Genes associated with “Dravet syndrome”

Diagnostic yield calculator →
50 genes found5 PanelApp panels
Some sources returned errors (1)

openTargets: Error: OT search: 403

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

14 genes
1
46
score
ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 6B, non-Dravet

Frequency
-
P/LP Variants
463
OT Score
-
2
40
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
6
OT Score
-
3
36
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
8
OT Score
-
4
27
score
ClinGen: DefinitiveGTR ↑

{Epilepsy, childhood absence, susceptibility to, 4}

Frequency
-
P/LP Variants
-
OT Score
-
5
27
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
6
25
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
-
7
22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
8
21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
9
20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
20GABRB3
Def
20MED27
Def
20SCN1B
Def

Atrial fibrillation, familial, 13

20SCN3A
Def
20STX1B
Def

Consider

6 genes
14SNX27
11TTC21B
Def
9GALNT3
Def
9POGZ
Def
9SLC2A1
Def
8SCN9A
Ref

Erythermalgia, primary

Possible

30 genes — click to expand
7RFX5
Def
7UBE3A
Def
6CSRNP3
6SCN7A
6CACNA1A
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

5FCMSU

URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

5FGS2

FG SYNDROME 2; FGS2

5GEFSP2

GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2; GEFSP2

5IFAP1

IFAP SYNDROME 1, WITH OR WITHOUT BRESHECK SYNDROME; IFAP1

5MRXS7

Intellectual developmental disorder, X-linked syndromic 7

5MRXSA

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, ARMFIELD TYPE; MRXSA

5MRXSAB

Intellectual developmental disorder, X-linked syndromic, Abidi type

5MRXSCH

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH

5MRXSL

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE; MRXSL

5MRXSSD

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SIDERIUS TYPE; MRXSSD

5MRXSSH

INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SHASHI TYPE; MRXSSH

5PIERS

PIERSON SYNDROME; PIERS

5SGBS2

SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2; SGBS2

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.