ADGRG1
Chr 16ARadhesion G protein-coupled receptor G1
Also known as: BFPP, BPPR, CDCBM14B, CDCBM15A, GPR56, TM7LN4, TM7XN1
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.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ADGRG1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools