Genes associated with “HLD3”

2 genes foundOpen Targets: hypomyelinating leukodystrophy 3
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
AIMP1 →

aminoacyl tRNA synthetase complex interacting multifunctional protein 1

29
score
ClinGen: DefinitiveGTR ↑

Leukodystrophy, hypomyelinating, 3

Frequency
-
P/LP Variants
12
OT Score
0.78

Consider

1 gene
13HLD3

LEUKODYSTROPHY, HYPOMYELINATING, 3; HLD3

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Data aggregated from HPO/Monarch, ClinVar, OMIM (phenotypes + clinical synopsis), Open Targets, PanelApp, Phen2Gene, and Gene2Phenotype. Click a gene to view full details.