Genes associated with “BFNS1”

93 genes foundOpen Targets: seizures, benign familial neonatal, 1
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

1 gene
1
KCNQ2 →

potassium voltage-gated channel subfamily Q member 2

33
score
ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 7

Frequency
-
P/LP Variants
241
OT Score
0.68

Consider

47 genes
18CHRNA4
Def

cholinergic receptor nicotinic alpha 4 subunit

17EEF1A2
Def
14GMEB2
14YTHDF1
13BFNS1

SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

13RTEL1
Def
12COL9A3
Def
12DNAJC5
Mod
10ABHD16B
10ARFGAP1
10ARFRP1
10BHLHE23
10BIRC7
10COL20A1
10FNDC11
10HAR1A
10HAR1B
10HELZ2
10LIME1
10NKAIN4
10PPDPF
10PRPF6
10PTK6
10SAMD10
10SLC2A4RG
10STMN3
10TNFRSF6B
10TPD52L2
10UCKL1
10ZBTB46
10ZGPAT
10ZNF512B
9DIDO1
9GID8
9MRGBP
9NTSR1
9SLC17A9
9SLCO4A1
9SOX18
9TCFL5
8LKAAEAR1
8MYT1
8NPBWR2
8OPRL1
8PCMTD2
8RGS19
8TCEA2

Possible

23 genes — click to expand
7ATP1A3
Def
6GATA5
6SCN1A
Def

sodium voltage-gated channel alpha subunit 1

6SYN1
Def

synapsin I

5SCN2A
Def

sodium voltage-gated channel alpha subunit 2

4LGI1
Def

leucine rich glioma inactivated 1

4AKT3
Def

AKT serine/threonine kinase 3

4AP3B2
Def

adaptor related protein complex 3 subunit beta 2

4ADGRV1
Def

adhesion G protein-coupled receptor V1

4UBE3A
Def

ubiquitin protein ligase E3A

4SZT2
Def

SZT2 subunit of KICSTOR complex

4GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

4DNM1
Def

dynamin 1

4HNRNPH2
Def

heterogeneous nuclear ribonucleoprotein H2

4TBC1D24
Def

TBC1 domain family member 24

4DGKE
Def

diacylglycerol kinase epsilon

4KCNA2
Def

potassium voltage-gated channel subfamily A member 2

4KDM1A
Def

lysine demethylase 1A

4GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

4RYR2
DefSF

ryanodine receptor 2

3HTT
Def

huntingtin

3SCN1B
Def

sodium voltage-gated channel beta subunit 1

3PLCB1
Def

phospholipase C beta 1

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.