Genes associated with “status epilepticus”

Diagnostic yield calculator →
357 genes foundHPO: Status epilepticusOpen Targets: status epilepticus1 PanelApp panel
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

7 genes
1
SCN1A →

sodium voltage-gated channel alpha subunit 1

36
score
ClinGen: DefinitiveP2G #4GTR ↑

Status epilepticus without prominent motor symptoms

Frequency
44%
n=9
P/LP Variants
1
OT Score
0.38
2
GABRA1 →

gamma-aminobutyric acid type A receptor subunit alpha1

30
score
ClinGen: DefinitiveP2G #30GTR ↑

Status epilepticus

Frequency
80%
n=5
P/LP Variants
2
OT Score
0.57
3
28
score
ClinGen: DefinitiveP2G #1GTR ↑

Status epilepticus

Frequency
25%
n=8
P/LP Variants
125
OT Score
-
4
ALDH5A1 →

aldehyde dehydrogenase 5 family member A1

22
score
ClinGen: DefinitiveP2G #3GTR ↑

Status epilepticus

Frequency
-
P/LP Variants
-
OT Score
0.36
5
SCN2A →

sodium voltage-gated channel alpha subunit 2

22
score
ClinGen: DefinitiveP2G #5GTR ↑

Status epilepticus

Frequency
100%
n=1
P/LP Variants
-
OT Score
0.38
6
GABRB3 →

gamma-aminobutyric acid type A receptor subunit beta3

21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.57
7
GRIN2D →

glutamate ionotropic receptor NMDA type subunit 2D

20
score
ClinGen: DefinitiveP2G #23GTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.36

Consider

58 genes
19GABRG2
Def#7

gamma-aminobutyric acid type A receptor subunit gamma2

19SATB2
Def
17GABRD
Mod

gamma-aminobutyric acid type A receptor subunit delta

17CSNK2B
Def
17MDGA2

Developmental and epileptic encephalopathy 122

16PNPO
Def
16GABRA2

Status epilepticus

16SLC19A3
Def
16EPM2A
Def
16NHLRC1
Def
15SRRM2

serine/arginine repetitive matrix 2

15GABRA5

Status epilepticus

14GABRB2
Def

gamma-aminobutyric acid type A receptor subunit beta2

14SCN9A
Ref#6

sodium voltage-gated channel alpha subunit 9

14GABRE

gamma-aminobutyric acid type A receptor subunit epsilon

13GRIN2B
Def

Status epilepticus

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

Status epilepticus

12SCN8A
Def#15

sodium voltage-gated channel alpha subunit 8

12SCN3A
Def#14

sodium voltage-gated channel alpha subunit 3

12PCDH19
Def#12

Convulsive status epilepticus

12CNKSR2
Def
11KCNT1
Def

Status epilepticus

11SCN5A
DefSF

sodium voltage-gated channel alpha subunit 5

11SCN11A
Def

sodium voltage-gated channel alpha subunit 11

11SCN4A
Def

sodium voltage-gated channel alpha subunit 4

11CACNA1B
Mod

calcium voltage-gated channel subunit alpha1 B

10GRIA4
Mod

Status epilepticus

10NUS1
Def

Status epilepticus

10EPM2A-DT
10GRIA3
Def

glutamate ionotropic receptor AMPA type subunit 3

10SLC2A1
Def

Convulsive status epilepticus

10GABRB1
Lim

gamma-aminobutyric acid type A receptor subunit beta1

9ST3GAL5
Def#10

Status epilepticus

9ATP1A3
Def

Status epilepticus

9FASTKD2
Def
9HEPACAM
Def
9LYRM4
9BMPR2
Def
9CASK
Def
9MECP2
Def

Status epilepticus

9GABRA4

gamma-aminobutyric acid type A receptor subunit alpha4

9GABRA3

gamma-aminobutyric acid type A receptor subunit alpha3

9GABRA6

gamma-aminobutyric acid type A receptor subunit alpha6

9GABRG1

gamma-aminobutyric acid type A receptor subunit gamma1

9GABRG3

gamma-aminobutyric acid type A receptor subunit gamma3

9GABRP

gamma-aminobutyric acid type A receptor subunit pi

9GABRQ

gamma-aminobutyric acid type A receptor subunit theta

8HCN1
Def

Status epilepticus

8GRIN2A
Def

glutamate ionotropic receptor NMDA type subunit 2A

8POLG
Lim#11

Generalized non-convulsive status epilepticus without coma

8GRIN1
Def

glutamate ionotropic receptor NMDA type subunit 1

8CACNA1A
#16

Convulsive status epilepticus

8GALC
Def

galactosylceramidase

8UPB1
#9

Status epilepticus

8GTF3C3

Possible

258 genes — click to expand
8AP3B2
Def

Status epilepticus

8STXBP1
Def

Status epilepticus

8TWNK
Def

Epilepsia partialis continua

8SLC1A2
Def

Myoclonic status epilepticus

8RHOBTB2
Def

Status epilepticus

8SCN7A

sodium voltage-gated channel alpha subunit 7

8SCN10A
Dis

sodium voltage-gated channel alpha subunit 10

8COG8
Def

Status epilepticus

7CAD
Def

Status epilepticus

7DNM1
Def

Atypical absence status epilepticus

7WWOX
Def

Status epilepticus

7FGF12
Def

Status epilepticus

7FIG4
Def

Status epilepticus

7ALS2
Def
7ASS1
Def
7CASP8
Def
7COL3A1
DefSF
7COL5A2
Def
7CPS1
Def
7CTLA4
Def
7F13A1
Def
7GLS
Def
7GRIA2
Def

glutamate ionotropic receptor AMPA type subunit 2

7HECW2
Def
7HIBCH
Def
7ICOS
Def
7MARS2
Def
7MT-TW
Def
7NDUFB3
Def
7NDUFS1
Def
7SLC40A1
Def
7SPTBN1
Def
7STAT1
Def
7TMEM237
Def
7TRRAP
Def
7UNC80
Def
7ATP1A1
Mod

