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Gene

PYGL

glycogen phosphorylase L

Summary

Cytogenetic location
14q22.1
Coordinates
Chromosome 14: 50,905,217–50,944,483 (GRCh38)
Exons
20 exons across 39.3 kb
Protein
847 amino acids
Inheritance
Autosomal recessive
Also known as
GSD6
MANE Select transcript
ENST00000216392.8NM_002863.5
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 report relevant to this gene

  • Glycogen Storage Disease

    • Glycogen Storage Disease Type VIAutosomal recessive

      Caused by variants in PYGL, which usually cause an enlarged liver and mild low blood sugar during fasting in childhood.

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

      Knowing allows avoidance of prolonged fasting and dietary management.

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 PYGL is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where PYGL sits. PYGL and 8 genes near it on chromosome 14, from 50,424,850 to 51,424,849.Chromosome 1414q22.1p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3350.6 Mb50.8 Mb51 Mb51.2 Mb51.4 MbMAP4K5: 50,417,845–50,561,126, reverse strandMAP4K5ATL1: 50,532,509–50,634,017, forward strandATL1SAV1: 50,626,616–50,668,600, reverse strandSAV1NIN: 50,719,763–50,832,038, reverse strandNINABHD12B: 50,872,046–50,904,970, forward strandABHD12BPYGL: 50,905,217–50,944,483, reverse strandPYGLTRIM9: 50,975,254–51,096,084, reverse strandTRIM9TMX1: 51,240,152–51,259,059, forward strandTMX1FRMD6: 51,396,647–51,730,727, forward strandFRMD6Diagram of PYGL: 20 exons on the reverse strand of chromosome 14Exon 20: 2 known disease-causing sitesExon 18: 2 known disease-causing sitesExon 17: 3 known disease-causing sitesExon 16: 3 known disease-causing sitesExon 15: 3 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 12: 3 known disease-causing sitesExon 11: 2 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 8: 2 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 3 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 2: 3 known disease-causing sitesExon 1: 7 known disease-causing sitesExon 20: 50,905,217–50,905,556, 340 basesExon 19: 50,908,271–50,908,337, 67 basesExon 18: 50,908,821–50,908,955, 135 basesExon 17: 50,909,895–50,910,102, 208 basesExon 16: 50,911,730–50,911,871, 142 basesExon 15: 50,911,978–50,912,036, 59 basesExon 14: 50,912,156–50,912,303, 148 basesExon 13: 50,913,029–50,913,130, 102 basesExon 12: 50,914,701–50,914,815, 115 basesExon 11: 50,915,336–50,915,499, 164 basesExon 10: 50,915,825–50,915,971, 147 basesExon 9: 50,916,642–50,916,734, 93 basesExon 8: 50,916,962–50,917,105, 144 basesExon 7: 50,920,541–50,920,623, 83 basesExon 6: 50,920,956–50,921,067, 112 basesExon 5: 50,923,969–50,924,100, 132 basesExon 4: 50,931,673–50,931,776, 104 basesExon 3: 50,935,107–50,935,185, 79 basesExon 2: 50,937,736–50,937,837, 102 basesExon 1: 50,944,161–50,944,483, 323 bases201510515′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 2.8 kb of the gene's 39.3 kb; 2,544 of those bases code for the protein.

How a genome test reads PYGL

60

positions in PYGL 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 39.3 kb of PYGL, introns included, not only the 2.8 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.). PYGL gene: glycogen phosphorylase L. Retrieved 16 October 2026, from https://dantelabs.com/genes/pygl

Vancouver

Dante Labs. PYGL gene: glycogen phosphorylase L [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pygl

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