Genes associated with “neonatal seizures

195 genes foundHPO: Neonatal deathOpen Targets: neonatal-onset encephalopathy with rigidity and seizures3 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

10 genes
43
score
ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 7

Frequency
-
P/LP Variants
29
OT Score
-
2
BRAT1

BRCA1 associated ATM activator 1

30
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
-
OT Score
0.78
29
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
-
28
score
ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 11

Frequency
-
P/LP Variants
365
OT Score
-
27
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
3
OT Score
-
23
score
ClinGen: DefinitivePanel: GreenGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
21
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
-
20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
-
20
score
ClinGen: DefinitiveGTR ↑

Neonatal death

Frequency
100%
n=2
P/LP Variants
-
OT Score
-
20GAD1
Def

Neonatal death

Consider

37 genes
19KCNQ3
Def

Seizures, benign neonatal, 2

16EEF1A2
Def

SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

SEIZURES, BENIGN FAMILIAL NEONATAL, 2; BFNS2

SEIZURES, BENIGN FAMILIAL NEONATAL, 3; BFNS3

NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT

NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS, SEIZURES, AND BRAIN ABNORMALITIES; NEDHSB

NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES; NEDSGA

13PEX1
DefP:G

PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL

DIABETES MELLITUS, PERMANENT NEONATAL, 2; PNDM2

DIABETES MELLITUS, PERMANENT NEONATAL, 3; PNDM3

RIGIDITY AND MULTIFOCAL SEIZURE SYNDROME, LETHAL NEONATAL; RMFSL

11GRIN2B
Def
11PEX10
DefP:G

Neonatal death

11PEX14
DefP:G

Neonatal death

9TARS2
DefP:A

Neonatal death

9DIAPH1
Def
9GALNT3
Def
9RTEL1
Def
9TTC21B
Def
9CREBBP
Def
9FLNA
Def
9IKBKG
Def
9L1CAM
Def
9MECP2
Def
9MEF2C
Def
9NBEA
Def
9PKHD1
DefP:G

Neonatal death

8DSP
DefSF

Neonatal death

8GLUL
Mod

Neonatal death

8BCS1L
DefP:A

Neonatal death

8NPHP3
DefP:A

Neonatal death

Possible

120 genes — click to expand

Neonatal death

7ABCA3
Def

Neonatal death

7FAT4
Def
7G6PD
Def
7GLDC
Def
7HCFC1
Def
7KCNQ1
DefSF
7KIF5A
Def
7KMT5B
Def
7MOCS1
Def
7NAA10
Def
7OPN1LW
Def
7OPN1MW
Def
7PROS1
Def
7RPL10
Def
7SUOX
Def
7ZNF292
Def
7FANCB
Def

Neonatal death

7WT1
DefSF

Neonatal death

6RARB
Def

Neonatal death

6GDI1
Mod
6KDM4B
Str
6RAD51C
Def

Neonatal death

6RBM10
Def

Neonatal death

6TMEM70
Def

Neonatal death

6LMOD3
Def

Neonatal death

6NFU1
Def

Neonatal death

5ACTA1
Def

Neonatal death

5EFEMP2
Def

Neonatal death

5INTU
Def

Neonatal death

5LMOD2
Def

Neonatal death

5NDUFS6
Def

Neonatal death

5PLEC
Def

Neonatal death

5SFTPB
Def

Neonatal death

Neonatal death

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 7; DEE7

5GPHN
Mod

Neonatal death

5SUCLG1
Mod

Neonatal death

Neonatal death

5GBA1
Def

Neonatal death

5HSPG2
Def

Neonatal death

5MOCS2
Def

Neonatal death

Neonatal death

Neonatal death

5PET100
Def

Neonatal death

5SDHD
DefSF

Neonatal death

Neonatal death

5NEB
Def

Neonatal death

Neonatal death

4AARS2
Def

Neonatal death

4FGA
Def

Neonatal death

4FGB
Def

Neonatal death

4FGG
Def

Neonatal death

4ALG8
Def

Neonatal death

4PHGDH
Def

Neonatal death

4MBTPS2
Def

Neonatal death

4CTSD
Def

Neonatal death

4FGFR3
Def

Neonatal death

4HADHB
Def

Neonatal death

4HTRA2
Def

Neonatal death

4RMND1
Def

Neonatal death

4SCN4A
Def

Neonatal death

4EDNRB
Mod

Neonatal death

Neonatal death

Neonatal death

4AP1S1
Def

Neonatal death

4NDUFS4
Def

NADH:ubiquinone oxidoreductase subunit S4

3PPT1
Def

palmitoyl-protein thioesterase 1

3GET3
Lim

Neonatal death

3BRCA1
DefSF

BRCA1 DNA repair associated

3ETFA
Def

Neonatal death

3ETFB
Def

Neonatal death

3ETFDH
Def

Neonatal death

3FAM20C
Def

Neonatal death

3FLNB
Def

Neonatal death

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