Genes associated with “Dravet syndrome”

67 genes foundOpen Targets: Dravet syndrome1282 ClinVar P/LP variants5 PanelApp panels
Some sources returned errors (2)

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

16 genes
1
SCN1A →

sodium voltage-gated channel alpha subunit 1

54
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
446
OT Score
0.87
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

39
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
6
OT Score
0.39
4
SCN8A →

sodium voltage-gated channel alpha subunit 8

39
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
25
OT Score
0.10
5
PCDH19 →

protocadherin 19

34
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.39
6
30
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
7
SCN1B →

sodium voltage-gated channel beta subunit 1

27
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.46
8
SNX27 →

sorting nexin 27

23
score
GTR ↑
Frequency
-
P/LP Variants
11
OT Score
0.55
9
GABRG2 →

gamma-aminobutyric acid type A receptor subunit gamma2

21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.41
20DYRK1A
Def

dual specificity tyrosine phosphorylation regulated kinase 1A

20GABRB2
Def
20GABRB3
Def
20HCN1
Def
20MED27
Str
20SCN3A
Def
20STX1B
Def

Consider

7 genes
16SLC2A1
Def

solute carrier family 2 member 1

15CACNA1A

calcium voltage-gated channel subunit alpha1 A

13POGZ
Def
11TTC21B
Def
9GALNT3
Def
9SCN9A
Ref

sodium voltage-gated channel alpha subunit 9

8ACVR1B

Possible

24 genes — click to expand
7ACVRL1
Def
7RFX5
Def
7UBE3A
Def
6CSRNP3
6SCN7A
6RUNX1
Def

RUNX family transcription factor 1

6FMR1
Def

fragile X messenger ribonucleoprotein 1

6FBN1
DefSF

fibrillin 1

6SELENBP1
Mod
5NEFL
Def

neurofilament light chain

4CBS
Def

cystathionine beta-synthase

4GATA1
Def

GATA binding protein 1

4CSTB
Def

cystatin B

4HAMP
Def

hepcidin antimicrobial peptide

4APP
Def

amyloid beta precursor protein

4ANKRD33
4ANO4
4ATP10A
4FIGNL2
4PSMB4
4SCN10A
Dis
4TUFT1
4XIRP2
3TGFB1
Lim

transforming growth factor beta 1

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Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.