AGRN

agrin

2 disorders 1 susceptibility 1 untyped 1p36.33 gene with protein product

HGNC:329 Monarch NCBI Gene 375790 ENSG00000188157 UniProt O00468 OMIM 103320

Previous symbols: AGRIN.

Normal function · from ai-gene-review (O00468, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Adult-Onset Myasthenia Gravis	susceptibility
Congenital Myasthenic Syndrome	untyped Causal	mechanism: Postsynaptic AChR Deficiency, Kinetic Defect, and Impaired Clustering subtype: CMS8 scoped to subtype: CMS8

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
congenital myasthenic syndrome 8 MONDO:0014052	AR	Definitive 2025-08-25	Congenital Myasthenic Syndrome untyped

Mechanism modules · computed from kb/

neuromuscular_transmission_failure via Congenital Myasthenic Syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.