Genes associated with “DEE4”

Diagnostic yield calculator →
73 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
205
OT Score
0.85

Consider

12 genes
17CDKL5
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

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

peripheral myelin protein 22

6ARX
Def

aristaless related homeobox

6PLP1
Def

proteolipid protein 1

6MECP2
Def

methyl-CpG binding protein 2

6SHANK3
Def

SH3 and multiple ankyrin repeat domains 3

6DPM2
Mod
4SCN8A
Def

sodium voltage-gated channel alpha subunit 8

4MPZ
Def

myelin protein zero

4CSTB
Def

cystatin B

4MYO5A
Def

myosin VA

4RELN
Def

reelin

4SPTBN4
Def

spectrin beta, non-erythrocytic 4

4DST
Def

dystonin

4SPTBN2
Def

spectrin beta, non-erythrocytic 2

4PSAP
Def

prosaposin

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4SLC6A5
Def

solute carrier family 6 member 5

4TUBB4A
Def

tubulin beta 4A class IVa

4ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

4GJB1
Def

gap junction protein beta 1

4ASPA
Def

aspartoacylase

4GABRB3
Def

gamma-aminobutyric acid type A receptor subunit beta3

4LAMA2
Def

laminin subunit alpha 2

4CACNA1G
Def

calcium voltage-gated channel subunit alpha1 G

4GABRA1
Def

gamma-aminobutyric acid type A receptor subunit alpha1

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

4HTT
Def

huntingtin

4AK1
4ANGPTL2
4MVB12B
4PBX3
4PIP5KL1
4RALGPS1
4ST6GALNAC4
4ST6GALNAC6
4ZBTB34
4ZBTB43
3CACNA1A

calcium voltage-gated channel subunit alpha1 A

3ZNF423
Mod

zinc finger protein 423

3CACNA2D2
Mod

calcium voltage-gated channel auxiliary subunit alpha2delta 2

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.