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CELSR1

Chr 22q13.31

cadherin EGF LAG seven-pass G-type receptor 1

Aliases:
ME2, HFMI2, FMI2, CDHF9, ADGRC1
MANE:
ENST00000674500.2
OMIM: 604523 ↗NCBI: 9620 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Fetal anomalies

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Primary lymphoedema

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • DDG2P

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

  • Monogenic hearing loss

Disease associations (Open Targets)

  • lymphatic malformation

    0.72

  • lymphatic malformation 9

    0.63

  • yellow nail syndrome

    0.34

  • spina bifida

    0.32

  • kidney disorder

    0.29

  • type 1 diabetes mellitus

    0.29

  • supraventricular ectopy

    0.29

  • poisoning

    0.29

  • alcohol drinking

    0.27

  • thrombophilia

    0.25

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

Protein function (UniProt)

Cadherin EGF LAG seven-pass G-type receptor 1

Receptor that may have an important role in cell/cell signaling during nervous system formation

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.