Table 1.
List of 54 genes present in the NGS panel, divided into groups based on their function and associated diseases.
| (A) Disorders of fatty acid oxidation/lipid metabolism | |||
| Gene | Protein | Inheritance | Disease |
| ACADM | Medium-chain acyl-CoA Dehydrogenase | AR | Deficiency of medium chain acyl-CoA dehydrogenase |
| ACADS | Short-chain acyl-CoA Dehydrogenase | AR | Deficiency of short chain acyl-CoA dehydrogenase |
| ACADVL | Very-long-chain acyl-CoA dehydrogenase | AR | Deficiency of very-long-chain acyl-CoA dehydrogenase |
| CPT2 | Carnitine palmitoyl-transferase II | AR | Deficiency of Carnitine palmitoyl-transferase 2 |
| ETFA | Electron transfer flavoprotein-asubunits | AR | Multiple acyl-coenzyme A dehydrogenase deficiency-Glutaric aciduria type IIA |
| ETFB | Electron transfer flavoprotein-bsubunits | AR | Multiple acyl-coenzyme A dehydrogenase deficiency-Glutaric aciduria type IIB |
| ETFDH | Electron transfer flavoprotein: ubiquinone oxidoreductase | AR | Multiple acyl-coenzyme A dehydrogenase deficiency-Glutaric aciduria IIC |
| FLAD1 | Flavin adenine dinucleotide synthetase | AR | Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency |
| HADHA | Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase, alpha subunit | AR | Mitochondrial trifunctional protein deficiency |
| HADHB | Hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase, beta subunit | AR | Mitochondrial trifunctional protein deficiency |
| PNPLA2 | Adipose Triglyceride lipase | AR | Neutral lipid storage disease |
| SLC22A5 | Organic cation transporter 2 | AR | Carnitine deficiency, systemic primary |
| (B) Disorders of glycogen metabolism | |||
| Gene | Protein | Inheritance | Disease |
| AGL | Amylo-1,6-Glucosidase, 4-Alpha-Glucanotransferase | AR | Glycogen storage disease IIIa/IIIb, glycogen debrancher enzyme |
| ALDOA | Fructose-1,6-bisphosphate aldolase | AR | Glycogen storage disease XII |
| ENO3 | Enolase b | AR | Glycogen storage disease XIII |
| G6PC | Glucose-6-phosphatase (G6Pase) | AR | Glycogen storage disease Ia |
| GAA | Acid Alpha-1,4-Glucosidase (Acid maltase) | AR | Glycogen storage disease II |
| GBE1 | 1,4-Alpha-Glucan Branching Enzyme Amylo-(1,4 to 1,6) Transglucosidase Amylo-(1,4 to 1,6) Transglycosylase |
AR | Glycogen storage disease IV, Polyglucosan body disease (adult form) |
| GYG1 | Glycogenin-1 (glycosyltransferase) | AR | Glycogen storage disease XV, Polyglucosan body myopathy 2 |
| GYS1 | Glycogen synthase (mucle) | AR | Glycogen storage disease 0 |
| GYS2 | Glycogen synthase (liver) | AR | Glycogen storage disease 0 |
| LDHA | Lactate dehydrogenase (muscle, A subunit) | AR | Glycogen storage disease XI |
| PFKM | Phosphofructokinase (muscle) | AR | Glycogen storage disease VII, Tarui disease |
| PYGB | Glycogen phosphorylase (brain) | AR | Glucogen storage disease V |
| PYGL | Glycogen phosphorylase (liver) | AR | Glycogen storage disease VI |
| PYGM | Glycogen phosphorylase (muscle) | AR | Glycogen storage disease V, McArdle disease |
| PGAM2 | Phosphoglycerate mutase-2 (mucle) | AR | Glycogen storage disease X |
| PGK1 | Phosphoglycerate kinase-1 | X-linked | Phosphoglycerate kinase 1 deficiency |
| PGM1 | Phosphoglucomutase-1 | AR | Congenital disorder of glycosylation, type 1t Glycogen storage disease XIV |
| PHKA1 | Phosphorylase kinase-a1 (muscle) | X-linked | Glycogen storage disease IXd |
| PHKA2 | Phosphorylase kinase-a2 (liver) | X-linked | Glycogen storage disease IXa2 |
| PHKB | Phosphorylase kinase-b | AR | Glycogen storage disease IXb |
| PHKG2 | Phosphorylase kinase-g (liver, testis) | AR | Glycogen storage disease IXc |
| PRKAG2 | Noncatalytic gamma subunit of AMP-activated protein kinase | AD | Glycogen storage disease of heart, lethal congenital |
| SLC2A2 | Glucose transporter-like (GLUT2) | AR | Fanconi-Bickel syndrome - Glycogen storage disease XI |
| SLC37A4 | Glucose-6-PhosphateTransporter 1 | AR | Glycogen storage disease Ib-Ic |
| (C) Mitochondrial functions | |||
| Gene | Protein | Inheritance | Disease |
| ATP5D | Mitochondrial ATP synthase F1 complex-delta subunit | AR | Mitochondrial complex V (ATP synthase) deficiency |
| DGUOK | Mitochondrial deoxyguanosine kinase | AR | Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) |
| FDX1L | Ferredoxin 1-like ptotein | AR | Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy |
| ISCU | Iron-sulfur (Fe-S) clusters scaffold protein | AR | Iron-sulphur cluster deficiency myopathy (mitochondrial disorder) |
| HSD17B10 | 2-methyl-3-hydroxybutyryl Co-A dehydrogenase | X-linked | Neurodegenerative disorder, chorioathetosis with mental retardation and abnormal behavior |
| LPIN1 | Phosphatidic acid phosphohydrolase 1 | AR | Phosphatidic acid phosphatase deficiency |
| POLG | Polymerase gamma | AR/AD | Mitochondrial DNA depletion syndrome Progressive external ophthalmoplegia |
| (D) Muscular dystrophies/congenital myopathies | |||
| Gene | Protein | Inheritance | Disease |
| ANO5 | Transmembrane protein 16E Anoctamin 5 | AR | Miyoshi muscular dystrophy 3 Muscular dystrophy, limb-girdle, autosomal recessive 12 |
| CACNA1S | Calcium channel | AD | Malignant hyperthermia susceptibility 5 Thyrotoxic periodic paralysis Hypokalemic periodic paralysis, type 1 |
| CAV3 | Caveolin-3 | AD | Myopathy, distal, Tateyama type |
| CHKB | Choline kinase | AR | Muscular dystrophy, congenital, megaconial type |
| DMD | Dystrophin | X-linked | Duchenne muscular dystrophy, Becker muscular dystrophy |
| DYSF | Dysferlin | AR | LGMD2B, Miyoshi myopathy |
| FKRP | Fukutin-related protein | AR | LGMD2I |
| FKTN | Fukutin | AR | Fukuyama congenital muscular dystrophy |
| RBCK1 | RANBP-Type and C3HC4-Type Zinc Finger-Containing 1 | AR | Polyglucosan body myopathy 1 with or without immunodeficiency |
| SIL1 | Nucleotide Exchange Factor | AR | Marinesco-Sjogren syndrome |
| (E) Disorders of intramuscular calcium release and excitation-contraction coupling | |||
| Gene | Protein | Inheritance | Disease |
| RYR1 | Skeletal muscle ryanodine receptor 1 | AD/AR | Malignant hyperthermia-susceptibility, Exertional rhabdomyolysis, Congenital myopathy |
AD: autosomal dominant; AR: autosomal recessive.