LMX1B
Chr 9ADLIM homeobox transcription factor 1 beta
Also known as: FSGS10, LMX1.2, NPS1
This transcription factor is essential for normal development of dorsal limb structures, the glomerular basement membrane, the anterior eye segment, and dopaminergic and serotonergic neurons. Mutations cause nail-patella syndrome, an autosomal dominant disorder characterized by nail dysplasia, absent or hypoplastic patellae, elbow abnormalities, and nephropathy that can progress to chronic kidney disease. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.415), consistent with its role in multiple developmental processes.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LMX1B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools