EVC

Chr 4

EvC ciliary complex subunit 1

Also known as: DWF-1, EVC1, EVCL

NCBI Gene: 2121 ENSG00000072840 UniProt: P57679

The protein is a component of the EvC complex that positively regulates ciliary Hedgehog signaling and is involved in endochondral growth and skeletal development. Mutations cause Ellis-van Creveld syndrome and Weyers acrofacial dysostosis, both skeletal dysplasias affecting limb and craniofacial development. Inheritance is autosomal recessive for Ellis-van Creveld syndrome and autosomal dominant for Weyers acrofacial dysostosis.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEllis-van Creveld syndrome

UniProtAcrofacial dysostosis, Weyers type

Clinical highlights

Gene-disease validity (ClinGen)

Ellis-van Creveld syndrome · ARDefinitivesufficient evidence for diagnostic panels

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

1.06

LOEUF

LOF

Mechanism· G2P

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GeneReview available — EVC