Status epilepticus

7CACNA1E
Def

Status epilepticus

7PDSS2
Mod

Focal motor 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

6LY6G5B
6CARS2
Mod

Status epilepticus

6SLC13A5

Status epilepticus

6AMACR
Def#17

Status epilepticus

6TP53
DefSF

tumor protein p53

6RNU4ATAC
Def

Status epilepticus

6CD28
Mod
6NDUFA9
Mod
6OTUD5
Mod
6RNU4-2
Str
6GRIA1
Mod

glutamate ionotropic receptor AMPA type subunit 1

6PIGA
Def

Status epilepticus

6PRODH
Def

Status epilepticus

6ITPA
Def

Status epilepticus

6IL6R
Lim

interleukin 6 receptor

6GNB1
Def

Status epilepticus

6NARS2
Def

Status epilepticus

6SV2A

synaptic vesicle glycoprotein 2A

6TBC1D24
Def

Status epilepticus

6DNM1L
Def

Status epilepticus

6NEXMIF
Def

Status epilepticus

5CCDC88A

Status epilepticus

5SON
Def

Status epilepticus

5GRIN2C

glutamate ionotropic receptor NMDA type subunit 2C

5GRIN3A

glutamate ionotropic receptor NMDA type subunit 3A

5GRIN3B

glutamate ionotropic receptor NMDA type subunit 3B

5TRAPPC2L

Status epilepticus

5ADAMTS9
Lim
5AHC2

ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

5AMYLD1

AMYLOIDOSIS, HEREDITARY SYSTEMIC 1; AMYLD1

5CASP10
Lim
5DEE14

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14; DEE14

5DEE85

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

5DEE9

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9

5DNAH7
Lim
5ENFL2

Epilepsy, nocturnal frontal lobe, type 2

5ENFL5

EPILEPSY, NOCTURNAL FRONTAL LOBE, 5; ENFL5

5EPEO4

EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT; EPEO4

5ERBB4
Lim
5HYRPRO1

HYPERPROLINEMIA, TYPE I; HYRPRO1

5MTDPS4A

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

5MTDPS7

MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE); MTDPS7

5MYL1
Lim
5NEDEPH

NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH

5PRICKLE2
Lim
5SSADHD

SUCCINIC SEMIALDEHYDE DEHYDROGENASE DEFICIENCY; SSADHD

5XLID98

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 98; XLID98

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

4RRM2B

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
4ABI2
4ACADL
Dis
4ADAM23
4ANKAR
4ANKRD44
4AOX1
4ASNSD1
4ATXN7
4BZW1
4C2CD6
4C2ORF66
4C2ORF69
4C2ORF80
4C2ORF88
4CADPS
4CALCRL
4CAVIN2
4CCDC150
4CCNYL1
4CDK15
4CEP15
4CFLAR
4CLK1
4CMKLR2
4COQ10B
4CREB1
4CRYGA
4CRYGB
4CRYGC
4CRYGD
4CYP20A1
4DIRC1
4EEF1B2
4FAM117B
4FAM171B
4FEZF2
4FLACC1
4FSIP2
4FTCDNL1
4FZD5
4FZD7
4GPANK1
4GSTT2
4GSTT2B
4GULP1
4HSPD1
4HSPE1
4HYCC2
4ICA1L
4IDH1
4INO80D
4INPP1
4ITGAV
4KANSL1L
4KBTBD8
4KCTD18
4KLF7
4LANCL1
4LRIG1
4LY6G5C
4MAGI1
4MAIP1
4MAP2
4MDH1B
4METTL21A
4MFSD6
4MOB4
4MPP4
4MYO1B
4NAB1
4NABP1
4NBEAL1
4NEMP2
4NIF3L1
4NOP58
4NRN1
4NRP2
4ORC2
4ORMDL1
4OSGEPL1
4P4HTM
4PARD3B
4PCGEM1
4PGAP1
4PIKFYVE
4PLCL1
4PLEKHM3
4PMS1
Ref
4PPIL3
4PSMD6
4PTH2R
4PTPRG
4RAPH1
4RFTN2
4RNU4-1
4SF3B1
4SGO2
4SIRT4
4SLC39A10
4SPATS2L
4STAT4
4STK17B
4STRADB
4SUCLG2
4SUMO1
4SYNPR
4TAFA1
4TAFA4
4THOC7
4TMEFF2
4TRAK2
4TYW5
4WDR12
4WDR75
4ZBTB11
4ZC3H15
4ZDBF2
4ZNF804A
4ZSWIM2
4KCTD7
Def

Myoclonic status epilepticus

4IL1R1

interleukin 1 receptor type 1

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.