Genes associated with “Dravet syndrome”

Diagnostic yield calculator →
80 genes foundOpen 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

17 genes
1
SCN1A →

sodium voltage-gated channel alpha subunit 1

60
score
ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 6B, non-Dravet

Frequency
-
P/LP Variants
462
OT Score
0.88
2
SCN2A →

sodium voltage-gated channel alpha subunit 2

48
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

39
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
8
OT Score
0.11
5
PCDH19 →

protocadherin 19

34
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.39
6
SCN1B →

sodium voltage-gated channel beta subunit 1

30
score
ClinGen: DefinitiveGTR ↑

Atrial fibrillation, familial, 13

Frequency
-
P/LP Variants
1
OT Score
0.47
7
GABRB3 →

gamma-aminobutyric acid type A receptor subunit beta3

29
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.34
8
27
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
9
GABRB2 →

gamma-aminobutyric acid type A receptor subunit beta2

25
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.33
24MED27
Def

mediator complex subunit 27

23SNX27

sorting nexin 27

22TRRAP
Def
22GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

20DYRK1A
Def

dual specificity tyrosine phosphorylation regulated kinase 1A

20HCN1
Def
20SCN3A
Def
20STX1B
Def

Consider

12 genes
16SLC2A1
Def

solute carrier family 2 member 1

15CACNA1A

calcium voltage-gated channel subunit alpha1 A

12SCN9A
Ref

sodium voltage-gated channel alpha subunit 9

11TTC21B
Def
11GABRD
Mod

gamma-aminobutyric acid type A receptor subunit delta

9CYP46A1

cytochrome P450 family 46 subfamily A member 1

9GALNT3
Def
9POGZ
Def
9SIGMAR1

sigma non-opioid intracellular receptor 1

9HTR2C

5-hydroxytryptamine receptor 2C

9HTR1D

5-hydroxytryptamine receptor 1D

8CNR1

cannabinoid receptor 1

Possible

45 genes — click to expand
7RFX5
Def
7UBE3A
Def
7GABRB1
Lim

gamma-aminobutyric acid type A receptor subunit beta1

7RUNX1
Def

RUNX family transcription factor 1

6CSRNP3
6SCN7A
6SELENBP1
Mod
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

5FGS3

FG syndrome 3

5FGS4

FG SYNDROME 4; FGS4

5GEFSP2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2

5IFAP1

IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME; IFAP1

5MRXSBL

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, BILLUART TYPE; MRXSBL

5MRXSCJ

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ

5MRXSH

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE; MRXSH

5MRXSMP

Martin-Probst syndrome

5OFD8

Orofaciodigital syndrome VIII

5PIERS

PIERSON SYNDROME; PIERS

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

5GABRA3

gamma-aminobutyric acid type A receptor subunit alpha3

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

5NEFL
Def

neurofilament light chain

5APP
Def

amyloid beta precursor protein

5CBS
Def

cystathionine beta-synthase

5CSTB
Def

cystatin B

4GATA1
Def

GATA binding protein 1

4HAMP
Def

hepcidin antimicrobial peptide

4GFAP
Def

glial fibrillary acidic protein

4ANO4
4ATP10A
4HBA-LCR
4PSMB4
4SCN10A
Dis
4TUFT1
4XIRP2

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.