devACT® Panel – Gene List by Gene Gene AASS ABAT ABCD1 ABCD3 ABCD4 ACAD8 ACAD9 ACADM ACADS ACADVL ACAT1 ACOX1 ADCK3 ADSL AGA ALDH3A2 ALDH5A1 ALDH7A1 ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 AMN AMT APTX ARG1 ARSA ARSB ASAH1 ASL ASPA ASS1 ATP13A2 ATP7A ATP7B AUH B4GALT1 BCKDHA BCKDHB
Disease Association Alpha-aminoadipic acid semialdehyde dehydrogenase deficiency GABA-transaminase deficiency Adrenoleukodystrophy Zellweger syndrome 2 Methylmalonic acidemia and homocystinuria type CblJ Isobutyryl-CoA dehydrogenase deficiency Mitochondrial complex I deficiency Medium chain acyl-CoA dehydrogenase deficiency (MCAD) Short chain acyl-CoA dehydrogenase (SCAD) deficiency Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) Acetoacetyl-CoA-thiolase deficiency (ketothiolase deficiency) Peroxisomal acyl-CoA oxidase deficiency (pseudoneonatal adrenoleukodystrophy) Coenzyme Q10 deficiency Adenylosuccinate lyase (ADSL) deficiency, adenylosuccinase deficiency, autistic spectrum disorder, succinylpurinemic autism Lysosomal storage disease aspartylglycosaminuria Sjogren-Larsson syndrome Succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) Pyridoxine dependent epilepsy Congenital disorder of glycosylation 1k Congenital disorder of glycosylation 1p Congenital disorder of glycosylation 1g Congenital disorder of glycosylation 1s Congenital disorder of glycosylation 1i Congenital disorder of glycosylation 1d Congenital disorder of glycosylation 1c Congenital disorder of glycosylation 1h Congenital disorder of glycosylation 1L Megaloblastic anemia due to inborn errors of metabolism Glycine encephalopathy (non-ketotic hyperglycinemia) Ataxia-Oculomotor Apraxia Arginase deficiency Metachromatic leukodystrophy Mucopolysaccharidosis type 6 (MPS 6) Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsy Spinal muscular atrophy with progressive myoclonic epilepsy Canavan disease Citrullinemia - Several forms: acute neonatal, milder later onset, pregnancy/postpartum in women, asymptomatic Neuronal ceroid lipofuscinosis 12 (CLN 12) - Juvenile NCL Menkes disease - classic and mild forms Wilson disease 3-methylglutaconic aciduria type I (MCGA1) disorder Congenital disorder of glycosylation IId Maple syrup urine disease type 1a Maple syrup urine disease type 1b
Category Neurotransmitter disorders Neurotransmitter disorders Peroxisomal disorder Peroxisomal disorder Organic acidemia Organic acidemia Mitochondria-related disorder Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Organic acidemia Peroxisomal disorder Coenzyme Q10 deficiency Purine/pyrimidine metabolism Lysosomal storage disorder Lipid metabolism disorder Neurotransmitter disorders Cofactor disorder Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Cofactor disorder Amino acid disorder Coenzyme Q10 deficiency Urea cycle disorders Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Urea cycle disorders Leukodystrophy Urea cycle disorders Neuronal ceroid lipofuscinosis Copper metabolism disorder Copper metabolism disorder Organic acidemia Congenital disorder of glycosylation Organic acidemia Organic acidemia
Courtagen Life Sciences Inc. 12 Gill Street • Suite 3700 • Woburn, MA 01801 877-395-7608 Fax: 617-892-7191 www.courtagen.com MKT-00131 08/2016
devACT® Panel – Gene List
Gene BCKDK
CTSF CUBN CYP27A1 DBH DBT DDC DDOST DHCR7 DHDDS DHFR DLAT DLD DNAJC5 DOLK DPAGT1 DPM1 DPM2 DPM3 DPYD EIF2B1
Disease Association Branched-chain ketoacid dehydrogenase kinase deficiency (2-methylbutarylCoA dehydrogenase deficiency, SBCADD) Biotinidase deficiency Epilepsy, childhood absence, 6; epilepsy, idopathic generalized, 6 Homocystinuria, B6-responsive and nonresponsive types; thrombosis, hyperhomocysteinemia Myasthenic syndrome, congenital, associated with episodic apnea Wolfram syndrome 2 Neuronal ceroid lipofuscinosis 3 (CLN 3) - Classic juvenile NCL ("SpielmeyerSjögren"), adult NCL (Kufs disease) Neuronal ceroid lipofuscinosis 5 (CLN 5) - Late infantile NCL ("Finnish variant"), Juvenile NCL, Adult NCL (Kufs disease) Neuronal ceroid lipofuscinosis 6 (CLN 6) - Late infantile NCL ("LakeCavanagh or Indian variant"), adult NCL (Kufs disease type A) Neuronal ceroid lipofuscinosis 8 (CLN 8) - Late infantile NCL, Northern epilepsy (progressive epilepsy with mental retardation or EPMR) Congenital disorder of glycosylation IIg Congenital disorder of glycosylation IIj Congenital disorders of glycosylation IIi Congenital disorder of glycosylation IIL Congenital disorder of glycosylation IIe Congenital disorder of glycosylation IIh Coenzyme Q10 deficiency; COQ2 nephropathy Autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency. Deficiency of ferroxidase (aceruloplasminemia) Carbamoylphosphate synthetase 1 deficiency, hyperammonemia Carnitine palmitoyltransferase 1 deficiency - Hepatic encephalopathy form, adult myopathy form, or acute fatty liver of pregnancy form Carnitine palmitoyltransferase 2 deficiency - Lethal