Genes associated with “seizures”

Diagnostic yield calculator →
256 genes foundHPO: Hypocalcemic seizures
Some sources returned errors (3)

openTargets: Error: OT search: 403

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

20 genes
1
40
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
11
OT Score
-
2
37
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
5
OT Score
-
3
31
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
3
OT Score
-
4
29
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
-
5
25
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
6
OT Score
-
6
23
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
-
7
23
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
3
OT Score
-
8
21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
-
9
21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
-
21SCN3A
Def
20ARFGEF1
Def
20CACNA1C
Def
20GABRG2
Def
20GRIN1
Def
20HCN1
Def
20PRRT2
Def
20RTN4IP1
Def
20STX1B
Def
20TANC2
Def
20TRIO
Def

Consider

90 genes
19ANKRD11
Def
19ARID1B
Def
19ASXL3
Def
19CASK
Def
19CHD2
Def
19CHD7
Def
19KDM6A
Def
19KMT2D
Def
19MED13L
Def
19NSD1
Def
19RPS6KA3
Def
19WDR26
Def
18KMT2E
Def
18TCF4
Def
18CSNK2A1
Def
18CSNK2B
Def
17UBE3A
Def
16MBD5
Def
16TBCE
Mod#2

Hypocalcemic seizures

15MECP2
Def
14ASXL1
Def
14SLC6A8
Def
14SON
Def
14GNAO1
Def
14TSC2
SF
13ADNP
Def
13CHD8
Def
13DDX3X
Def
13FGFR3
Def
13FOXG1
Def
13GRIN2B
Def
13IRF2BPL
Def
13MEF2C
Def
13NFIX
Def
13POGZ
Def
13SLC2A1
Def
13SLC9A6
Def
12AGA
Def
12GFAP
Def
12NPC1
Def
11AHDC1
Def
11ATP7A
Def
11CTCF
Def
11DCX
Def
11DYRK1A
Def
11IKBKG
Def
11SATB2
Def
11ALPL
Def
11ASPM
Def
11COL4A1
Def
11DIAPH1
Def
11HECW2
Def
11PIGN
Def
11SCN8A
Def
11SETD1B
Def
11CYP27A1
Def
10FSD1L
10NARS1
Mod
9AP4B1
Def
9AP4M1
Def
9ATP1A3
Def
9DNMT3A
Def
9EHMT1
Def
9FA2H
Def
9HIBCH
Def
9HNRNPU
Def
9KCNJ10
Def
9KIF1A
Def
9MAGEL2
Def
9MTOR
Def
9PAH
Def
9PPP2R1A
Def
9RTTN
Def
9SPG7
Def
9UBE3B
Def
9HACE1
9ATRX
Def
9BCL11A
Def
9CIC
Def
9GLI3
Def
9NFIA
Def
9SMC1A
Def
8PPP1R12A
Str
8ATP6V0A2
Def
8TCIRG1
Def
8KRIT1
8NSDHL
Mod
8PI4KA
8PUM1
8VPS13A

Possible

145 genes — click to expand
7ACADM
Def
7ACSF3
Def
7ACTB
Def
7ACTG1
Def
7AFG2A
Def
7ARG1
Def
7ATP1A1
Def
7ATP7B
DefSF
7C1QB
Def
7CACNA1D
Def
7CBS
Def
7CCM2
Def
7CDT1
Def
7CLCN7
Def
7CORO1A
Def
7CPT2
Def
7DDC
Def
7ECHS1
Def
7FAN1
Def
7FASTKD2
Def
7FBP1
Def
7GALNS
Def
7GAN
Def
7GM2A
Def
7GNB1
Def
7H1-4
Def
7HEXA
Def
7ISCA2
Def
7KPTN
Def
7LMBRD1
Def
7MAP2K2
Def
7MMAA
Def
7MMACHC
Def
7MMUT
Def
7MN1
Def
7MTR
Def
7MTRR
Def
7NGLY1
Def
7OPN1LW
Def
7PCCA
Def
7PCCB
Def
7PEX26
Def
7PEX6
Def
7PGAP3
Def
7PIEZO1
Def
7PIGO
Def
7PMM2
Def
7PSAT1
Def
7PURA
Def
7RBCK1
Def
7SLC19A3
Def
7SLC25A13
Def
7SLC46A1
Def
7SMARCC2
Def
7SPTBN4
Def
7TRPM1
Def
7TRPM3
Def
7WARS2
Def
7CYP27B1
Def#3

Hypocalcemic seizures

6ABCA2
6ADPRS
6CDH15
Dis
6HECTD4
6PRMT7
6SHQ1
6SLC22A31
6TSC1
SF
6ZNF778
6ZNF778-DT
6GCM2
#9

Hypocalcemic seizures

6KLF13
Mod
6MED23
Mod
6PAFAH1B1
6PRICKLE1
Lim
6SOX2
6YWHAZ
Mod
5CLDN16
Def

Hypocalcemic seizures

5MAPK3
5NSMCE3
Lim
5OTUD7A
Lim
5TJP1
Lim
5VPS13D
Lim
5TNFRSF11A
#7

Hypocalcemic seizures

4ALDOA
4APBA2
4ARHGAP11B
4ARHGAP11B-DT
4ASPHD1
4C16ORF54
4CBFA2T3
4CDIPT
4CDIPTOSP
4CHRFAM7A
4DCLRE1B
4DOC2A
4EMC10
4ENTREP2
4FIMP1
4GDPD3
4GOLGA6L7
4GOLGA8H
4GOLGA8J
4GOLGA8M
4GOLGA8Q
4GOLGA8R
4GOLGA8T
4GRM7
4HIRIP3
4IL12RB2
4INO80E
4KCTD13
4KCTD13-DT
4KIF22
4LCIIAR
4MTMR10
4MVP-DT
4ODC1
4OPSIN-LCR
4PABPN1L
4PAGR1
4PAK1
4PI4K2A
4PPFIBP1
4PPP4C
4RPGRIP1
4SEMA3E
4SEZ6L2
4SOX2-OT
4SUPT16H
4TANGO2
4TAOK2
4TBC1D20
4TBC1D2B
4TBX6
4TCP1
4TLCD3B
4TMEM219
4TMEM63A
4TRAPPC2L
4TSEN2
4VPS53
4WASF1
4YPEL3
4YPEL3-DT
4ZG16

Related phenotype searches

Intellectual disabilityGlobal developmental delaySpeech/language delayNeurodegenerationDevelopmental regressionEpileptic encephalopathyStatus epilepticusInfantile spasms

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