CHRDL1

Chr X

chordin like 1

Also known as: CHL, MGC1, MGCN, NRLN1, VOPT, dA141H5.1

NCBI Gene: 91851 ENSG00000101938 UniProt: Q9BU40

This gene encodes an antagonist of bone morphogenetic protein 4 (BMP4) that regulates neural stem cell differentiation from gliogenesis to neurogenesis and plays a role in anterior segment eye development and retinal angiogenesis. Mutations cause X-linked recessive megalocornea 1, characterized by enlarged corneal diameter. The gene shows moderate constraint against loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an antagonist of bone morphogenetic protein 4. The encoded protein may play a role in topographic retinotectal projection and in the regulation of retinal angiogenesis in response to hypoxia. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMegalocornea 1, X-linked

Clinical highlights

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

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P/LP missense

0.52

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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