neonatal form, severe infantile hepatocardiomuscular form, or myopathic form Cystinosis Galactosialidosis Neuronal ceroid lipofuscinosis 10 (CLN 10) - Congenital NCL, Late-infantile NCL, or Teenage-/adult-onset NCL Neuronal ceroid lipofuscinosis 13 (CLN 13) - Adult NCL (Kufs disease type B) Megaloblastic anemia due to inborn errors of metabolism Cerebrotendinous xanthomatosis Dopamine beta-hydroxylase deficiency Maple syrup urine disease type 2 aromatic l-amino acid decarboxylase deficiency Congenital Disorders of Glycosylation-1r Smith-Lemli-Opitz syndrome Congenital Disorders of Glycosylation Megaloblastic anemia due to dihydrofolate reductase deficiency Pyruvate dehydrogenase E2 deficiency Dihydrolipoamide dehydrogenase deficiency Neuronal ceroid lipofuscinosis 4 (CLN 4) - Adult NCL (Parry disease) Congenital disorder of glycosylation, Cardiomyopathy, dilated Congenital disorder of glycosylation 1j Congenital disorder of glycosylation 1e Congenital Disorders of Glycosylation Alpha-dystroglycanopathy Dihydropyrimidine dehyrogenase deficiency Leukodystrophy vanishing white matter
EIF2B2
Leukodystrophy vanishing white matter
EIF2B3
Leukodystrophy vanishing white matter
BTD CACNA1H CBS CHAT CISD2 CLN3 CLN5 CLN6 CLN8 COG1 COG4 COG5 COG6 COG7 COG8 COQ2 COQ9 CP CPS1 CPT1A CPT2 CTNS CTSA CTSD
Page 2 of 12
Category Organic acidemia Cofactor disorder Brain malformation and seizure disorders Cofactor disorder Neurotransmitter disorders Mitochondria-related disorder Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Coenzyme Q10 deficiency Mitochondria-related disorder Copper metabolism disorder Urea cycle disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Lysosomal storage disorder Lysosomal storage disorder Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Congenital disorder of glycosylation Brain malformation and seizure disorders Neurotransmitter disorders Organic acidemia Neurotransmitter disorders Congenital disorder of glycosylation Lipid metabolism disorder Congenital disorder of glycosylation Folate metabolism Mitochondria-related disorder Mitochondria-related disorder Neuronal ceroid lipofuscinosis Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Purine/pyrimidine metabolism Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter
devACT® Panel – Gene List
Gene EIF2B4
Disease Association Leukodystrophy vanishing white matter
EIF2B5
Leukodystrophy vanishing white matter
ETFA ETFB ETFDH ETHE1 FKRP
Glutaric Acidemia IIA (Multiple Acyl-CoA Dehydrogenase Deficiency) Glutaric acidemia IIB Glutaric acidemia IIC Encephalopathy, ethylmalonic Muscular dystrophy-dystroglycanopathy (MDDG): a severe congenital form with brain and eye anomalies (type A5; MDDGA5), formerly designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB); a less severe congenital form with or without mental retardation (type B5; MDDGB5); and a milder limb-girdle form (type C5; MDDGC5), previously designated LGMD2I. Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Neurodegeneration due to cerebral folate transport deficiency Potential disorder folate metabolism Potential disorder of folate metabolism Glutamate formiminotransferase deficiency Fucosidosis Pompe disease Krabbe disease Mucopolysaccharidosis type IV-A (MPS 4A); Morquio syndrome cerebral creatine deficiency syndrome 2 cerebral creatine deficiency syndrome 3 Glutaric acidemia I GTP cyclohydrolase deficiency (Hyperphenylalaninemia, BH4-deficient, B) Glycine encephalopathy (non-ketotic hyperglycinemia) Alexander disease Intrinsic factor deficiency Glycerol kinase deficiency Fabry disease GM1 gangliosidosis Glycine encephalopathy (non-ketotic hyperglycinemia) Hyperinsulinism-hyperammonemia syndrome GM2 gangliosidoses type AB Congenital disorder of glycosylation Sialuria; autosomal recessive inclusion body myopathy; Nonaka myopathy Rhizomelic chondrodysplasia punctata type II - a peroxisomal disorder Mucolipidoses II (I-cell disease) & III (pseudo-Hurler polydystrophy) Mucolipidosis III gamma Mucopolysaccharidosis type IIID, Sanfilippo syndrome D Neuronal ceroid lipofuscinosis 11 (CLN 11) - Adult NCL (Kufs disease) Mucopolysaccharidosis VII 3-hydroxyacyl-CoA dehydrogenase deficiency; Hypoglycemia, hyperinsulinemic Long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD); trifunctional protein deficiency Long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD); trifunctional protein deficiency Tay-Sachs disease (GM2 gangliosidosis B) Sandhoff disease (GM2 gangliosidosis type O) Mucopolysaccharidosis type IIIC (Sanfilippo C) Holocarboxylase synthetase deficiency HMG-CoA lyase deficiency HMG-CoA synthase-2 deficiency HPRT-related gout; Lesch-Nyhan syndrome
FKTN FOLR1 FOLR2 FPGS FTCD FUCA1 GAA GALC GALNS GAMT GATM GCDH GCH1 GCSH GFAP GIF GK GLA GLB1 GLDC GLUD1 GM2A GMPPA GNE GNPAT GNPTAB GNPTG GNS GRN GUSB HADH HADHA HADHB HEXA HEXB HGSNAT HLCS HMGCL HMGCS2 HPRT1
Page 3 of 12
Category Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Organic acidemia Congenital disorder of glycosylation
Congenital disorder of glycosylation Folate metabolism Folate metabolism Folate metabolism Folate metabolism Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Creatine metabolism Creatine metabolism Organic acidemia Neurotransmitter disorders Amino acid disorder Leukodystrophy Cofactor disorder Lipid metabolism disorder Lysosomal storage disorder Lysosomal storage disorder Amino acid disorder Fatty Acid oxidation disorders Lysosomal storage disorder Congenital disorder of glycosylation Lysosomal storage disorder Mitochondria-related disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Neuronal ceroid lipofuscinosis Lysosomal storage disorder Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Cofactor disorder Fatty Acid oxidation disorders Fatty Acid oxidation disorders Purine/pyrimidine metabolism
devACT® Panel – Gene List
Gene HSD17B10 HYAL1 IDS IDUA ISPD IVD KCTD7 L2HGDH LARGE LARS2 LIPA LMBRD1 MAGT1 MAN1B1 MAN2B1 MANBA MCCC1 MCCC2 MCEE MFSD8 MGAT2 MLYCD MMAA MMAB MMACHC MMADHC MOCS1 MOCS2 MOGS MPDU1 MPI MTHFR MTR MTRR MUT NAGA NAGLU NAGS NDUFA1 NEU1 NPC1 NPC2 NT5C3A OTC OXCT1 PAH PANK2 PCBD1 PCCA PCCB PDHA1 PDHB
Disease Association Hydroxysteroid (17-beta) dehydrogenase 10; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency Mucopolysaccharidosis IX Mucopolysaccharidosis II, Hunter disease Hurler-Scheie syndromes Walker-Warburg syndrome Isovaleric acidemia Neuronal ceroid lipofuscinosis 14 (CLN 14) - Late infantile NCL; progressive myoclonic epilepsy 3 L-2-hydroxyglutaric aciduria Congenital muscular dystrophy type 1D (MDC1D) Perrault syndrome Cholesteryl ester storage disease; Wolman disease Methylmalonic aciduria and homocystinuria, cobalamin F type X-linked immunodeficiency with Mg(2+)defect, EBV infection and neoplasia Non-syndromic Autosomal Recessive Intellectual Disability 15 (N-linked congenital disorder of glycosylation) α-Mannosidosis β-Mannosidosis Elevated 3-hydroxyisovalerylcarnitine / 3-methylcrotonylglycine levels 3-methylcrotonyl-CoA carboxylase deficiency Methylmalonic coA epimerase deficiency Neuronal ceroid lipofuscinosis 7 (CLN7) - Late infantile NCL ("Turkish variant") Congenital disorder of glycosylation 2a Malonyl-CoA decarboxylase deficiency Methylmalonic acidaemia Methylmalonic aciduria Methylmalonic aciduria and homocystinuria, cobalamin C type Cobalamin disorders Molybdenum cofactor deficiency A Combined molybdenum cofactor deficiency/MOCS2 (type B deficiency). Congenital disorder of glycosylation Congenital disorder of glycosylation 1f Congenital disorder of glycosylation 1b Homocystinuria due to MTHFR deficiency; neural tube defects, susceptibility to; schizophrenia, susceptibility to; thromboembolism, susceptibility to; vascular disease, susceptibility to Homocystinuria-megaloblastic anemia, cblG complementation type; neural tube defects, folate-sensitive, susceptibility to Homocystinuria-megaloblastic anemia, cbl E type; neural tube defect, folate sensitive, susceptibility to methylmalonic acidemia Schindler disease; Kanzaki disease mucopolysaccharidosis type IIIB (Sanfilippo B) NAGS deficiency Mitochondrial complex 1 deficiency Sialidosis Niemann-Pick type C disease Niemann-pick disease, type C2 Anemia, hemolytic, due to UMPH1 deficiency Ornithine transcarbamylase deficiency Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency Phenylketonuria (PKU), hyperphenylalaninemia Pantothenate kinase-associated neurodegeneration/HARP syndrome Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) Propionic acidemia Propionic acidemia Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency
Page 4 of 12
Category Amino acid disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Congenital disorder of glycosylation Organic acidemia Neuronal ceroid lipofuscinosis Organic acidemia Congenital disorder of glycosylation Mitochondria-related disorder Endoplasmic reticulum Organic acidemia Transport disorders Congenital disorder of glycosylation Lysosomal storage disorder Lysosomal storage disorder Organic acidemia Organic acidemia Organic acidemia Neuronal ceroid lipofuscinosis Congenital disorder of glycosylation Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Cofactor disorder Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Folate metabolism Folate metabolism Folate metabolism Organic acidemia Lysosomal storage disorder Lysosomal storage disorder Urea cycle disorders Mitochondria-related disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Purine/pyrimidine metabolism Urea cycle disorders Organic acidemia Amino acid disorder Neurodegeneration Amino acid disorder Organic acidemia Organic acidemia Mitochondria-related disorder Mitochondria-related disorder
devACT® Panel – Gene List
Gene PDHX PDP1 PDSS1 PDSS2 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGK1 PGM1 PHGDH PHYH PMM2 PNPO POLG
POMGNT1
POMT1
POMT2 PPT1 PRPS1 PSAP PSAT1 PSPH PTS QDPR RFT1 SCN1A SGSH SLC16A2 SLC17A5 SLC19A1 SLC19A2
Disease Association Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency Coenzyme Q10 deficiency Coenzyme Q10 deficiency Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) peroxisome biogenesis disorder 9B; rhizomelic chondrodysplasia punctata, type 1 Phosphoglycerate kinase deficiency Congenital disorder of glycosylation, type It Phosphoglycerate dehydrogenase deficiency Refsum disease (hereditary motor sensory neuropathy type IV, heredopathia atactica polyneuritiformis) Phosphomannomutase 2 deficiency (congenital defect of glycosylation type 1a) Pyridoxamine phosphate oxidase deficiency Progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1); Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO); alpers-huttenlocher syndrome (AHS); and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3; Muscular dystrophy-dystroglycanopathy (limbe-girdle), type C, 3 (O-linked congenital disorder of glycosylation) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1; Muscular dystrophy-dystroglycanopathy (limbe-girdle), type C, 1 (O-linked congenital disorder of glycosylation) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; congenital muscular dystrophy-dystroglycanopathy with intellectual disability; limb-girdle muscular dystrophy-dystroglycanopathy Neuronal ceroid lipofuscinosis 1 (CLN 1) - Infantile classic NCL ("HaltiaSantavuori" type), late infantile NCL, juvenile NCL, adult NCL (Kufs disease) Phosphoribosylpyrophosphate synthetase superactivity Krabbe disease; Gaucher disease Phosphoserine aminotransferase deficiency Deficiency of phosphoserine phosphatase 6-pyruvoyltetrahydropterin synthase deficiency Quinoid dihydropteridine reductase deficiency N-linked glycosylation disorder Dravet syndrome; epilepsy, generalized, with febrile seizures plus, type 2; febrile seizures, familial, 3A; migraine, familial hemiplegic, 3 Mucopolysaccharidosis type IIIA (sanfilippo A) Allan-Herndon-Dudley syndrome Sialic Acid Storage Disease; Salla Disease Cerebral folate transport deficiency Thiamine-responsive megaloblastic anemia syndrome
Page 5 of 12
Category Mitochondria-related disorder Mitochondria-related disorder Coenzyme Q10 deficiency Coenzyme Q10 deficiency Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Glycolysis disorder Congenital disorder of glycosylation Amino acid disorder Peroxisomal disorder Congenital disorder of glycosylation Cofactor disorder Mitochondria-related disorder
Congenital disorder of glycosylation
Congenital disorder of glycosylation
Congenital disorder of glycosylation Neuronal ceroid lipofuscinosis Purine/pyrimidine metabolism Lysosomal storage disorder Amino acid disorder Amino acid disorder Pterin disorder Pterin disorder Congenital disorder of glycosylation Brain malformation and seizure disorders Lysosomal storage disorder Transport disorders Lysosomal storage disorder Transport disorders Cofactor disorder
devACT® Panel – Gene List
Gene SLC19A3 SLC22A5 SLC25A12 SLC25A13 SLC25A15 SLC25A20 SLC25A32 SLC2A1 SLC35A1 SLC35A2 SLC35C1 SLC46A1 SLC6A3 SLC6A4 SLC6A8 SMPD1 SPR SRD5A3 SSR4 ST3GAL3 STT3A STT3B SUMF1 SUOX TAT TH TIMM8A TMEM165 TMLHE TPH1 TPH2 TPP1 TRAP1 TUBA1A TUSC3
Disease Association Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2); can appear as Leigh disease or Wernicke encephalopathy Carnitine deficiency, systemic primary Global cerebral hypomyelination Citrullinemia, type II, neonatal-onset; Citrullinemia, adult-onset type II Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Carnitine-acylcarnitine translocase deficiency Mitochondrial inner membrane folate transporter deficiency Glucose transporter deficiency syndrome 1 (GLUT1); GLUT1 deficiency syndrome 2; dystonia 9; susceptibility to idiopathic generalized epilepsy 12 Congenital disorder of glycosylation, type 2f Congenital disorder of glycosylation, type 2m Congenital disorder of glycosylation 2c Hereditary folate malabsorption Hereditary dopamine transporter deficiency syndrome Serotonin transporter deficiency Cerebral creatine deficiency syndrome 1 Niemann-Pick Types A & B Sepiapterin reductase deficiency Congenital Disordes of Glycosylation-1q Congenital disorder of glycosylation Early infantile epileptic encephalopathy 15; Autosomal recessive intellectual disability 12 Congenital Disorders of Glycosylation Congenital disorders of glycosylation Multiple sulfatase deficiency Sulfite oxidase deficiency Tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible mental retardation, X-linked Tyrosine hydroxylase deficiency Mohr-Tranebjaerg syndrome, Jensen syndrome Congenital Disorders of Glycosylation-IIk Epsilon-trimethyllysine hydroxylase deficiency Tryptophan hydroxylase 1 deficiency Tryptophan hydroxylase 2 deficiency Neuronal ceroid lipofuscinosis 2 (CLN 2) - Late infantile classic NCL ("JanskýBielschowsky" type), juvenile NCL, possibly later-onset type NCL ***TRAP1 related disorder (T1ReD) Lissencephaly 3 Congenital disorder of glycosylation type 1t
Page 6 of 12
Category Transport disorders Fatty Acid oxidation disorders Transport disorders Transport disorders Amino acid disorder Transport disorders Transport disorders Transport disorders Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Transport disorders Neurotransmitter disorders Transport disorders Transport disorders Lysosomal storage disorder Pterin disorder Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Lysosomal storage disorder Amino acid disorder Amino acid disorder Neurotransmitter disorders Mitochondria-related disorder Congenital disorder of glycosylation Carnitine synthesis disorder Neurotransmitter disorders Neurotransmitter disorders Neuronal ceroid lipofuscinosis Mitochondria-related disorder Brain malformation and seizure disorders Congenital disorder of glycosylation
devACT® Panel – Gene List
devACT® Panel – Gene List by Category Gene AMT GCSH GLDC HSD17B10 PAH PCBD1 PHGDH PSAT1 PSPH SLC25A15 SUOX TAT CACNA1H CYP27A1 SCN1A TUBA1A TMLHE ADCK3 APTX COQ2 PDSS1 PDSS2 ALDH7A1 AMN BTD CBS GIF HLCS MOCS2 PNPO SLC19A2 ALG1 ALG11 ALG12 ALG13 ALG2 ALG3 ALG6 ALG8 ALG9 B4GALT1 COG1 COG4 COG5 COG6 COG7 COG8 CUBN DDOST DHDDS DOLK DPAGT1
Disease Association Glycine encephalopathy (non-ketotic hyperglycinemia) Glycine encephalopathy (non-ketotic hyperglycinemia) Glycine encephalopathy (non-ketotic hyperglycinemia) Hydroxysteroid (17-beta) dehydrogenase 10; 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency Phenylketonuria (PKU), hyperphenylalaninemia Tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) Phosphoglycerate dehydrogenase deficiency Phosphoserine aminotransferase deficiency Deficiency of phosphoserine phosphatase Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. Sulfite oxidase deficiency Tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible mental retardation, X-linked Epilepsy, childhood absence, 6; epilepsy, idopathic generalized, 6 Cerebrotendinous xanthomatosis Dravet syndrome; epilepsy, generalized, with febrile seizures plus, type 2; febrile seizures, familial, 3A; migraine, familial hemiplegic, 3 Lissencephaly 3 Epsilon-trimethyllysine hydroxylase deficiency Coenzyme Q10 deficiency Ataxia-Oculomotor Apraxia Coenzyme Q10 deficiency; COQ2 nephropathy Coenzyme Q10 deficiency Coenzyme Q10 deficiency Pyridoxine dependent epilepsy Megaloblastic anemia due to inborn errors of metabolism Biotinidase deficiency Homocystinuria, B6-responsive and nonresponsive types; thrombosis, hyperhomocysteinemia Intrinsic factor deficiency Holocarboxylase synthetase deficiency Combined molybdenum cofactor deficiency/MOCS2 (type B deficiency). Pyridoxamine phosphate oxidase deficiency Thiamine-responsive megaloblastic anemia syndrome Congenital disorder of glycosylation 1k Congenital disorder of glycosylation 1p Congenital disorder of glycosylation 1g Congenital disorder of glycosylation 1s Congenital disorder of glycosylation 1i Congenital disorder of glycosylation 1d Congenital disorder of glycosylation 1c Congenital disorder of glycosylation 1h Congenital disorder of glycosylation 1L Congenital disorder of glycosylation IId Congenital disorder of glycosylation IIg Congenital disorder of glycosylation IIj Congenital disorders of glycosylation IIi Congenital disorder of glycosylation IIL Congenital disorder of glycosylation IIe Congenital disorder of glycosylation IIh Megaloblastic anemia due to inborn errors of metabolism Congenital Disorders of Glycosylation-1r Congenital Disorders of Glycosylation Congenital disorder of glycosylation, Cardiomyopathy, dilated Congenital disorder of glycosylation 1j
Page 7 of 12
Category Amino acid disorder Amino acid disorder Amino acid disorder Amino acid disorder Amino acid disorder Amino acid disorder Amino acid disorder Amino acid disorder Amino acid disorder Amino acid disorder Amino acid disorder Amino acid disorder Brain malformation and seizure disorders Brain malformation and seizure disorders Brain malformation and seizure disorders Brain malformation and seizure disorders Carnitine synthesis disorder Coenzyme Q10 deficiency Coenzyme Q10 deficiency Coenzyme Q10 deficiency Coenzyme Q10 deficiency Coenzyme Q10 deficiency Cofactor disorder Cofactor disorder Cofactor disorder Cofactor disorder Cofactor disorder Cofactor disorder Cofactor disorder Cofactor disorder Cofactor disorder Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation
devACT® Panel – Gene List
Gene DPM1 DPM2 DPM3 FKRP
FKTN GMPPA ISPD LARGE MAN1B1 MGAT2 MOGS MPDU1 MPI PGM1 PMM2 POMGNT1
POMT1
POMT2 RFT1 SLC35A1 SLC35A2 SLC35C1 SRD5A3 SSR4 ST3GAL3 STT3A STT3B TMEM165 TUSC3 ATP7A ATP7B CP GAMT GATM LIPA ACADM ACADS ACADVL CPT1A
Disease Association Congenital disorder of glycosylation 1e Congenital Disorders of Glycosylation Alpha-dystroglycanopathy Muscular dystrophy-dystroglycanopathy (MDDG): a severe congenital form with brain and eye anomalies (type A5; MDDGA5), formerly designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB); a less severe congenital form with or without mental retardation (type B5; MDDGB5); and a milder limb-girdle form (type C5; MDDGC5), previously designated LGMD2I. Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Congenital disorder of glycosylation Walker-Warburg syndrome Congenital muscular dystrophy type 1D (MDC1D) Non-syndromic Autosomal Recessive Intellectual Disability 15 (N-linked congenital disorder of glycosylation) Congenital disorder of glycosylation 2a Congenital disorder of glycosylation Congenital disorder of glycosylation 1f Congenital disorder of glycosylation 1b Congenital disorder of glycosylation, type It Phosphomannomutase 2 deficiency (congenital defect of glycosylation type 1a) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3; Muscular dystrophy-dystroglycanopathy (limbe-girdle), type C, 3 (O-linked congenital disorder of glycosylation) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1; Muscular dystrophy-dystroglycanopathy (limbe-girdle), type C, 1 (O-linked congenital disorder of glycosylation) Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2; congenital muscular dystrophy-dystroglycanopathy with intellectual disability; limb-girdle muscular dystrophy-dystroglycanopathy N-linked glycosylation disorder Congenital disorder of glycosylation, type 2f Congenital disorder of glycosylation, type 2m Congenital disorder of glycosylation 2c Congenital Disordes of Glycosylation-1q Congenital disorder of glycosylation Early infantile epileptic encephalopathy 15; Autosomal recessive intellectual disability 12 Congenital Disorders of Glycosylation Congenital disorders of glycosylation Congenital Disorders of Glycosylation-IIk Congenital disorder of glycosylation type 1t Menkes disease - classic and mild forms Wilson disease Deficiency of ferroxidase (aceruloplasminemia) cerebral creatine deficiency syndrome 2 cerebral creatine deficiency syndrome 3 Cholesteryl ester storage disease; Wolman disease Medium chain acyl-CoA dehydrogenase deficiency (MCAD) Short chain acyl-CoA dehydrogenase (SCAD) deficiency Very long chain acyl-CoA dehydrogenase deficiency (VLCAD) Carnitine palmitoyltransferase 1 deficiency - Hepatic encephalopathy form, adult myopathy form, or acute fatty liver of pregnancy form
Page 8 of 12
Category Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation
Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation
Congenital disorder of glycosylation
Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Congenital disorder of glycosylation Copper metabolism disorder Copper metabolism disorder Copper metabolism disorder Creatine metabolism Creatine metabolism Endoplasmic reticulum Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders
devACT® Panel – Gene List
Gene CPT2
PGK1 ASPA GFAP EIF2B1
Disease Association Carnitine palmitoyltransferase 2 deficiency - Lethal neonatal form, severe infantile hepatocardiomuscular form, or myopathic form Glutaric Acidemia IIA (Multiple Acyl-CoA Dehydrogenase Deficiency) Glutaric acidemia IIB Glutaric acidemia IIC Hyperinsulinism-hyperammonemia syndrome 3-hydroxyacyl-CoA dehydrogenase deficiency; Hypoglycemia, hyperinsulinemic Long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD); trifunctional protein deficiency Long-chain-3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD); trifunctional protein deficiency HMG-CoA lyase deficiency HMG-CoA synthase-2 deficiency Carnitine deficiency, systemic primary Megaloblastic anemia due to dihydrofolate reductase deficiency Neurodegeneration due to cerebral folate transport deficiency Potential disorder folate metabolism Potential disorder of folate metabolism Glutamate formiminotransferase deficiency Homocystinuria due to MTHFR deficiency; neural tube defects, susceptibility to; schizophrenia, susceptibility to; thromboembolism, susceptibility to; vascular disease, susceptibility to Homocystinuria-megaloblastic anemia, cblG complementation type; neural tube defects, folate-sensitive, susceptibility to Homocystinuria-megaloblastic anemia, cbl E type; neural tube defect, folate sensitive, susceptibility to Phosphoglycerate kinase deficiency Canavan disease Alexander disease Leukodystrophy vanishing white matter
EIF2B2
Leukodystrophy vanishing white matter
EIF2B3
Leukodystrophy vanishing white matter
EIF2B4
Leukodystrophy vanishing white matter
EIF2B5
Leukodystrophy vanishing white matter
ALDH3A2 DHCR7 GK AGA ARSA ARSB ASAH1
Sjogren-Larsson syndrome Smith-Lemli-Opitz syndrome Glycerol kinase deficiency Lysosomal storage disease aspartylglycosaminuria Metachromatic leukodystrophy Mucopolysaccharidosis type 6 (MPS 6) Farber lipogranulomatosis; Spinal muscular atrophy with progressive myoclonic epilepsy Cystinosis Galactosialidosis Fucosidosis Pompe disease Krabbe disease Mucopolysaccharidosis type IV-A (MPS 4A); Morquio syndrome Fabry disease GM1 gangliosidosis GM2 gangliosidoses type AB Sialuria; autosomal recessive inclusion body myopathy; Nonaka myopathy Mucolipidoses II (I-cell disease) & III (pseudo-Hurler polydystrophy)
ETFA ETFB ETFDH GLUD1 HADH HADHA HADHB HMGCL HMGCS2 SLC22A5 DHFR FOLR1 FOLR2 FPGS FTCD MTHFR MTR MTRR
CTNS CTSA FUCA1 GAA GALC GALNS GLA GLB1 GM2A GNE GNPTAB
Page 9 of 12
Category Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Fatty Acid oxidation disorders Folate metabolism Folate metabolism Folate metabolism Folate metabolism Folate metabolism Folate metabolism Folate metabolism Folate metabolism Glycolysis disorder Leukodystrophy Leukodystrophy Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter Leukodystrophy with vanishing white matter Lipid metabolism disorder Lipid metabolism disorder Lipid metabolism disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder
devACT® Panel – Gene List
Gene GNPTG GNS GUSB HEXA HEXB HGSNAT HYAL1 IDS IDUA MAN2B1 MANBA NAGA NAGLU NEU1 NPC1 NPC2 PSAP SGSH SLC17A5 SMPD1 SUMF1 ACAD9 CISD2 COQ9 DLAT DLD GNPAT LARS2 NDUFA1 PDHA1 PDHB PDHX PDP1 POLG
TIMM8A TRAP1 PANK2 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD CTSF DNAJC5 GRN KCTD7 MFSD8 PPT1
Disease Association Mucolipidosis III gamma Mucopolysaccharidosis type IIID, Sanfilippo syndrome D Mucopolysaccharidosis VII Tay-Sachs disease (GM2 gangliosidosis B) Sandhoff disease (GM2 gangliosidosis type O) Mucopolysaccharidosis type IIIC (Sanfilippo C) Mucopolysaccharidosis IX Mucopolysaccharidosis II, Hunter disease Hurler-Scheie syndromes α-Mannosidosis β-Mannosidosis Schindler disease; Kanzaki disease mucopolysaccharidosis type IIIB (Sanfilippo B) Sialidosis Niemann-Pick type C disease Niemann-pick disease, type C2 Krabbe disease; Gaucher disease Mucopolysaccharidosis type IIIA (sanfilippo A) Sialic Acid Storage Disease; Salla Disease Niemann-Pick Types A & B Multiple sulfatase deficiency Mitochondrial complex I deficiency Wolfram syndrome 2 Autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency. Pyruvate dehydrogenase E2 deficiency Dihydrolipoamide dehydrogenase deficiency Rhizomelic chondrodysplasia punctata type II - a peroxisomal disorder Perrault syndrome Mitochondrial complex 1 deficiency Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency Pyruvate dehydrogenase complex deficiency Progressive external ophthalmoplegia with mitochondrial DNA deletions 1 (PEOA1); Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO); alpers-huttenlocher syndrome (AHS); and mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) Mohr-Tranebjaerg syndrome, Jensen syndrome ***TRAP1 related disorder (T1ReD) Pantothenate kinase-associated neurodegeneration/HARP syndrome Neuronal ceroid lipofuscinosis 12 (CLN 12) - Juvenile NCL Neuronal ceroid lipofuscinosis 3 (CLN 3) - Classic juvenile NCL ("SpielmeyerSjögren"), adult NCL (Kufs disease) Neuronal ceroid lipofuscinosis 5 (CLN 5) - Late infantile NCL ("Finnish variant"), Juvenile NCL, Adult NCL (Kufs disease) Neuronal ceroid lipofuscinosis 6 (CLN 6) - Late infantile NCL ("LakeCavanagh or Indian variant"), adult NCL (Kufs disease type A) Neuronal ceroid lipofuscinosis 8 (CLN 8) - Late infantile NCL, Northern epilepsy (progressive epilepsy with mental retardation or EPMR) Neuronal ceroid lipofuscinosis 10 (CLN 10) - Congenital NCL, Late-infantile NCL, or Teenage-/adult-onset NCL Neuronal ceroid lipofuscinosis 13 (CLN 13) - Adult NCL (Kufs disease type B) Neuronal ceroid lipofuscinosis 4 (CLN 4) - Adult NCL (Parry disease) Neuronal ceroid lipofuscinosis 11 (CLN 11) - Adult NCL (Kufs disease) Neuronal ceroid lipofuscinosis 14 (CLN 14) - Late infantile NCL; progressive myoclonic epilepsy 3 Neuronal ceroid lipofuscinosis 7 (CLN7) - Late infantile NCL ("Turkish variant") Neuronal ceroid lipofuscinosis 1 (CLN 1) - Infantile classic NCL ("HaltiaSantavuori" type), late infantile NCL, juvenile NCL, adult NCL (Kufs disease)
Page 10 of 12
Category Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Lysosomal storage disorder Mitochondria-related disorder Mitochondria-related disorder Mitochondria-related disorder Mitochondria-related disorder Mitochondria-related disorder Mitochondria-related disorder Mitochondria-related disorder Mitochondria-related disorder Mitochondria-related disorder Mitochondria-related disorder Mitochondria-related disorder Mitochondria-related disorder Mitochondria-related disorder
Mitochondria-related disorder Mitochondria-related disorder Neurodegeneration Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis Neuronal ceroid lipofuscinosis
devACT® Panel – Gene List
Gene TPP1 AASS ABAT ALDH5A1 CHAT DBH DDC GCH1 SLC6A3 TH TPH1 TPH2 ABCD4 ACAD8 ACAT1 AUH BCKDHA BCKDHB BCKDK DBT ETHE1 GCDH IVD L2HGDH LMBRD1 MCCC1 MCCC2 MCEE MLYCD MMAA MMAB MMACHC MMADHC MOCS1 MUT OXCT1 PCCA PCCB ABCD1 ABCD3 ACOX1 PEX1 PEX10 PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7
