PGM1
Chr 1ARphosphoglucomutase 1
Also known as: CDG1T, GSD14
Phosphoglucomutase 1 catalyzes the reversible conversion of glucose 1-phosphate to glucose 6-phosphate, participating in both glucose breakdown and synthesis and representing about 90% of total phosphoglucomutase activity in most cell types. Mutations cause congenital disorder of glycosylation type It, which is inherited in an autosomal recessive pattern. This gene shows tolerance to loss-of-function variants (LOEUF 1.319), suggesting that complete loss of function may be compatible with survival when biallelic mutations occur.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
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
500 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 15 | 0 | 20 | 0 | 35 |
Likely Pathogenic | 3 | 5 | 6 | 0 | 14 |
VUS | 0 | 162 | 26 | 3 | 191 |
Likely Benign | 1 | 1 | 76 | 104 | 182 |
Benign | 0 | 1 | 45 | 1 | 47 |
Conflicting | — | 12 | |||
| Total | 19 | 169 | 173 | 108 | 481 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PGM1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools