DCHS1

Chr 11ADAR

dachsous cadherin-related 1

Also known as: CDH25, CDHR6, FIB1, MMVP2, MVP2, PCDH16, VMLDS1

NCBI Gene: 8642 ENSG00000166341 UniProt: Q96JQ0 OMIM: 603057

DCHS1 encodes a calcium-dependent cell adhesion protein that regulates neuroprogenitor cell proliferation and differentiation, and is critical for proper mitral valve morphogenesis by controlling cell migration during valve formation. Mutations cause Van Maldergem syndrome 1 and mitral valve prolapse 2, with both autosomal dominant and autosomal recessive inheritance patterns reported. This gene is highly constrained against loss-of-function variants, indicating that such variants are likely to be pathogenic.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene is a member of the cadherin superfamily whose members encode calcium-dependent cell-cell adhesion molecules. The encoded protein has a signal peptide, 27 cadherin repeat domains and a unique cytoplasmic region. This particular cadherin family member is expressed in fibroblasts but not in melanocytes or keratinocytes. The cell-cell adhesion of fibroblasts is thought to be necessary for wound healing. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitral valve prolapse 2MIM #607829

Van Maldergem syndrome 1MIM #601390

Clinical highlights

Gene-disease validity (ClinGen)

van Maldergem syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· G2P