Genes associated with “Dravet syndrome”

210 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:
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Strong Candidates

49 genes
1
SCN1A →

sodium voltage-gated channel alpha subunit 1

64
score
ClinGen: DefinitiveGTR ↑

Epileptic spasm

Frequency
56%
n=9
P/LP Variants
462
OT Score
0.87
2
SCN2A →

sodium voltage-gated channel alpha subunit 2

51
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
6
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
9
OT Score
0.10
5
PCDH19 →

protocadherin 19

34
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.39
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
0.33
7
SCN1B →

sodium voltage-gated channel beta subunit 1

30
score
ClinGen: DefinitiveGTR ↑

Atrial fibrillation, familial, 13

Frequency
-
P/LP Variants
1
OT Score
0.46
8
30
score
ClinGen: DefinitiveP2G #23GTR ↑

Epileptic spasm

Frequency
80%
n=5
P/LP Variants
-
OT Score
-
9
28
score
ClinGen: DefinitiveACMG SFP2G #1GTR ↑

Infantile spasms

Frequency
57%
n=76
P/LP Variants
-
OT Score
-
25GABRB2
Def

gamma-aminobutyric acid type A receptor subunit beta2

24MED27
Def

mediator complex subunit 27

24PLCB1
Def#5

Epileptic spasm

24GABRG2
Def

Infantile spasms

24SLC35A2
Def

Epileptic spasm

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

20CNTNAP2
Def

Infantile spasms

20DEPDC5
Def

Infantile spasms

20DOCK7
Def

Infantile spasms

20DYRK1A
Def

dual specificity tyrosine phosphorylation regulated kinase 1A

20EEF1A2
Def

Epileptic spasm

20GAD1
Def

Epileptic spasm

20GRIK2
Def

Epileptic spasm

20GRIN1
Def

Epileptic spasm

20HCN1
Def
20KCNB1
Def

Infantile spasms

20KCNC2
Def

Epileptic spasm

20KCNH5
Def

Infantile spasms

20NACC1
Def

Infantile spasms

20NEXMIF
Def

Infantile spasms

20PPP3CA
Def

Epileptic spasm

20PRRT2
Def

Infantile spasms

20SCN3A
Def
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

20WWOX
Def

Epileptic spasm

Consider

17 genes
17TSC1
DefSF#2

Infantile spasms

17CDKL5
Def

Infantile spasms

16SLC2A1
Def

solute carrier family 2 member 1

15GABRD
Mod

gamma-aminobutyric acid type A receptor subunit delta

13ST3GAL3
Mod#10

Epileptic spasm

13CUL3
Def

Infantile spasms

12SCN9A
Ref

sodium voltage-gated channel alpha subunit 9

11TTC21B
Def
11GNAO1
Def#11

Infantile spasms

9GALNT3
Def
9POGZ
Def
9CACNA1B
Mod

Epileptic spasm

8GABBR2
Mod

Infantile spasms

8GCSH
Def

Infantile spasms

8HTR2C

5-hydroxytryptamine receptor 2C

8SIGMAR1

sigma non-opioid intracellular receptor 1

8HTR1D

5-hydroxytryptamine receptor 1D

Possible

81 genes — click to expand
8KLHL20
Mod

Infantile spasms

7ACTL6B

Infantile spasms

7RFX5
Def
7UBE3A
Def
7GABRB1
Lim

gamma-aminobutyric acid type A receptor subunit beta1

7ATP7A
Def

Epileptic spasm

7GABRA3

Epileptic spasm

7GLUL
Mod

Infantile spasms

6CSRNP3
6SCN7A
6RUNX1
Def

RUNX family transcription factor 1

6FMR1
Def

fragile X messenger ribonucleoprotein 1

6CACNA1A
6SELENBP1
Mod
6NEUROD2

Infantile spasms

6PHACTR1

Epileptic spasm

6CNR1

cannabinoid receptor 1

6GNB1
Def

Infantile spasms

6PSMB4
5CHIME

COLOBOMA, CONGENITAL HEART DISEASE, ICHTHYOSIFORM DERMATOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND EAR ANOMALIES SYNDROME; CHIME

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

5GEFSP2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2

5IFAP1

IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME; IFAP1

5MCOPS2

MICROPHTHALMIA, SYNDROMIC 2; MCOPS2

5MEHMO

MEHMO SYNDROME; MEHMO

5MRXS13

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; MRXS13

5MRXSRC

RAYNAUD-CLAES SYNDROME; MRXSRC

5PIERS

PIERSON SYNDROME; PIERS

5SGBS2

SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

5UGDH
Dis

Epileptic spasm

5GABRA2

gamma-aminobutyric acid type A receptor subunit alpha2

5GABRA6

gamma-aminobutyric acid type A receptor subunit alpha6

5GABRA5

gamma-aminobutyric acid type A receptor subunit alpha5

5GABRA4

gamma-aminobutyric acid type A receptor subunit alpha4

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

5NEFL
Def

neurofilament light chain

5CBS
Def

cystathionine beta-synthase

4DMXL2
Lim

Infantile spasms

4GATA1
Def

GATA binding protein 1

4CSTB
Def

cystatin B

4HCFC1
Def

Infantile spasms

4HAMP
Def

hepcidin antimicrobial peptide

4APP
Def

amyloid beta precursor protein

4D2HGDH
Def

Infantile spasms

4TUBB2A
Def

Infantile spasms

4ANO4
4ATP10A
4SCN10A
Dis
4TUFT1
4XIRP2
4TUBG1
Def

Infantile spasms

4RUSC2
Mod

Infantile spasms

4FDXR
Def

Infantile spasms

4TUBB2B
Def

Infantile spasms

4TMEM63B

Epileptic spasm

4ALG2
Str

Infantile spasms

4MFF
Mod

Epileptic spasm

4NAXD
Def

Infantile spasms

4NEDD4L
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

3SPTBN1
Def

Infantile spasms

3CHD3
Def

Infantile spasms

3FBXL4
Def

Infantile spasms

3OTUD7A
Lim

Infantile spasms

3MACF1
Mod

Infantile spasms

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.