PGM2L1

Chr 11AR

phosphoglucomutase 2 like 1

Also known as: BM32A, NEDHFS, PMMLP

NCBI Gene: 283209 ENSG00000165434 UniProt: Q6PCE3 OMIM: 611610

PGM2L1 encodes a glucose 1,6-bisphosphate synthase that uses 1,3-bisphosphoglycerate as a phosphate donor with various 1-phosphate sugars as acceptors in glucose metabolism. Mutations cause a neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities that follows autosomal recessive inheritance. The gene shows high constraint against loss-of-function variants (LOEUF 0.498), indicating intolerance to inactivating mutations.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables glucose-1,6-bisphosphate synthase activity. Predicted to be involved in glucose metabolic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalitiesMIM #620191

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.50

LOEUF

LOF

Mechanism· G2P