Genes associated with “DEE53”

48 genes foundOpen Targets: age of onset of cognitive disorder86 ClinVar P/LP variants
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
SYNJ1 →

synaptojanin 1

26
score
ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 53

Frequency
-
P/LP Variants
86
OT Score
0.32

Consider

5 genes
13DEE53

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53; DEE53

11ARFGEF2
Def

ARF guanine nucleotide exchange factor 2

10ATP2B1

ATPase plasma membrane Ca2+ transporting 1

9DSCAM

DS cell adhesion molecule

9GABRA2

gamma-aminobutyric acid type A receptor subunit alpha2

Possible

14 genes — click to expand
8RBFOX1

RNA binding fox-1 homolog 1

8BIN1
Def

bridging integrator 1

7HNRNPA3

heterogeneous nuclear ribonucleoprotein A3

7TREM2

triggering receptor expressed on myeloid cells 2

6CSE1L

chromosome segregation 1 like

5PHF14

PHD finger protein 14

4PLPPR4

phospholipid phosphatase related 4

4SDR42E2

short chain dehydrogenase/reductase family 42E, member 2

4TMC5

transmembrane channel like 5

3ZNF703

zinc finger protein 703

3REL
Mod

REL proto-oncogene, NF-kB subunit

3HSD17B12

hydroxysteroid 17-beta dehydrogenase 12

3CEP44

centrosomal protein 44

3LRATD2

LRAT domain containing 2

Related phenotype searches

Epileptic encephalopathyDravet syndromeHSPCMT/HMSNSpinocerebellar ataxiaCerebellar ataxiaEpisodic ataxiaMuscular dystrophy

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