Genes associated with “NEDSPLB”
4 genes found30 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
13NEDSPLB
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES; NEDSPLB
13
HPOnone
ClinVarnone
Phen2Genenone
Open Targetsnone
PanelAppnone
-
-
-
NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, HYPOMYELINATING LEUKODYSTROPHY, AND BRAIN ABNORMALITIES; NEDSPLB
13PI4KA
Gastrointestinal defects and immunodeficiency syndrome 2
13
HPOnone
ClinVar98%
Phen2Genenone
Open Targetsnone
PanelAppnone
-
29
-
Gastrointestinal defects and immunodeficiency syndrome 2
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.