticus

8SLC1A2
Def

Myoclonic status epilepticus

8RHOBTB2
Def

Status epilepticus

8COG8
Def

Status epilepticus

7CAD
Def

Status epilepticus

7DNM1
Def

Atypical absence status epilepticus

7DHDDS
Def

Status epilepticus

7WWOX
Def

Status epilepticus

7FGF12
Def

Status epilepticus

7FIG4
Def

Status epilepticus

7ASS1
Def
7F13A1
Def
7FASTKD2
Def
7GABRB3
Def
7MT-TW
Def
7SPTBN1
Def
7TRRAP
Def
7ZBTB11
Def
7CACNA1E
Def

Status epilepticus

7PDSS2
Mod

Focal motor status epilepticus

7GRIN2B
Def

Status epilepticus

7SYNJ1
Def

Convulsive status epilepticus

7PPP3CA
Def

Status epilepticus

6CTSD
Def#13

Status epilepticus

6LGI1
Def

Status epilepticus

6PIGS
Def

Status epilepticus

6QARS1
Def

Status epilepticus

6GTF3C3
6LY6G5B
6CARS2
Mod

Status epilepticus

6SLC13A5

Status epilepticus

6AMACR
Def#17

Status epilepticus

6RNU4ATAC
Def

Status epilepticus

6NDUFA9
Mod
6OTUD5
Mod
6RNU4-2
Str
6SRRM2
6PIGA
Def

Status epilepticus

6PRODH
Def

Status epilepticus

6ITPA
Def

Status epilepticus

6GNB1
Def

Status epilepticus

6NARS2
Def

Status epilepticus

6GRIA4
Mod

Status epilepticus

6TBC1D24
Def

Status epilepticus

6DNM1L
Def

Status epilepticus

6NEXMIF
Def

Status epilepticus

5CCDC88A

Status epilepticus

5SON
Def

Status epilepticus

5TRAPPC2L

Status epilepticus

5ADAMTS9
Lim
5AMYLD1

AMYLOIDOSIS, HEREDITARY SYSTEMIC 1; AMYLD1

5CLN10

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

5DEE11

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 11; DEE11

5DEE4

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4; DEE4

5DEE85

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85

5ETL2

Epilepsy, familial temporal lobe, 2

5HYRPRO1

HYPERPROLINEMIA, TYPE I; HYRPRO1

5MTDPS4A

MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE); MTDPS4A

5NEDEPH

NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH

5PRICKLE2
Lim
5SPDRS

SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME; SPDRS

5UPB1D

BETA-UREIDOPROPIONASE DEFICIENCY; UPB1D

5XLID98

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98; XLID98

5PPP2R5C
Def

Status epilepticus

5AGO1
Def

Status epilepticus

5BCL10
Def

Status epilepticus

5CNTNAP2
Def

Status epilepticus

5COQ2
Def

Status epilepticus

5COX10
Def

Status epilepticus

5FDXR
Def

Status epilepticus

5HNRNPU
Def

Status epilepticus without prominent motor symptoms

5KCNC2
Def

Tonic status epilepticus

5MICU1
Def

Status epilepticus

5NFU1
Def

Status epilepticus

5NOTCH3
Def

Status epilepticus

5OPA1
Def

Myoclonic status epilepticus

5PSAP
Def

Status epilepticus

5UNC13A
Def

Status epilepticus

4ARV1

Status epilepticus

4ATP1A2
Def

Refractory status epilepticus

4NTRK2

Status epilepticus

4ECE1

Status epilepticus

4DEPDC5
Def

Convulsive status epilepticus

4BRAT1
Def

Focal motor status epilepticus

4VARS1
Def

Status epilepticus

4KCNH5
Def

Status epilepticus

4PET100
Def

Status epilepticus

4SATB1
Def

Status epilepticus

4ABCA2
4ABHD16A
4ATXN7
4CADPS
4CEP15
4FEZF2
4GPANK1
4GSTT2
4GSTT2B
4KBTBD8
4LRIG1
4LY6G5C
4MAGI1
4NRN1
4P4HTM
4PSMD6
4PTPRG
4RNU4-1
4SIRT4
4SUCLG2
4SYNPR
4TAFA1
4TAFA4
4THOC7
4KCTD7
Def

Myoclonic status epilepticus

4PACS2
Def

Status epilepticus

4PEX5
Def

Convulsive status epilepticus

4TBK1
Def

Status epilepticus

4SLC12A5
Lim

Status epilepticus

4LMNB2

Status epilepticus

4ATP5PO
Str

Refractory status epilepticus

4KLHL20
Mod

Non-convulsive status epilepticus without coma

4NDUFA6
Mod

Status epilepticus

4UQCC2
Mod

Status epilepticus

4GOSR2
Def

Myoclonic status epilepticus

4YWHAG

Status epilepticus

4KCNMA1
Def

Status epilepticus

4DEAF1

Status epilepticus

3CLN6
Def

Status epilepticus without prominent motor symptoms

3CRELD1
Lim

Status epilepticus

3IQSEC1
Lim

Status epilepticus

3NDUFA8
Mod

Status epilepticus

3SLC25A12
Mod

Status epilepticus

3TBCK
Def

Status epilepticus

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionSeizuresEpileptic encephalopathyInfantile spasms

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