CCBE1

Chr 18AR

collagen and calcium binding EGF domains 1

Also known as: HKLLS1

NCBI Gene: 147372 ENSG00000183287 UniProt: Q6UXH8 OMIM: 612753

The protein is required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryonic development. Mutations cause Hennekam lymphangiectasia-lymphedema syndrome 1, a generalized lymphatic dysplasia with autosomal recessive inheritance. This gene shows minimal constraint against loss-of-function variants (pLI near zero), which is consistent with its recessive disease pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hennekam lymphangiectasia-lymphedema syndrome 1MIM #235510

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.01

LOEUF

LOF

Mechanism· G2P