Genes associated with “Dravet syndrome”

Diagnostic yield calculator →
217 genes foundHPO: Epileptic spasmOpen Targets: Dravet syndrome5 PanelApp panels
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

52 genes
1
SCN1A →

sodium voltage-gated channel alpha subunit 1

64
score
ClinGen: DefinitiveGTR ↑

Epileptic spasm

Frequency
56%
n=9
P/LP Variants
465
OT Score
0.88
2
SCN2A →

sodium voltage-gated channel alpha subunit 2

51
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.44
3
GABRA1 →

gamma-aminobutyric acid type A receptor subunit alpha1

46
score
ClinGen: DefinitiveGTR ↑

{Epilepsy, childhood absence, susceptibility to, 4}

Frequency
-
P/LP Variants
6
OT Score
0.46
4
SCN8A →

sodium voltage-gated channel alpha subunit 8

45
score
ClinGen: DefinitiveP2G #45GTR ↑

Epileptic spasm

Frequency
100%
n=1
P/LP Variants
5
OT Score
0.11
5
SCN1B →

sodium voltage-gated channel beta subunit 1

36
score
ClinGen: DefinitiveGTR ↑

Atrial fibrillation, familial, 13

Frequency
-
P/LP Variants
6
OT Score
0.47
6
GABRB3 →

gamma-aminobutyric acid type A receptor subunit beta3

33
score
ClinGen: DefinitiveGTR ↑

Infantile spasms

Frequency
75%
n=4
P/LP Variants
1
OT Score
0.34
7
NPRL3 →

NPR3 like, GATOR1 complex subunit

32
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.27
8
PCDH19 →

protocadherin 19

32
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.39
9
HCN1 →

hyperpolarization activated cyclic nucleotide gated potassium channel 1

31
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.34
30PRRT2
Def

Infantile spasms

30STXBP1
Def

Epileptic spasm

25TSC2
SF#1

Infantile spasms

25GABRB2
Def

gamma-aminobutyric acid type A receptor subunit beta2

24MED27
Def

mediator complex subunit 27

24PLCB1
Def#5

Epileptic spasm

24SLC35A2
Def

Epileptic spasm

23GABRG2
Def

Infantile spasms

23GRIN2B
Def#9

Infantile spasms

23SNX27

sorting nexin 27

22ARX
Def

Infantile spasms

22TRRAP
Def
22DNM1
Def

Epileptic spasm

22ALG13
Def

Infantile spasms

21PIGA
Def#18

Infantile spasms

20ARFGEF1
Def

Infantile spasms

20CNTNAP2
Def

Infantile spasms

20DEPDC5
Def

Infantile spasms

20DOCK7
Def

Infantile spasms

20EEF1A2
Def

Epileptic spasm

20GAD1
Def

Epileptic spasm

20GRIK2
Def

Epileptic spasm

20GRIN1
Def

Epileptic spasm

20KCNB1
Def

Infantile spasms

20KCNC2
Def

Epileptic spasm

20KCNH5
Def

Infantile spasms

20KCNT2
Def

Epileptic spasm

20NACC1
Def

Infantile spasms

20NEXMIF
Def

Infantile spasms

20PPP2R5C
Def

Infantile spasms

20PPP3CA
Def

Epileptic spasm

20SLC1A2
Def

Epileptic spasm

20SMC1A
Def

Infantile spasms

20SPTAN1
Def#6

Infantile spasms

20STX1B
Def
20SYNJ1
Def

Epileptic spasm

20TBL1XR1
Def

Epileptic spasm

20TRA2B
Def

Infantile spasms

20TRIM8
Def

Infantile spasms

20TRPM3
Def

Infantile spasms

20UBA5
Def

Infantile spasms

20UNC13A
Def

Infantile spasms

20WWOX
Def

Epileptic spasm

Consider

18 genes
15CACNA1A

calcium voltage-gated channel subunit alpha1 A

14TSC1
SF#2

Infantile spasms

13ST3GAL3
Mod#10

Epileptic spasm

13CUL3
Def

Infantile spasms

11SCN9A
Ref

sodium voltage-gated channel alpha subunit 9

11GABRD
Mod

gamma-aminobutyric acid type A receptor subunit delta

11GNAO1
Def#11

Infantile spasms

9CYP46A1

cytochrome P450 family 46 subfamily A member 1

