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CHRDL1

Chr Xq23

chordin like 1

Aliases:
NRLN1, CHL
MANE:
ENST00000372042.6

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Corneal abnormalities

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • DDG2P

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Structural eye disease

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Fetal anomalies

    X-LINKED: hemizygous mutation in males, biallelic mutations in females
  • Intellectual disability

    X-LINKED: hemizygous mutation in males, biallelic mutations in females

Disease associations (Open Targets)

  • isolated congenital megalocornea

    0.71
  • megalocornea

    0.63
  • spinal stenosis

    0.29
  • Inguinal hernia

    0.22
  • ventral hernia

    0.22
  • hereditary disease

    0.19
  • low grade glioma

    0.18
  • coronary artery disorder

    0.17
  • Umbilical hernia

    0.16
  • response to surgery

    0.16

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Chordin-like protein 1

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

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.