Genes associated with “EPILX1

9 genes foundOpen Targets: epilepsy, X-linked 1, with variable learning disabilities and behavior disorders
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
SYN1

synapsin I

34
score
ClinGen: DefinitiveGTR ↑

Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders

Frequency
-
P/LP Variants
8
OT Score
0.77

Consider

2 genes

EPILEPSY, X-LINKED 1, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS; EPILX1

13CHD8
Def

chromodomain helicase DNA binding protein 8

Possible

3 genes — click to expand
6PTEN
DefSF

phosphatase and tensin homolog

tripartite motif containing 71

4FGFR3
Def

fibroblast growth factor receptor 3

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