Genes associated with “LEUDEN”

45 genes foundOpen Targets: leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
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
hover for details

Strong Candidates

1 gene
1
EIF2AK2 →

eukaryotic translation initiation factor 2 alpha kinase 2

24
score
GTR ↑

Dystonia 33

Frequency
-
P/LP Variants
9
OT Score
0.66

Consider

9 genes
13LEUDEN

LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME; LEUDEN

13SCN1A
Def

sodium voltage-gated channel alpha subunit 1

12SCN8A
Def

sodium voltage-gated channel alpha subunit 8

11KCNMA1
Def

potassium calcium-activated channel subfamily M alpha 1

11ATP1A3
Def

ATPase Na+/K+ transporting subunit alpha 3

10PMP22
Def

peripheral myelin protein 22

10CACNA1A

calcium voltage-gated channel subunit alpha1 A

10PLP1
Def

proteolipid protein 1

10HPRT1
Def

hypoxanthine phosphoribosyltransferase 1

Possible

19 genes — click to expand
8SPTBN4
Def

spectrin beta, non-erythrocytic 4

8ATP2B2
Def

ATPase plasma membrane Ca2+ transporting 2

8MYO5A
Def

myosin VA

5GRID2

glutamate ionotropic receptor delta type subunit 2

5KCNN2

potassium calcium-activated channel subfamily N member 2

5SULT4A1

sulfotransferase family 4A member 1

4TPP1
Def

tripeptidyl peptidase 1

4ASPA
Def

aspartoacylase

4MPZ
Def

myelin protein zero

4GALC
Def

galactosylceramidase

4TUBB4A
Def

tubulin beta 4A class IVa

4KCNQ1
DefSF

potassium voltage-gated channel subfamily Q member 1

4DST
Def

dystonin

4HTT
Def

huntingtin

4PDGFRA
Def

platelet derived growth factor receptor alpha

4HCN2
Def

hyperpolarization activated cyclic nucleotide gated potassium and sodium channel 2

4KCNA1
Def

potassium voltage-gated channel subfamily A member 1

4SPTBN2
Def

spectrin beta, non-erythrocytic 2

4HTRA2
Def

HtrA serine peptidase 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.