Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: PYGL

Green List (high evidence)

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

0 reviews


Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • London North GLH
  • Expert Review Green
  • Glycogen Storage Disease
  • Glycogen Storage Disorders- Liver
  • Glycogen storage disease VI, 232700
  • hepatomegaly and mild hypoglycaemia
  • Glycogen Storage Disease Type VI
  • Glycogen storage disease type VI, Hers (Glycogen storage disorders)
Clinvar variants
Variants in PYGL
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PYGL. Source London North GLH was added to PYGL.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PYGL was added gene: PYGL was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGL were set to 27604308 Phenotypes for gene: PYGL were set to Glycogen Storage Disease; Glycogen Storage Disorders- Liver; Glycogen storage disease VI, 232700; hepatomegaly and mild hypoglycaemia; Glycogen Storage Disease Type VI; Glycogen storage disease type VI, Hers (Glycogen storage disorders)