LMX1A
Chr 1ADLIM homeobox transcription factor 1 alpha
Also known as: DFNA7, LMX1, LMX1.1
LMX1A encodes a transcription factor that activates insulin gene transcription and is required for roof plate development in the central nervous system and specification of dorsal cell fates during embryogenesis. Mutations cause autosomal dominant nail-patella syndrome, characterized by nail dysplasia, absent or hypoplastic patellae, elbow abnormalities, and nephropathy. The gene is highly constrained against loss-of-function variants, indicating that haploinsufficiency is likely pathogenic.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
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
LMX1A · 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
External Resources
Links to major genomics databases and tools