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Mendeliome

Gene: PYGL

Green List (high evidence)

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Classified as Definitive by ClinGen General Inborn Errors of Metabolism GCEP on 27/09/2024 - https://search.clinicalgenome.org/CCID:008478
LoF is the mechanism of disease.
Created: 12 Nov 2024, 1:27 a.m. | Last Modified: 12 Nov 2024, 1:27 a.m.
Panel Version: 1.2135

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
glycogen storage disease VI MONDO:0009294

Publications

  • https://search.clinicalgenome.org/CCID:008478

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene disease association.
Created: 6 Mar 2021, 6:52 a.m. | Last Modified: 6 Mar 2021, 6:52 a.m.
Panel Version: 0.6614

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease VI, MIM# 232700

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PYGL were changed from to Glycogen storage disease VI, MIM# 232700

6 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PYGL were set to

6 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PYGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PYGL was added gene: PYGL was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PYGL was set to Unknown