PYGL

glycogen phosphorylase L
OMIM: 613741, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green PYGL in Ketotic hypoglycaemia Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.10	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Literature Phenotypes hepatomegaly and mild hypoglycaemia Glycogen storage disease VI, 232700 Glycogen Storage Disease Type VI Glycogen Storage Disorders- Liver Glycogen Storage Disease
Red PYGL in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Green PYGL in Glycogen storage disease Level 2: Metabolic Version 2.6 Latest signed off version: v2.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH London North GLH Expert Review Green Phenotypes Glycogen storage disease VI 232700
Green PYGL in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.642	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycogen storage disease type VI, Hers (Glycogen storage disorders) hepatomegaly and mild hypoglycaemia Glycogen storage disease VI, 232700 Glycogen Storage Disease Type VI Glycogen Storage Disorders- Liver Glycogen Storage Disease
Green PYGL in Likely inborn error of metabolism Level 2: Metabolic Version 8.91 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green 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)
Red PYGL in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Glycogen storage disease VI GLYCOGEN STORAGE DISEASE TYPE VI
Green PYGL in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOGEN STORAGE DISEASE TYPE VI 232700
Red PYGL in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Glycogen storage disease VI, 232700
Red PYGL in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH