Ketotic hypoglycaemia

Gene: PYGL

Green List (high evidence)

PYGL (glycogen phosphorylase L)
EnsemblGeneIds (GRCh38): ENSG00000100504
EnsemblGeneIds (GRCh37): ENSG00000100504
OMIM: 613741, Gene2Phenotype
PYGL is in 10 panels

1 review

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • hepatomegaly and mild hypoglycaemia
  • Glycogen storage disease VI, 232700
  • Glycogen Storage Disease Type VI
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disease
OMIM
613741
Clinvar variants
Variants in PYGL
Penetrance
Complete
Panels with this gene

History Filter Activity

6 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2015, Gel status: 4

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

PYGL was added to Ketotic hypoglycaemiapanel. Sources: Literature