ADGRG1

Chr 16AR

adhesion G protein-coupled receptor G1

Also known as: BFPP, BPPR, CDCBM14B, CDCBM15A, GPR56, TM7LN4, TM7XN1

NCBI Gene: 9289 ENSG00000205336 UniProt: Q9Y653 OMIM: 604110

ADGRG1 encodes an adhesion G-protein coupled receptor that regulates cortical development by maintaining pial basement membrane integrity and controlling neuronal migration through RhoA pathway signaling. Mutations cause autosomal recessive bilateral frontoparietal or perisylvian polymicrogyria, representing complex cortical dysplasias with other brain malformations. The gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the G protein-coupled receptor family and regulates brain cortical patterning. The encoded protein binds specifically to transglutaminase 2, a component of tissue and tumor stroma implicated as an inhibitor of tumor progression. Mutations in this gene are associated with a brain malformation known as bilateral frontoparietal polymicrogyria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cortical dysplasia, complex, with other brain malformations 14A, (bilateral frontoparietal)MIM #606854

Cortical dysplasia, complex, with other brain malformations 14B, (bilateral perisylvian)MIM #615752

Clinical highlights

Gene-disease validity (ClinGen)

bilateral frontoparietal polymicrogyria · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.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

0.89

LOEUF

LOF

Mechanism· G2P