LBX1

Chr 10AR

ladybird homeobox 1

Also known as: CCHS3, HPX-6, HPX6, LBX1H, homeobox

NCBI Gene: 10660ENSG00000138136UniProt: P52954OMIM: 604255

This gene and the orthologous mouse gene were found by their homology to the Drosophila lady bird early and late homeobox genes. In the mouse, this gene is a key regulator of muscle precursor cell migration and is required for the acquisition of dorsal identities of forelimb muscles. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Central hypoventilation syndrome, congenital, 3MIM #619483
AR

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.59
LOEUF
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.59LOEUF
pLI 0.679
Z-score 2.29
OE 0.13 (0.04–0.59)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.11Z-score
OE missense 0.75 (0.65–0.88)
121 obs / 160.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.13 (0.04–0.59)
0≤0.351.4
Missense OE?0.75 (0.65–0.88)
0≤0.61.4
Synonymous OE?0.99
0≤1.21.6
LoF obs/exp: 1 / 8.0Missense obs/exp: 121 / 160.7Syn Z: 0.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LBX1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients