AGL

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

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green AGL in Glycogen Storage Diseases Level 2: Metabolic disorders Version 1.2 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IIIa and IIIb, MIM# 232400
Green AGL in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease IIIa and IIIb, MIM#232400
Red AGL in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genetic Health Queensland Phenotypes Glycogen storage disease IIIa, MIM# 232400
Green AGL in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Glycogen storage disease IIIa 232400 Glycogen storage disease IIIb 232400
Green AGL in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease IIIa, 232400 (3)
Green AGL in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Glycogen Storage Disorders- Liver Glycogen Storage Disorders- Muscle Glycogen Storage Disease Type III Ketotic hypoglycaemia, hyperlipidaemia, raised transaminases HCM Glycogen storage disease type IIIa (debrancher enzyme deficiency) myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance syndromic HCM Glycogen storage disease type III, Cori (Glycogen storage disorders) Hypertrophic-hypocontractile cardiomyopathy Glycogen storage disease IIIa, 232400 Glycogen Storage Disease Glycogen storage disease IIIb, 232400
Green AGL in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease IIIa
Red AGL in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Glycogen storage disease IIIa, MIM# 232400
Green AGL in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease IIIa, 232400 (3)
Green AGL in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Glycogen storage disease IIIa, MIM#232400 Tags treatable metabolic
Green AGL in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease IIIa, 232400 (3)