PGM2L1 Chromosome 11
Phosphoglucomutase 2 like 1
Upload your DNA to see your personal genotypes for variants in PGM2L1.
What This Gene Does
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]
Associated Conditions (4)
Neurodevelopmental disorder with hypotonia
dysmorphic facies
and skin abnormalities
Inborn genetic diseases
Key Variants
RS1452899724
Pathogenic
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
Health Risk
RS2134888290
Pathogenic
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
Health Risk
RS2134963520
Pathogenic
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
Health Risk
RS2495896900
Pathogenic
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
Health Risk
RS2495900037
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2495905933
Pathogenic
Health Risk
RS2496013240
Pathogenic
Health Risk
RS767118518
Pathogenic
Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1452899724 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities |
| RS2134888290 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities |
| RS2134963520 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities |
| RS2495896900 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities |
| RS2495900037 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2495905933 | Health Risk | Pathogenic | — |
| RS2496013240 | Health Risk | Pathogenic | — |
| RS767118518 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities |