Genes associated with “LEMSPAD”
13 genes foundOpen Targets: leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome3 ClinVar P/LP variants
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 detailsConsider
3 genesScore
Gene
Evidence
Freq
P/LP
OT
Description
17EIF2AK1
eukaryotic translation initiation factor 2 alpha kinase 1
17
HPOnone
ClinVar32%
Phen2Genenone
Open Targets46%
PanelAppnone
-
2
0.46
eukaryotic translation initiation factor 2 alpha kinase 1
13LEMSPAD
LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
13
HPOnone
ClinVarnone
Phen2Genenone
Open Targetsnone
PanelAppnone
-
-
-
LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME; LEMSPAD
Possible
6 genes — click to expand
Score
Gene
Evidence
Freq
P/LP
OT
Description
DIS3 like 3'-5' exoribonuclease 2
8
DIS3L2Def
HPOnone
ClinVarnone
Phen2Genenone
Open Targets4%
PanelAppnone
-
-
0.04
DIS3 like 3'-5' exoribonuclease 2
Zic family zinc finger 1
adenylate cyclase 5
insulin like growth factor 2 mRNA binding protein 1
5
HPOnone
ClinVarnone
Phen2Genenone
Open Targets4%
PanelAppnone
-
-
0.04
insulin like growth factor 2 mRNA binding protein 1
protocadherin related 15
Related phenotype searches
Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.