Genes associated with “epilepsy”

Diagnostic yield calculator →
415 genes foundHPO: Sudden unexpected death in epilepsy1 PanelApp panel
Some sources returned errors (3)

openTargets: Error: OT search: 403

omim: Error: OMIM search: 429

omimClinSyn: Error: OMIM CS: 429

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

68 genes
1
48
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Sudden unexpected death in epilepsy

Frequency
11%
n=9
P/LP Variants
26
OT Score
-
2
46
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
11
OT Score
-
3
46
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
14
OT Score
-
4
43
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
10
OT Score
-
5
43
score
ClinGen: DefinitivePanel: Green ↑GTR ↑

Sudden unexpected death in epilepsy

Frequency
0%
n=7
P/LP Variants
9
OT Score
-
6
43
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
5
OT Score
-
7
40
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
8
OT Score
-
8
39
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
6
OT Score
-
9
38
score
ClinGen: DefinitivePanel: Green ↑GTR ↑
Frequency
-
P/LP Variants
7
OT Score
-
37DYRK1A
DefP:G
37KMT2E
DefP:G
37PCDH19
DefP:G
37SCN2A
DefP:G
35CSNK2B
DefP:G
35DEPDC5
DefP:G
35GRIN2A
DefP:G
34GLDC
DefP:G
33ARHGEF9
DefP:G
33CHD2
DefP:G
33CNOT1
Def
32SETD2
Def
31AMT
DefP:G
30CNTN2
DefP:G
30GABRA1
DefP:G
30PRRT2
DefP:G
29DLG4
Def
28WWOX
DefP:G

Sudden unexpected death in epilepsy

28BRAT1
DefP:G
27EEF1A2
DefP:G
27GABRB3
DefP:G
27LGI1
DefP:G
27NPRL2
DefP:G
27SCN3A
DefP:G
27SEMA6B
DefP:G
27SPTAN1
DefP:G
27SLC6A1
P:G
27HNRNPK
Def
27MEF2C
DefP:G
27SETBP1
DefP:G
27SLC35A2
DefP:G
26CACNA1C
DefP:G
26GNAI1
Def
25ALDH7A1
DefP:G
25ARID1B
DefP:G
25ATP1A2
DefP:G
25CNTNAP2
DefP:G
25EFTUD2
DefP:G
25HCN1
DefP:G
25HCN2
DefP:G
25HNRNPH2
DefP:G
25KCNA2
DefP:G
25KCNB1
DefP:G
25KCNC1
DefP:G
25KCNQ3
DefP:G
25KCNT1
DefP:G
25RORB
DefP:G
25SLC6A8
DefP:G
25STX1B
DefP:G
23ANKRD17
Def
23CDKL5
DefP:G
23EHMT1
DefP:G
23ZEB2
DefP:G
23ZMYM2
DefP:A
21TRIP12
Def
20AFG2A
Def
20GNAO1
DefP:G
20RFX3
Def
20RNU4-2
Str

Consider

96 genes
19FGFR3
DefP:G
19SHANK3
DefP:A
17FLNA
DefP:G
17KCNA1
DefP:G
17TET3
DefP:A
17WDR62
DefP:A
16RAB3GAP1
DefP:A
16USP7
DefP:A
16CACNA1B
ModP:G
16HACE1
P:G
15ATN1
DefP:G
15EPM2A
DefP:G
15MLC1
DefP:G
15MTOR
DefP:G
15ST3GAL5
DefP:G
15ANKRD11
DefP:G
15ARID2
Def
15CASK
DefP:G
15CLPB
LimP:G
15FOXP1
Def
15KANSL1
Def
15KMT2A
Def
15MECP2
DefP:G
15NR2F1
Def
15RAB3GAP2
DefP:A
15SCO2
DefP:A
15SLC2A1
DefP:G
15WDR26
Def
14CACNA1A
P:G
13BTD
DefSFP:G
13COL4A1
DefP:G
13DYNC1H1
DefP:G
13FOLR1
DefP:G
13KCNMA1
DefP:G
13NDE1
DefP:G
13NHLRC1
DefP:G
13SMARCA2
DefP:G
13TDP2
DefP:G
13UBE3A
DefP:G
13WARS2
DefP:G
12ATP6V0A1
P:G
12SETD1A
P:G
11ADGRV1
DefP:R
11AIMP2
DefP:A
11ARSA
Def
11GATAD2B
DefP:R
11TMEM106B
DefP:A
11TYMP
Def
11VLDLR
DefP:A
10TBC1D24
DefP:G

Sudden unexpected death in epilepsy

10CDK19
P:G
10DEAF1
P:G
10ELFN1
P:G
10GABRA5
P:G
10HBA-LCR
10HERC2
P:G
10MED23
Mod
10NARS1
Mod
10PRICKLE1
LimP:A
10SBF1
Mod
10SEPSECS
P:G
10SUCLG1
ModP:A
10TMEM167A
P:G
10TSEN54
P:G
9ACTB
Def
9BICRA
Def
9DARS2
Def
9DPF2
Def
9ECHS1
Def
9HAAO
Def
9IVD
Def
9TUBGCP6
Def
9ECM1
9ALG12
DefP:R
9ALX4
Def
9FBN1
DefSF
9PHF6
Def
9RTEL1
DefP:R
9SON
Def
8ADM2
8CIMAP1B
8CPT1B
No
8FSD1L
P:A
8KCNB2
P:A
8KLHDC7B
8LMF2
8MAPK8IP2
8MVP-DT
8NADSYN1
8NCAPH2
8PPP6R2
8RNU6ATAC
P:A
8STARD7
P:A
8SYCE3
8TBC1D20
P:A
8TSEN2
P:A

Possible

251 genes — click to expand
7SHQ1
P:G

Sudden unexpected death in epilepsy

7ABCC6
Def
7AFG3L2
Def
7AP5Z1
Def
7ATP7B
DefSF
7CARD11
Def
7CORO1A
Def
7COXFA4
Def
7DMRT1
Def
7DNAAF5
Def
7DOCK8
Def
7FAM20C
Def
7KCNV2
Def
7KYNU
Def
7MAGEL2
Def
7MYH11
DefSF
7OCA2
Def
7OPN1LW
Def
7PMS2
DefSF
7POLR3B
Def
7RAC1
Def
7CPLX1
P:G

Sudden unexpected death in epilepsy

7GUF1
LimP:A

Sudden unexpected death in epilepsy

7UBR7
P:G

Sudden unexpected death in epilepsy

6FIG4
DefP:R

Sudden unexpected death in epilepsy

6CHKB-CPT1B
6CHKB-DT
6DENND6B
6HDAC10
6KLHDC7B-DT
6MAPK11
6MAPK12
6MOV10L1
6PANX2
6PLXNB2
6SELENOO
6SOX4
6TRABD
6SLC32A1
P:G

Sudden unexpected death in epilepsy

6JKAMP
P:A

Sudden unexpected death in epilepsy

5ABCC1
Lim
5SLC1A1
Lim
4ADAP1
4AK3
4ALDOA
4AMZ1
4ANKRD61
4ARRDC1
4ASPHD1
4ATP10A
4ATP10A-DT
4BMERB1
4BRD1
4BRD10
4C16ORF54
4C1GALT1
4CCZ1
4CCZ1B
4CD274
4CDC37L1
4CDC37L1-DT
4CDIPT
4CDIPTOSP
4CEP20
4CHLSN
4CHST12
4COL28A1
4COX19
4CRELD2
4CYFIP1
4CYP2W1
4CYTH3
4DAGLB
4DMAC1
4DMRT2
4DMRT3
4DOC2A
4DPH7
4EAF1
4EIF2AK1
4EIF3B
4ENTPD8
4EPM2A-DT
4ERMP1
4EXD3
4FAM220A
4FBXL18
4FBXO36
4FIMP1
4FNDC11
4FOXK1
4FOXL3
4FOXL3-OT1
4FSCN1
4GABRG3
4GDPD3
4GET4
4GLCCI1
4GLCCI1-DT
4GLIS3
4GMEB2
4GNA12
4GPER1
4GPR146
4GPR82
4GRID2IP
4GRIFIN
4HACL1
4HELZ2
4HIRIP3
4ICA1
4ICE2
4IL17REL
4IL33
4INCR1
4INO80E
4INSL4
4INSL6
4INTS1
4INTS15
4INTS6
4JAK2
4KANK1
4KCTD13
4KCTD13-DT
4KDELR2
4KDM4C
4KIF22
4LINC-ADAIN
4LNCRI
4LURAP1L
4LY6G5B
4MAD1L1
4MAHAC
4MAPK3
4MARF1
4MGC4859
4MICALL2
4MICALL2-DT
4MIOS-DT
4MKRN3
4MLANA
4MMD2
4MPV17L
4MPV17L-BMERB1
4MRM2
4MRPL41
4NELFB
4NIPA1
4NIPA2
4NOMO3
4NOXA1
4NPAP1
4NPIPA5
4NPIPA6
4NPIPA7
4NRARP
4NTAN1
4NUDT1
4NXPH1
4OPSIN-LCR
4PAGR1
4PAPOLB
4PDCD1LG2
4PDGFA
4PDGFA-DT
4PDXDC1
4PHF14
4PIM3
4PLGRKT
4PLPP6
4PNPLA7
4PPDPF
4PPP4C
4PRKAR1B
4PSMG3
4PTK6
4PTPRD
4PTPRD-DT
4PUM3
4PWAR1
4PWAR4
4PWAR5
4PWAR6
4PWARSN
4PWRN1
4PWRN2
4PWRN3
4PWRN4
4RABL2B
4RADIL
4RANBP6
4RBAK-RBAKDN
4RBAKDN
4RCL1
4RFX3-DT
4RIC1
4RLN1
4RLN2
4RNF216
4RNF216-IT1
4RPA3
4RPL36A-HNRNPH2
4RRN3
4RSPH10B
4RSPH10B2
4SDK1
4SEZ6L
4SEZ6L2
4SIRT4
4SLC29A4
4SMIM10L3
4SNORA114
4SNORA80D
4SNRPN
4SNURF
4SNX8
4SPATA6L
4STMN3
4SUN1
4TAFA5
4TAOK2
4TBX6
4THSD7A
4TLCD3B
4TMEM184A
4TMEM219
4TNRC18
4TOR4A
4TPD52L3
4TRE-TTC2-2
4TTLL8
4TTYH3
4TUBGCP5
4TYRP1
4UHRF2
4UMAD1
4USP42
4VPS53
4WIPI2
4YPEL3
4YPEL3-DT
4ZBED4
4ZDHHC4
4ZFAND2A
4ZFAND2A-DT
4ZG16
4ZMYND19
4ZNF12
4ZNF316
4ZNF853

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.