GMPPB

GDP-mannose pyrophosphorylase B

2 disorders 2 untyped 3p21.31 gene with protein product

HGNC:22932 Monarch NCBI Gene 29925 ENSG00000173540 UniProt Q9Y5P6 OMIM 615320

Aliases: KIAA1851.

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
Congenital Myasthenic Syndrome	untyped Causal	mechanism: NMJ Glycoprotein Glycosylation Defect scoped to subtype: Glycosylation
Dystroglycanopathy	untyped Causative	mechanism: Defective alpha-dystroglycan O-mannosyl glycosylation subtype: MDDG14 (GMPPB)

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
myopathy caused by variation in GMPPB MONDO:0700084	AR	Definitive 2024-08-13	no dismech entry

Mechanism modules · computed from kb/

pial_basement_membrane_radial_glial_endfoot_failure via Dystroglycanopathy

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