GYG1

glycogenin 1

2 disorders 1 untyped 1 causative 3q24 gene with protein product

HGNC:4699 Monarch NCBI Gene 2992 ENSG00000163754 UniProt P46976 OMIM 603942

Previous symbols: GYG.

Normal function · from ai-gene-review (P46976, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status INITIALIZED; 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
GYG1-Related Disorder of Glycogen Metabolism	causative	mechanism: Impaired Glycogenin-1 Autoglucosylation
Glycogen Storage Disease XV	untyped Causative	mechanism: GYG1 deficiency and failed glycogen synthesis initiation diagnosis: Molecular genetic testing

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
polyglucosan body myopathy type 2 MONDO:0014526	AR	Definitive 2023-03-24	GYG1-Related Disorder of Glycogen Metabolism causative

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