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Inborn errors of metabolism

Gene: PYGL

Green List (high evidence)

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

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • 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)
OMIM
613741
Clinvar variants
Variants in PYGL
Penetrance
None
Publications
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)