9TTC21B
Def
9POGZ
Def
9SLC2A1
Def
9CDKL5
Def

Infantile spasms

9CACNA1B
Mod

Epileptic spasm

9SIGMAR1

sigma non-opioid intracellular receptor 1

9HTR2C

5-hydroxytryptamine receptor 2C

9HTR1D

5-hydroxytryptamine receptor 1D

8GABBR2
Mod

Infantile spasms

8GCSH
Def

Infantile spasms

Possible

81 genes — click to expand
8CNR1

cannabinoid receptor 1

8KLHL20
Mod

Infantile spasms

7ACTL6B

Infantile spasms

7ACTC1
DefSF
7ADGRV1
Def
7GALNT3
Def
7RFX5
Def
7UBE3A
Def
7GABRB1
Lim

gamma-aminobutyric acid type A receptor subunit beta1

7ARID2
Def

Infantile spasms

7ATP7A
Def

Epileptic spasm

7GABRA3

Epileptic spasm

6EPG5
Def

Epileptic spasm

6SCN7A
6SELENBP1
Mod
6NEUROD2

Infantile spasms

6PHACTR1

Epileptic spasm

6GNB1
Def

Infantile spasms

6PSMB4
5BRNRS

BRUNNER SYNDROME; BRNRS

5CDLS2

CORNELIA DE LANGE SYNDROME 2; CDLS2

5DEE1

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1

5DEE52

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 52; DEE52

5DEE6B

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B; DEE6B

5DEE9

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9; DEE9

5FGS5

FG syndrome 5

5FXTAS

FRAGILE X TREMOR/ATAXIA SYNDROME; FXTAS

5GEFSP2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2

5IFAP1

IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME; IFAP1

5MRXS14

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 14; MRXS14

5MRXSW

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WU TYPE; MRXSW

5PIERS

PIERSON SYNDROME; PIERS

5XLP2

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2; XLP2

5UGDH
Dis

Epileptic spasm

5GABRA2

gamma-aminobutyric acid type A receptor subunit alpha2

5GABRA6

gamma-aminobutyric acid type A receptor subunit alpha6

5GABRA4

gamma-aminobutyric acid type A receptor subunit alpha4

5GABRA5

gamma-aminobutyric acid type A receptor subunit alpha5

5GABRE

gamma-aminobutyric acid type A receptor subunit epsilon

5GABRG1

gamma-aminobutyric acid type A receptor subunit gamma1

5GABRG3

gamma-aminobutyric acid type A receptor subunit gamma3

5GABRP

gamma-aminobutyric acid type A receptor subunit pi

5GABRQ

gamma-aminobutyric acid type A receptor subunit theta

5SPOUT1

Infantile spasms

5DPAGT1
Def

Infantile spasms

5ERCC5
Def

Infantile spasms

5TIMM50
Def

Epileptic spasm

4DMXL2
Lim

Infantile spasms

4RPS24
Def

ribosomal protein S24

4HCFC1
Def

Infantile spasms

4D2HGDH
Def

Infantile spasms

4TUBB2A
Def

Infantile spasms

4ANO4
4ATP10A
4CSRNP3
4GJD2-DT
4HBA-LCR
4TUFT1
4XIRP2
4TUBG1
Def

Infantile spasms

4RUSC2
Mod

Infantile spasms

4FDXR
Def

Infantile spasms

4TUBB2B
Def

Infantile spasms

4ALG2
Str

Infantile spasms

4MFF
Mod

Epileptic spasm

4NAXD
Def

Infantile spasms

4NEDD4L
Def

Infantile spasms

4CDH2
Def

Infantile spasms

4TBCD
Def

Epileptic spasm

3ASPA
Def

Epileptic spasm

3SUCLA2
Def

Infantile spasms

3ATP1A3
Def

Epileptic spasm

3ALG14
Lim

Infantile spasms

3COX4I1
Lim

Epileptic spasm

3RPS17

ribosomal protein S17

3SPTBN1
Def

Infantile spasms

3CHD3
Def

Infantile spasms

3FBXL4
Def

Infantile spasms

3OTUD7A
Lim

Infantile spasms

3MACF1
Mod

Infantile spasms

3RPS27A

ribosomal protein S27a

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.