PGM2L1
Chr 11ARphosphoglucomutase 2 like 1
Also known as: BM32A, NEDHFS, PMMLP
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PGM2L1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools