ADGRG1

Chr 16AR

adhesion G protein-coupled receptor G1

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

NCBI Gene: 9289ENSG00000205336UniProt: Q9Y653OMIM: 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.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.892 OMIM phenotypes
Clinical Summary— ADGRG1
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Gene-Disease Validity (ClinGen)
bilateral frontoparietal polymicrogyria · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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ClinVar Variants
71 unique Pathogenic / Likely Pathogenic· 161 VUS of 500 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.89LOEUF
pLI 0.000
Z-score 2.07
OE 0.61 (0.43–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.07Z-score
OE missense 1.01 (0.93–1.10)
390 obs / 386.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.61 (0.43–0.89)
0≤0.351.4
Missense OE1.01 (0.93–1.10)
0≤0.61.4
Synonymous OE1.11
0≤1.21.6
LoF obs/exp: 20 / 32.8Missense obs/exp: 390 / 386.2Syn Z: -1.15
Curated Mechanism (G2P)Gene2Phenotype (DDG2P) ↗
definitiveADGRG1-related polymicrogyriaLOFAR

Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.

DN
0.75top 25%
GOF
0.7030th %ile
LOF
0.2580th %ile

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

500 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic37
VUS161
Likely Benign240
Conflicting4
34
Pathogenic
37
Likely Pathogenic
161
VUS
240
Likely Benign
4
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
27
1
6
0
34
Likely Pathogenic
31
2
4
0
37
VUS
5
140
11
5
161
Likely Benign
1
8
117
114
240
Benign
0
0
0
0
0
Conflicting
—4
Total64151138119476

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View 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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients