CHRDL1

Chr XXLR

chordin like 1

ENSG00000101938 UniProt: Q9BU40 OMIM: 300350

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Antagonizes the function of BMP4 by binding to it and preventing its interaction with receptors. Alters the fate commitment of neural stem cells from gliogenesis to neurogenesis. Contributes to neuronal differentiation of neural stem cells in the brain by preventing the adoption of a glial fate. May play a crucial role in dorsoventral axis formation. May play a role in embryonic bone formation (By similarity). May also play an important role in regulating retinal angiogenesis through modulation of BMP4 actions in endothelial cells. Plays a role during anterior segment eye development

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Megalocornea 1, X-linkedMIM #309300

XLR

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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