Genes associated with “BFNS1”

54 genes found

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

22

score

ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 7

Frequency

-

P/LP Variants

237

OT Score

-

Consider

47 genes

Score

Gene

Evidence

Freq

P/LP

OT

Description

Def

17

-

9

-

-

Def

{Nicotine addiction, susceptibility to}

16

-

12

-

{Nicotine addiction, susceptibility to}

14

-

7

-

-

14

-

7

-

-

SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

13

-

-

-

SEIZURES, BENIGN FAMILIAL NEONATAL, 1; BFNS1

Def

13

-

6

-

-

Def

12

-

4

-

-

Mod

12

-

5

-

-

10

-

5

-

-

10

-

7

-

-

10

-

5

-

-

10

-

5

-

-

10

-

7

-

-

10

-

8

-

-

10

-

7

-

-

10

-

5

-

-

10

-

5

-

-

10

-

7

-

-

10

-

5

-

-

10

-

7

-

-

10

-

7

-

-

10

-

5

-

-

10

-

7

-

-

10

-

5

-

-

10

-

5

-

-

10

-

6

-

-

10

-

5

-

-

10

-

5

-

-

10

-

5

-

-

10

-

5

-

-

10

-

5

-

-

10

-

5

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

9

-

4

-

-

8

-

3

-

-

8

-

3

-

-

8

-

3

-

-

8

-

3

-

-

8

-

3

-

-

8

-

3

-

-

8

-

3

-

-

Possible

2 genes — click to expand

Score

Gene

Evidence

Freq

P/LP

OT

Description

Def

7

-

1

-

-

6

-

2

-

-

Related phenotype searches

Intellectual disability Global developmental delay Speech/language delay Neurodegeneration Developmental regression Seizures Epileptic encephalopathy Status epilepticus

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