Genes associated with “DEE1”

90 genes foundOpen Targets: developmental and epileptic encephalopathy, 1
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

6 genes
1
ARX →

aristaless related homeobox

35
score
ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 1

Frequency
-
P/LP Variants
104
OT Score
0.79
2
SCN1A →

sodium voltage-gated channel alpha subunit 1

28
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
3
OT Score
0.45
3
KCNQ2 →

potassium voltage-gated channel subfamily Q member 2

27
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
5
OT Score
0.47
4
TBC1D24 →

TBC1 domain family member 24

22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
184
OT Score
0.56
5
WWOX →

WW domain containing oxidoreductase

22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
170
OT Score
0.55
6
CDKL5 →

cyclin dependent kinase like 5

20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
2
OT Score
0.27

Consider

22 genes
20SCN8A
Def

sodium voltage-gated channel alpha subunit 8

19SCN2A
Def

sodium voltage-gated channel alpha subunit 2

19KCNA2
Def

potassium voltage-gated channel subfamily A member 2

19SLC2A1
Def

solute carrier family 2 member 1

19GRIN1
Def

glutamate ionotropic receptor NMDA type subunit 1

19SYNJ1
Def

synaptojanin 1

18PACS2
Def

phosphofurin acidic cluster sorting protein 2

17CACNA1A

calcium voltage-gated channel subunit alpha1 A

16ARHGEF9
Def

Cdc42 guanine nucleotide exchange factor 9

16GNAO1
Def

G protein subunit alpha o1

16PCDH19
Def

protocadherin 19

14CSNK1E

casein kinase 1 epsilon

14GABRB3
Def

gamma-aminobutyric acid type A receptor subunit beta3

13DEE1

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1

11SLC25A12
Mod

solute carrier family 25 member 12

10ALDH7A1
Def

aldehyde dehydrogenase 7 family member A1

10UFSP2

UFM1 specific peptidase 2

10CHD2
Def

chromodomain helicase DNA binding protein 2

10RS1
Def

retinoschisin 1

9MDH2

malate dehydrogenase 2

8DNM1
Def

dynamin 1

8HNRNPU
Def

heterogeneous nuclear ribonucleoprotein U

Possible

55 genes — click to expand
7CCNF
Lim
7GAN
Def
7GCSH
Def
7PDK3
Def
7THOC6
Def
7REPS2

RALBP1 associated Eps domain containing 2

7SLC35A2
Def

solute carrier family 35 member A2

6CLDN9
Mod
6POLA1
Mod
6SRRM2
5STXBP1
Def

syntaxin binding protein 1

5ALG13
Def

ALG13 UDP-N-acetylglucosaminyltransferase subunit

5SZT2
Def

SZT2 subunit of KICSTOR complex

4AMDHD2
4ATMIN
4ATP6V0C
4BCO1
4BICDL2
4C16ORF46
4CDYL2
4CEMP1
4CENPN
4CFAP96
4CLDN6
4CMC2
4DYNLRB2
4FLYWCH1
4FLYWCH2
4HCFC1R1
4IL32
4KCTD5
4KREMEN2
4MMP25
4PAQR4
4PCYT1B
4PDPK1
4PKD1L2
4PKMYT1
4PLCG2
4PRSS21
4PRSS22
4PRSS27
4PRSS33
4PRSS41
4TNFRSF12A
4TPTEP2-CSNK1E
4ZG16B
4ZSCAN10
4ST3GAL3
Mod

ST3 beta-galactoside alpha-2,3-sialyltransferase 3

4KCNC2
Def

potassium voltage-gated channel subfamily C member 2

3GABRG2
Def

gamma-aminobutyric acid type A receptor subunit gamma2

3PLCB1
Def

phospholipase C beta 1

3ATP1A2
Def

ATPase Na+/K+ transporting subunit alpha 2

3SCN1B
Def

sodium voltage-gated channel beta subunit 1

3SCN3A
Def

sodium voltage-gated channel alpha subunit 3

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.