LHX1
Chr 17LIM homeobox 1
Also known as: LIM-1, LIM1
LHX1 encodes a LIM domain-containing transcription factor that is important for development of the renal and urogenital systems, as well as early mesoderm formation and neurogenesis. Mutations cause Mayer-Rokitansky-Kuster-Hauser syndrome, characterized by anomalies in the female genital tract. The gene shows low constraint against loss-of-function variants (pLI 0.03, LOEUF 0.74), and inheritance pattern information requires further clinical correlation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
LHX1 · 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