CDH15

Chr 16AD

cadherin 15

Also known as: CDH14, CDH3, CDHM, MCAD, MRD3

NCBI Gene: 1013 ENSG00000129910 UniProt: P55291 OMIM: 114019

This gene encodes M-cadherin, a calcium-dependent cell adhesion protein that is essential for myogenesis and provides a trigger for terminal muscle cell differentiation. Mutations cause autosomal dominant intellectual developmental disorder. The gene is highly intolerant to loss-of-function variants, indicating that proper protein function is critical for normal development.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is a member of the cadherin superfamily of genes, encoding calcium-dependent intercellular adhesion glycoproteins. Cadherins consist of an extracellular domain containing 5 cadherin domains, a transmembrane region, and a conserved cytoplasmic domain. Transcripts from this particular cadherin are expressed in myoblasts and upregulated in myotubule-forming cells. The protein is thought to be essential for the control of morphogenetic processes, specifically myogenesis, and may provide a trigger for terminal muscle cell differentiation. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal dominant 3MIM #612580

Clinical highlights

Gene-disease validity (ClinGen)

intellectual disability · ADDisputedevidence questions this relationship

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

1.10

LOEUF

LOF*

Mechanism· G2P