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Gene

PGM1

phosphoglucomutase 1

Summary

Cytogenetic location
1p31.3
Coordinates
Chromosome 1: 63,593,411–63,660,245 (GRCh38)
Exons
11 exons across 66.8 kb
Protein
562 amino acids
Inheritance
Autosomal recessive
MANE Select transcript
ENST00000371084.8NM_002633.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Dilated Cardiomyopathy

    • Enlargement and weakening of the left ventricle not explained by coronary artery or valve disease; inherited forms involve TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN and many other genes, and include Barth syndrome and the Emery-Dreifuss muscular dystrophies.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing a genetic cause supports earlier heart monitoring and family screening, and for genes with a high arrhythmia risk such as LMNA, FLNC and RBM20 it informs decisions about rhythm monitoring and implantable defibrillators.

  • Congenital Disorders of Glycosylation

    • PGM1-CDG (Phosphoglucomutase 1 Deficiency)Autosomal recessive

      A congenital disorder of glycosylation caused by variants in PGM1, with cleft palate, low blood sugar, liver problems, muscle weakness and in some people heart muscle disease.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong
      What knowing changes

      Oral galactose supplements can improve blood sugar, liver tests and clotting.

    • Congenital Disorders of Glycosylation (CDG)

      One of 98 genes linked to it

      A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.

      • ClinGen rates the link definitive
      • 6 GenCC submitters rate it definitive or strong

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How PGM1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where PGM1 sits. PGM1 and 5 genes near it on chromosome 1, from 63,126,828 to 64,126,827.Chromosome 11p31.3p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4463.2 Mb63.4 Mb63.6 Mb63.8 Mb64 MbITGB3BP: 63,320,884–63,593,721, reverse strandITGB3BPALG6: 63,321,730–63,440,448, forward strandALG6FOXD3: 63,322,567–63,325,128, forward strandFOXD3EFCAB7: 63,523,317–63,572,693, forward strandEFCAB7PGM1: 63,593,411–63,660,245, forward strandPGM1ROR1: 63,773,987–64,181,625, forward strandROR1Diagram of PGM1: 11 exons on the forward strand of chromosome 1Exon 1: 8 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 2 known disease-causing sitesExon 4: 2 known disease-causing sitesExon 5: 5 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 10: 8 known disease-causing sitesExon 1: 63,593,411–63,593,734, 324 basesExon 2: 63,629,425–63,629,587, 163 basesExon 3: 63,629,942–63,630,088, 147 basesExon 4: 63,631,657–63,631,782, 126 basesExon 5: 63,634,829–63,635,019, 191 basesExon 6: 63,636,234–63,636,388, 155 basesExon 7: 63,638,685–63,638,800, 116 basesExon 8: 63,648,517–63,648,652, 136 basesExon 9: 63,651,669–63,651,852, 184 basesExon 10: 63,654,332–63,654,466, 135 basesExon 11: 63,659,586–63,660,245, 660 bases1246810115′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 2.3 kb of the gene's 66.8 kb; 1,689 of those bases code for the protein.

How a genome test reads PGM1

39

positions in PGM1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 66.8 kb of PGM1, introns included, not only the 2.3 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PGM1 gene: phosphoglucomutase 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/pgm1

Vancouver

Dante Labs. PGM1 gene: phosphoglucomutase 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pgm1

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