Genes associated with “DEE53”

48 genes foundOpen Targets: atypical juvenile parkinsonism
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
SYNJ1 →

synaptojanin 1

32
score
ClinGen: DefinitiveGTR ↑

Developmental and epileptic encephalopathy 53

Frequency
-
P/LP Variants
87
OT Score
0.73

Consider

8 genes
15DNAJC6

DnaJ heat shock protein family (Hsp40) member C6

13DEE53

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 53; DEE53

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

11ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

10PMP22
Def

peripheral myelin protein 22

10HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

8SPG11
Def

SPG11 vesicle trafficking associated, spatacsin

Possible

20 genes — click to expand
8SPTBN4
Def

spectrin beta, non-erythrocytic 4

8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

6MECP2
Def

methyl-CpG binding protein 2

6PODXL

podocalyxin like

5KCNN2

potassium calcium-activated channel subfamily N member 2

5GRID2

glutamate ionotropic receptor delta type subunit 2

5SULT4A1

sulfotransferase family 4A member 1

5ATXN7L1

ataxin 7 like 1

5HIP1

huntingtin interacting protein 1

5RREB1

ras responsive element binding protein 1

4TPP1
Def

tripeptidyl peptidase 1

4MPZ
Def

myelin protein zero

4GALC
Def

galactosylceramidase

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

4HTT
Def

huntingtin

4GLB1
Def

galactosidase beta 1

4HEXB
Def

hexosaminidase subunit beta

4HTRA2
Def

HtrA serine peptidase 2

4SPTBN2
Def

spectrin beta, non-erythrocytic 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.