AGL

amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
OMIM: 610860, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green AGL 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 myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance Glycogen storage disease IIIa, 232400 Glycogen storage disease IIIb, 232400 Glycogen Storage Disease Type III Glycogen Storage Disorders- Liver Glycogen Storage Disorders- Muscle Glycogen Storage Disease
Red AGL in Hyperammonaemia Level 3: Urea Cycle disorders Level 2: Metabolic disorders Version 1.22	review	Not set	Sources Emory Genetics Laboratory
Green AGL in Rhabdomyolysis and metabolic muscle disorders Level 2: Neurology Version 5.17 Latest signed off version: v5.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Radboud University Medical Center, Nijmegen UKGTN Phenotypes Glycogen storage disease IIIa 232400 Glycogen storage disease IIIb 232400
Green AGL 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 IIIb, 232400 Glycogen storage disease IIIa, 232400
Red AGL in Hypertrophic cardiomyopathy Level 2: Cardiology Version 5.29 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Sudden unexplained death or survivors of a cardiac event Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH Expert list Phenotypes syndromic HCM
Red AGL in Arthrogryposis Level 2: Neurology Version 9.32 Latest signed off version: v9.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red Expert list
Red AGL in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Level 2: Neurology Version 5.41 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Yorkshire and North East GLH Expert Review Phenotypes Glycogen storage disease IIIb, 232400 Glycogen storage disease IIIc, 232400
Green AGL in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Glycogen storage disease type III, Cori (Glycogen storage disorders) myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance Glycogen storage disease IIIa, 232400 Glycogen storage disease IIIb, 232400 Glycogen Storage Disease Type III Glycogen Storage Disorders- Liver Glycogen Storage Disorders- Muscle Glycogen Storage Disease
Green AGL in Likely inborn error of metabolism Level 2: Metabolic Version 8.107 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 type III, Cori (Glycogen storage disorders) Glycogen storage disease IIIb, 232400 Glycogen Storage Disorders- Liver Glycogen Storage Disease myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance Glycogen Storage Disease Type III Glycogen Storage Disorders- Muscle Glycogen storage disease IIIa, 232400
Green AGL in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.185 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes GLYCOGEN STORAGE DISEASE TYPE III
Green AGL in DDG2P Version 6.447 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 III 232400
Red AGL in Intellectual disability Level 2: Developmental disorders Version 9.370 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 IIIa, 232400 Glycogen storage disease IIIb, 232400
Amber AGL in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 7.99 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS MetBioNet MetBioNet Phenotypes Hypertrophic-hypocontractile cardiomyopathy Glycogen storage disease type IIIa (debrancher enzyme deficiency) syndromic HCM Glycogen storage disease IIIb, 232400 myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases Glycogen Storage Disease Glycogen Storage Disease Type III Glycogen storage disease IIIa, 232400 Glycogen Storage Disorders- Liver Glycogen Storage Disorders- Muscle Glycogen storage disease type III, Cori (Glycogen storage disorders) HCM
Red AGL in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.20 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green AGL in Acute rhabdomyolysis Level 2: Neurology Version 2.8 Latest signed off version: v2.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Glycogen storage disease IIIb, OMIM:232400 Glycogen storage disease IIIa, OMIM:232400