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  2. Liver Failure_Paediatric
  3. PYGL
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Liver Failure_Paediatric

Gene: PYGL

Green List (high evidence)
PYGL (glycogen phosphorylase L)
EnsemblGeneIds (GRCh38): ENSG00000100504
EnsemblGeneIds (GRCh37): ENSG00000100504
OMIM: 613741, Gene2Phenotype
PYGL is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Progression to cirrhosis reported.
Sources: Literature
Created: 6 Mar 2021, 6:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease VI, MIM# 232700

Publications

Created: 6 Mar 2021, 6:54 a.m.

Panel version: 1.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Glycogen storage disease VI, MIM# 232700
OMIM
613741
Clinvar variants
Variants in PYGL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pygl has been classified as Green List (High Evidence).

6 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pygl has been classified as Green List (High Evidence).

6 Mar 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PYGL was added gene: PYGL was added to Liver Failure_Paediatric. Sources: Literature Mode of inheritance for gene: PYGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PYGL were set to 32892177 Phenotypes for gene: PYGL were set to Glycogen storage disease VI, MIM# 232700 Review for gene: PYGL was set to GREEN