EVC2

Chr 4ARAD

EvC ciliary complex subunit 2

Also known as: LBN, WAD

NCBI Gene: 132884 ENSG00000173040 UniProt: Q86UK5 OMIM: 607261

The protein is a component of the EvC complex that positively regulates ciliary Hedgehog signaling and plays a critical role in bone formation and skeletal development. Mutations cause Ellis-van Creveld syndrome (chondroectodermal dysplasia), an autosomal recessive skeletal dysplasia, and Weyers acrofacial dysostosis, which combines limb and facial abnormalities and follows autosomal dominant inheritance. The gene shows minimal constraint against loss-of-function variants, consistent with its recessive disease mechanism for the more severe phenotype.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ellis-van Creveld syndromeMIM #225500

Weyers acrofacial dysostosisMIM #193530

Clinical highlights

Gene-disease validity (ClinGen)

acrofacial dysostosis, Weyers type · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

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)

—

P/LP submissions

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P/LP missense

1.06

LOEUF

LOF

Mechanism· G2P

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GeneReview available — EVC2