GAA

alpha glucosidase
OMIM: 606800, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green GAA in Glycogen Storage Diseases Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease II (MIM#232300) MONDO:0009290
Red GAA in Hypertrophic cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Glycogen storage disease II, MIM#232300
Green GAA in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease II, MIM# 232300 MONDO:0009290
Green GAA in Lysosomal Storage Disorder Level 2: Metabolic conditions Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glycogen storage disease II, MIM# 232300 MONDO:0009290
Green GAA in Additional findings_Adult Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glycogen storage disease II 232300 Pompe disease
Green GAA in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Glycogen storage disease II 232300
Green GAA in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Glycogen storage disease II (MIM#232300)
Green GAA in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease II, 232300 (3)
Green GAA in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources South West GLH NHS GMS Expert Review Green MetBioNet London South GLH Phenotypes HCM, mixed Glycogen storage disease II, 232300 syndromic HCM Hypotonia, muscle weakness, progressive respiratory failure Glycogen storage disease type II (Pompe disease)
Green GAA in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease II
Green GAA in Fetal anomalies Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Glycogen storage disease II MIM#232300
Green GAA in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease II (Pompe disease), 232300
Green GAA in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category A gene BeginNGS Phenotypes Glycogen storage disease II, Pompe disease, MIM# 232300 Tags treatable metabolic
Green GAA in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Glycogen storage disease II, MIM#232300