Genes associated with “DEE4”

75 genes foundOpen Targets: developmental and epileptic encephalopathy, 4
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
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Strong Candidates

1 gene
1
STXBP1 →

syntaxin binding protein 1

36
score
ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 4

Frequency
-
P/LP Variants
200
OT Score
0.85

Consider

12 genes
19CDKL5
Def

cyclin dependent kinase like 5

15ENG
Def
13DEE4

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 4; DEE4

13PTRH1

peptidyl-tRNA hydrolase 1 homolog

11LMX1B
Def
11LRSAM1
Def
10ZP2

zona pellucida glycoprotein 2

9CFAP157
9NIBAN2
9TTC16
8SH2D3C
8TOR2A

Possible

45 genes — click to expand
7COL7A1
Def
7ETHE1
Def
6CDK9
6GARNL3
6RPL12
6SLC2A8
6ZNF79
6DPM2
Mod
6PMP22
Def

peripheral myelin protein 22

6SCN1A
Def

sodium voltage-gated channel alpha subunit 1

6PLP1
Def

proteolipid protein 1

6HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

6MECP2
Def

methyl-CpG binding protein 2

6ARX
Def

aristaless related homeobox

6FMR1
Def

fragile X messenger ribonucleoprotein 1

4AK1
4ANGPTL2
4MVB12B
4PBX3
4PIP5KL1
4RALGPS1
4ST6GALNAC4
4ST6GALNAC6
4ZBTB34
4ZBTB43
4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

4GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

4SCN1B
Def

sodium voltage-gated channel beta subunit 1

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

4KCNC2
Def

potassium voltage-gated channel subfamily C member 2

4DNM1
Def

dynamin 1

4TPP1
Def

tripeptidyl peptidase 1

4GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

4PDGFRA
Def

platelet derived growth factor receptor alpha

4ASPA
Def

aspartoacylase

4SLC17A5
Def

solute carrier family 17 member 5

4HTT
Def

huntingtin

4MYO5A
Def

myosin VA

4ADAM22
Def

ADAM metallopeptidase domain 22

4AP3B2
Def

adaptor related protein complex 3 subunit beta 2

4MAG
Def

myelin associated glycoprotein

4CSTB
Def

cystatin B

4UBE3A
Def

ubiquitin protein ligase E3A

4ALDH5A1
Def

aldehyde dehydrogenase 5 family member A1

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.