Disease Association Neuronal ceroid lipofuscinosis 2 (CLN 2) - Late infantile classic NCL ("JanskýBielschowsky" type), juvenile NCL, possibly later-onset type NCL Alpha-aminoadipic acid semialdehyde dehydrogenase deficiency GABA-transaminase deficiency Succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria) Myasthenic syndrome, congenital, associated with episodic apnea Dopamine beta-hydroxylase deficiency aromatic l-amino acid decarboxylase deficiency GTP cyclohydrolase deficiency (Hyperphenylalaninemia, BH4-deficient, B) Hereditary dopamine transporter deficiency syndrome Tyrosine hydroxylase deficiency Tryptophan hydroxylase 1 deficiency Tryptophan hydroxylase 2 deficiency Methylmalonic acidemia and homocystinuria type CblJ Isobutyryl-CoA dehydrogenase deficiency Acetoacetyl-CoA-thiolase deficiency (ketothiolase deficiency) 3-methylglutaconic aciduria type I (MCGA1) disorder Maple syrup urine disease type 1a Maple syrup urine disease type 1b Branched-chain ketoacid dehydrogenase kinase deficiency (2-methylbutarylCoA dehydrogenase deficiency, SBCADD) Maple syrup urine disease type 2 Encephalopathy, ethylmalonic Glutaric acidemia I Isovaleric acidemia L-2-hydroxyglutaric aciduria Methylmalonic aciduria and homocystinuria, cobalamin F type Elevated 3-hydroxyisovalerylcarnitine / 3-methylcrotonylglycine levels 3-methylcrotonyl-CoA carboxylase deficiency Methylmalonic coA epimerase deficiency Malonyl-CoA decarboxylase deficiency Methylmalonic acidaemia Methylmalonic aciduria Methylmalonic aciduria and homocystinuria, cobalamin C type Cobalamin disorders Molybdenum cofactor deficiency A methylmalonic acidemia Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency Propionic acidemia Propionic acidemia Adrenoleukodystrophy Zellweger syndrome 2 Peroxisomal acyl-CoA oxidase deficiency (pseudoneonatal adrenoleukodystrophy) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) Disorders of peroxisomal biogenesis (Zellweger syndrome spectrum) peroxisome biogenesis disorder 9B; rhizomelic chondrodysplasia punctata, type 1
Page 11 of 12
Category Neuronal ceroid lipofuscinosis Neurotransmitter disorders Neurotransmitter disorders Neurotransmitter disorders Neurotransmitter disorders Neurotransmitter disorders Neurotransmitter disorders Neurotransmitter disorders Neurotransmitter disorders Neurotransmitter disorders Neurotransmitter disorders Neurotransmitter disorders Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Organic acidemia Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder Peroxisomal disorder
devACT® Panel – Gene List
Gene PHYH PTS QDPR SPR ADSL DPYD HPRT1 NT5C3A PRPS1 MAGT1 SLC16A2 SLC19A1 SLC19A3 SLC25A12 SLC25A13 SLC25A20 SLC25A32 SLC2A1 SLC46A1 SLC6A4 SLC6A8 ARG1 ASL ASS1 CPS1 NAGS OTC
Disease Association Refsum disease (hereditary motor sensory neuropathy type IV, heredopathia atactica polyneuritiformis) 6-pyruvoyltetrahydropterin synthase deficiency Quinoid dihydropteridine reductase deficiency Sepiapterin reductase deficiency Adenylosuccinate lyase (ADSL) deficiency, adenylosuccinase deficiency, autistic spectrum disorder, succinylpurinemic autism Dihydropyrimidine dehyrogenase deficiency HPRT-related gout; Lesch-Nyhan syndrome Anemia, hemolytic, due to UMPH1 deficiency Phosphoribosylpyrophosphate synthetase superactivity X-linked immunodeficiency with Mg(2+)defect, EBV infection and neoplasia Allan-Herndon-Dudley syndrome Cerebral folate transport deficiency Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2); can appear as Leigh disease or Wernicke encephalopathy Global cerebral hypomyelination Citrullinemia, type II, neonatal-onset; Citrullinemia, adult-onset type II Carnitine-acylcarnitine translocase deficiency Mitochondrial inner membrane folate transporter deficiency Glucose transporter deficiency syndrome 1 (GLUT1); GLUT1 deficiency syndrome 2; dystonia 9; susceptibility to idiopathic generalized epilepsy 12 Hereditary folate malabsorption Serotonin transporter deficiency Cerebral creatine deficiency syndrome 1 Arginase deficiency Spinal muscular atrophy with progressive myoclonic epilepsy Citrullinemia - Several forms: acute neonatal, milder later onset, pregnancy/postpartum in women, asymptomatic Carbamoylphosphate synthetase 1 deficiency, hyperammonemia NAGS deficiency Ornithine transcarbamylase deficiency
Page 12 of 12
Category Peroxisomal disorder Pterin disorder Pterin disorder Pterin disorder Purine/pyrimidine metabolism Purine/pyrimidine metabolism Purine/pyrimidine metabolism Purine/pyrimidine metabolism Purine/pyrimidine metabolism Transport disorders Transport disorders Transport disorders Transport disorders Transport disorders Transport disorders Transport disorders Transport disorders Transport disorders Transport disorders Transport disorders Transport disorders Urea cycle disorders Urea cycle disorders Urea cycle disorders Urea cycle disorders Urea cycle disorders Urea cycle disorders
