PMM2

Chr 16

phosphomannomutase 2

Also known as: CDG1, CDG1a, CDGS, PMI, PMI1, PMM 2

NCBI Gene: 5373ENSG00000140650UniProt: O15305

The protein encoded by this gene catalyzes the isomerization of mannose 6-phosphate to mannose 1-phosphate, which is a precursor to GDP-mannose necessary for the synthesis of dolichol-P-oligosaccharides. Mutations in this gene have been shown to cause defects in glycoprotein biosynthesis, which manifests as carbohydrate-deficient glycoprotein syndrome type I. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 1A

Clinical highlights

Gene-disease validity (ClinGen)
hyperinsulinemic hypoglycemia with polycystic kidney disease · ARModerateconsider for supplementary testing2 gene-disease associations curated in total
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
53
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.88
LOEUF
LOF
Mechanism· G2P
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GeneReview available — PMM2
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.88LOEUF
pLI 0.000
Z-score -1.51
OE 1.41 (1.00–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.39Z-score
OE missense 1.33 (1.18–1.50)
186 obs / 139.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.41 (1.00–1.88)
0≤0.351.4
Missense OE?1.33 (1.18–1.50)
0≤0.61.4
Synonymous OE?1.21
0≤1.21.6
LoF obs/exp: 22 / 15.6Missense obs/exp: 186 / 139.8Syn Z: -1.24

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PMM2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients