Genes associated with “infantile spasms”

Diagnostic yield calculator →
239 genes foundHPO: Infantile spasms2 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:
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Strong Candidates

8 genes
1
42
score
ACMG SFP2G #1OMIM CSGTR ↑

Infantile spasms

Frequency
57%
n=76
P/LP Variants
8
OT Score
-
2
28
score
ClinGen: DefinitiveP2G #43GTR ↑

Infantile spasms

Frequency
100%
n=1
P/LP Variants
21
OT Score
-
3
23
score
ClinGen: DefinitiveP2G #19GTR ↑
Frequency
-
P/LP Variants
47
OT Score
-
4
22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
135
OT Score
-
5
22
score
P2G #3GTR ↑
Frequency
-
P/LP Variants
10
OT Score
-
6
21
score
ClinGen: DefinitiveGTR ↑

Infantile spasms

Frequency
75%
n=4
P/LP Variants
6
OT Score
-
7
20
score
ACMG SFP2G #2OMIM CSGTR ↑

Infantile spasms

Frequency
14%
n=22
P/LP Variants
-
OT Score
-
8
20
score
ClinGen: DefinitiveGTR ↑

Infantile spasms

Frequency
17%
n=24
P/LP Variants
-
OT Score
-

Consider

59 genes
19TRA2B
Def

Infantile spasms

19OCA2
DefP:G
19SLC9A6
Def
19DEPDC5
Def

Infantile spasms

17UBE3A
Def
15NPRL3
Def
15TRPM3
Def

Infantile spasms

14GABRA5
14HERC2
13STAMBP

Infantile spasms

13ALDH7A1
Def
13IRF2BPL
Def
13MAGEL2
Def
13NEDIES

NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES

13TBC1D24
Def
13WWOX
Def
13ALG13
Def

Infantile spasms

12CDKL5
Def

Infantile spasms

11KCNQ2
Def
11NR4A2
Def
11GRIN2B
Def#7

Infantile spasms

10GCSH
Def

Infantile spasms

10UBA5
Def

Infantile spasms

10ATP10A
10ATP10A-DT
10GABRG3
10MKRN3
10NPAP1
10PWAR1
10PWAR4
10PWAR5
10PWAR6
10PWARSN
10PWRN1
10PWRN2
10PWRN3
10PWRN4
10SNRPN
10SNURF
10SNX27
10TRE-TTC2-2
9PLCG2
P:A
9SCN8A
Def
9CYFIP1
9GOLGA6L1
9GOLGA6L2
9GOLGA6L26
9GOLGA8S
9NIPA1
9NIPA2
9TUBGCP5
9DNM1
Def

Infantile spasms

9KMT2E
Def
9POGZ
Def
9TCF20
Def
9PIGA
Def#20

Infantile spasms

8NARS1
Mod
8GOLGA6L24
8GOLGA8F

Possible

131 genes — click to expand
8ATP6V0C

Infantile spasms

8GNAO1
Def#14

Infantile spasms

8PHACTR1
7TRIM8
Def

Infantile spasms

7NSMCE3
Lim
7TJP1
Lim
7SPTAN1
Def#6

Infantile spasms

7OTUD7A
Lim

Infantile spasms

7FAN1
Def
7GAN
Def
7RFX5
Def
7THOC6
Def
7TRPM1
Def
7TRRAP
Def
7CUL3
Def

Infantile spasms

7ARID2
Def

Infantile spasms

7SMC1A
Def

Infantile spasms

6APBA2
6CUX1
6ENTREP2
6GOLGA6L25
6GOLGA6L7
6GOLGA8G
6GOLGA8M
6HBA-LCR
6KLF9-DT
6LCIIAR
6CDK5
Mod
6CLDN9
Mod
6KLF13
Mod
6SELENBP1
Mod
6SRRM2
6NEUROD2

Infantile spasms

6NACC1
Def

Infantile spasms

5GNB1
Def

Infantile spasms

5ACOGS

AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS

5CDCBM16

CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 16; CDCBM16

5COFS1

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

5COQ10D8

COENZYME Q10 DEFICIENCY, PRIMARY, 8; COQ10D8

5DEE2

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 2; DEE2

5IDDEBF

INTELLECTUAL DEVELOPMENTAL DISORDER WITH EPILEPSY, BEHAVIORAL ABNORMALITIES, AND COARSE FACIES; IDDEBF

5NEDHSIL

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, STEREOTYPIC HAND MOVEMENTS, AND IMPAIRED LANGUAGE; NEDHSIL

5PCH3

PONTOCEREBELLAR HYPOPLASIA, TYPE 3; PCH3

5KCNB1
Def

Infantile spasms

5SPOUT1

Infantile spasms

5ARFGEF1
Def

Infantile spasms

5DPAGT1
Def

Infantile spasms

5ERCC5
Def

Infantile spasms

5UNC13A
Def

Infantile spasms

4DMXL2
Lim

Infantile spasms

4GABBR2
Mod

Infantile spasms

4HCFC1
Def

Infantile spasms

4D2HGDH
Def

Infantile spasms

4EEF1A2
Def

Infantile spasms

4TUBB2A
Def

Infantile spasms

4ACTL6B

Infantile spasms

4ATP6V1A
Lim

Infantile spasms

4AMDHD2
4ANO4
4ARHGAP11B
4ARHGAP11B-DT
4ATMIN
4BCO1
4BICDL2
4C16ORF46
4CCDC82
4CDYL2
4CEMP1
4CENPN
4CHRFAM7A
4CHRNA7
Ref
4CLDN6
4CMC2
4DEAF1
4DYNLRB2
4FLYWCH1
4FLYWCH2
4GOLGA8H
4GOLGA8J
4GOLGA8Q
4GOLGA8R
4GOLGA8T
4HCFC1R1
4IL32
4KCTD5
4KREMEN2
4MMP25
4MTMR10
4NOA3
4NPHP3-ACAD11
4PAQR4
4PDPK1
4PKD1L2
4PKMYT1
4PRSS21
4PRSS22
4PRSS27
4PRSS33
4PRSS41
4PSMB4
4REPS2
4TBC1D7-LOC100130357
4TNFRSF12A
4TUFT1
4UGP2
4YWHAE
4YWHAH
4ZG16B
4ZP2
4ZSCAN10
4DOCK7
Def

Infantile spasms

4TUBG1
Def

Infantile spasms

4RUSC2
Mod

Infantile spasms

4FDXR
Def

Infantile spasms

4TUBB2B
Def

Infantile spasms

4KCNH5
Def

Infantile spasms

4ALG2
Str

Infantile spasms

4KLHL20
Mod

Infantile spasms

4NAXD
Def

Infantile spasms

4NEDD4L
Def

Infantile spasms

4NEXMIF
Def

Infantile spasms

4CDH2
Def

Infantile spasms

4GABRG2
Def

Infantile spasms

4CNTNAP2
Def

Infantile spasms

3SUCLA2
Def

Infantile spasms

3PPP2R5C
Def

Infantile spasms

3ALG14
Lim

Infantile spasms

3SPTBN1
Def

Infantile spasms

3CHD3
Def

Infantile spasms

3FBXL4
Def

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.