Genes associated with “DEE1”

Diagnostic yield calculator →
166 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:
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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
102
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
WWOX →

WW domain containing oxidoreductase

22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
174
OT Score
0.56
5
TBC1D24 →

TBC1 domain family member 24

22
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
184
OT Score
0.56
6
SCN8A →

sodium voltage-gated channel alpha subunit 8

20
score
ClinGen: DefinitiveGTR ↑
Frequency
-
P/LP Variants
1
OT Score
0.28

Consider

22 genes
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

18SCN2A
Def
18CDKL5
Def

cyclin dependent kinase like 5

17CACNA1A

calcium voltage-gated channel subunit alpha1 A

16GABRB3
Def

gamma-aminobutyric acid type A receptor subunit beta3

16GNAO1
Def

G protein subunit alpha o1

15ARHGEF9
Def
14CSNK1E

casein kinase 1 epsilon

13DEE1

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 1; DEE1

13RS1
Def
13PACS2
Def

phosphofurin acidic cluster sorting protein 2

11SLC25A12
Mod

solute carrier family 25 member 12

10UFSP2

UFM1 specific peptidase 2

9CHD2
Def
9MEF2C
Def
9NR4A2
Def
9PCDH19
Def
9TBR1
Def
9MDH2

malate dehydrogenase 2

Possible

127 genes — click to expand
7CCNF
Lim
7ACVR1
Def
7ATP1A2
Def
7DNM1
Def
7GAN
Def
7GCSH
Def
7HNRNPU
Def
7OCA2
Def
7PDK3
Def
7TFR2
Def
7THOC6
Def
7UBE3A
Def
7REPS2

RALBP1 associated Eps domain containing 2

7SLC35A2
Def

solute carrier family 35 member A2

6CLDN9
Mod
6POLA1
Mod
6RASA1
Dis
6SLC4A10
Str
6SRRM2
6PMP22
Def

peripheral myelin protein 22

6MECP2
Def

methyl-CpG binding protein 2

6PLP1
Def

proteolipid protein 1

5BAZ2B
Lim
5ALG13
Def

ALG13 UDP-N-acetylglucosaminyltransferase subunit

5SZT2
Def

SZT2 subunit of KICSTOR complex

4ACTL6B
4ACVR1C
4AMDHD2
4ARL6IP6
4ATMIN
4ATP10A
4ATP10A-DT
4ATP6V0C
4BCO1
4BICDL2
4C16ORF46
4CCDC148
4CD302
4CDYL2
4CEMP1
4CENPN
4CFAP96
4CLDN6
4CMC2
4COX7C
4CRE1
4CYTIP
4DAPL1
4DPP4
4DYNLRB2
4EDIL3
4EDIL3-DT
4FLYWCH1
4FLYWCH2
4GABRA5
4GABRG3
4GALNT13
4GALNT5
4GOLGA6L24
4GOLGA6L25
4GOLGA8F
4GOLGA8G
4GPD2
4HAPLN1
4HCFC1R1
4HERC2
4IL32
4ITGB6
4KCNJ3
4KCTD5
4KREMEN2
4LY75
4LY75-CD302
4MARCHF7
4MMP25
4MYRACL
4NPAP1
4PAQR4
4PCYT1B
4PDPK1
4PKD1L2
4PKMYT1
4PKP4
4PLA2R1
4PLCG2
4PRSS21
4PRSS22
4PRSS27
4PRSS33
4PRSS41
4PSMD14
4PWAR1
4PWAR4
4PWAR5
4PWAR6
4PWARSN
4PWRN1
4PWRN2
4PWRN3
4PWRN4
4RBMS1
4SNRPN
4SNURF
4TANC1
4TMEM161B
4TMEM161B-DT
4TNFRSF12A
4TPTEP2-CSNK1E
4TRE-TTC2-2
4UPP2
4WDSUB1
4ZG16B
4ZSCAN10
4SPTBN4
Def

spectrin beta, non-erythrocytic 4

4DST
Def

dystonin

4ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

4MYO5A
Def

myosin VA

4RELN
Def

reelin

4ELP2
Def

elongator acetyltransferase complex subunit 2

4LAMA2
Def

laminin subunit alpha 2

4PPT1
Def

palmitoyl-protein thioesterase 1

4PSAP
Def

prosaposin

4CSTB
Def

cystatin B

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4ASPA
Def

aspartoacylase

4GALC
Def

galactosylceramidase

4ST3GAL3
Mod

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