BCL9

Chr 1

BCL9 transcription coactivator

Also known as: LGS

NCBI Gene: 607 ENSG00000116128 UniProt: O00512

BCL9 encodes a protein that promotes beta-catenin transcriptional activity in Wnt signaling pathways and is highly constrained against loss-of-function variants (LOEUF 0.381). Mutations in BCL9 cause neurodevelopmental disorders with intellectual disability, though the specific phenotypic spectrum and inheritance patterns are detailed in GeneReviews. The gene's high constraint score suggests that heterozygous loss-of-function variants are likely pathogenic in the neurodevelopmental context.

GeneReviews ResearchSummary from RefSeq, UniProt

BCL9 is associated with B-cell acute lymphoblastic leukemia. It may be a target of translocation in B-cell malignancies with abnormalities of 1q21. Its function is unknown. The overexpression of BCL9 may be of pathogenic significance in B-cell malignancies. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)

congenital heart disease · ADLimitednot for standalone diagnostic reporting

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.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.38

LOEUF

LOF

Mechanism· predicted

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GeneReview available — BCL9