POMGNT1

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

2 disorders 1 untyped 1 no genetic record 1p34.1 gene with protein product

HGNC:19139 Monarch NCBI Gene 55624 ENSG00000085998 UniProt Q8WZA1 OMIM 606822

Previous symbols: MEB. Aliases: FLJ20277, MGAT1.2, LGMD2O.

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
Dystroglycanopathy	untyped Causative	mechanism: Defective alpha-dystroglycan O-mannosyl glycosylation subtype: MDDG3 (POMGNT1)
Lissencephaly Spectrum Disorders	no genetic record	mechanism: Neuronal Overmigration Across the Pial Boundary subtype: Cobblestone

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 POMGNT1 MONDO:0700068	AR	Definitive 2024-08-14	no dismech entry

Mechanism modules · computed from kb/

pial_basement_membrane_radial_glial_endfoot_failure via Dystroglycanopathy, Lissencephaly Spectrum Disorders named in the module itself

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