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Genes Investigated BabyNEXTTM EXTENDED Investigated genes and associated diseases Gene Disease OMIM OMIM Condition RUSP gene Disease ABCC8 Familial hyperinsulinism 600509 256450 Metabolic disorder - ABCC8-related Inborn error of amino acid metabolism ABCD1 Adrenoleukodystrophy 300371 300100 Miscellaneous RUSP multisystem (C) * diseases ABCD4 Methylmalonic aciduria and 603214 614857 Metabolic disorder - homocystinuria, cblJ type Inborn error of amino acid metabolism ACAD8 Isobutyryl-CoA 604773 611283 Metabolic Disorder - RUSP dehydrogenase deficiency Inborn error of (S) ** organic acid metabolism ACAD9 acyl-CoA dehydrogenase-9 611103 611126 Metabolic Disorder - (ACAD9) deficiency Inborn error of fatty acid metabolism ACADM Acyl-CoA dehydrogenase, 607008 201450 Metabolic Disorder - RUSP medium chain, deficiency of Inborn error of fatty (C) acid metabolism ACADS Acyl-CoA dehydrogenase, 606885 201470 Metabolic Disorder - RUSP short-chain, deficiency of Inborn error of fatty (S) acid metabolism ACADSB 2-methylbutyrylglycinuria 600301 610006 Metabolic Disorder - RUSP Inborn error of (S) organic acid metabolism ACADVL very long-chain acyl-CoA 609575 201475 Metabolic Disorder - RUSP dehydrogenase deficiency Inborn error of fatty (C) acid metabolism ACAT1 Alpha-methylacetoacetic 607809 203750 Metabolic Disorder - RUSP aciduria Inborn error of (C) organic acid metabolism ACSF3 Combined malonic and 614245 614265 Metabolic Disorder - methylmalonic aciduria Inborn error of organic acid metabolism 1 ADA Severe combined 608958 102700 Primary RUSP immunodeficiency due to Immunological (S) ADA deficiency deficiency ADK Hypermethioninemia due to 102750 614300 Metabolic Disorder - RUSP adenosine kinase deficiency Inborn error of (S) amino acid metabolism AGL Glycogen storage disease, 610860 232400 Other Disorders type III AGXT Primary hyperoxaluria, type 604285 259900 1 AHCY Hypermethioninemia with 180960 613752 Metabolic Disorder - RUSP deficiency of S- Inborn error of (S) adenosylhomocysteine amino acid hydrolase metabolism AK2 Reticular dysgenesis 103020 267500 Primary Immunological deficiency AKR1D1 Bile acid synthesis defect, 604741 235555 congenital, 3 ALDH4A1 Hyperprolinemia, type II 606811 239510 Metabolic disorder - Inborn error of amino acid metabolism ALDH7A1 Epilepsy, pyridoxine- 107323 266100 Neurotransmitter dependent Disorders ALDOB Fructose intolerance, 612724 229600 Metabolic Disorder - hereditary Inborn error of organic acid metabolism ALPL Hypophosphatasia 171760 241500 ANK1 Spherocytosis, type 2 612641 182900 AQP2 Diabetes insipidus, 107777 125800 nephrogenic 2 ARG1 Argininemia 608313 207800 Metabolic Disorder - RUSP Inborn error of (S) amino acid metabolism ARSA Metachromatic 607574 250100 Lysosomal Storage leukodystrophy Disorders (LSD) ARSB Mucopolysaccharidosis type 611542 253200 Lysosomal Storage VI (Maroteaux-Lamy) Disorders (LSD) ASL Argininosuccinic aciduria 608310 207900 Metabolic Disorder - RUSP Inborn error of (C) amino acid metabolism ASS1 Citrullinemia Type 1 603470 215700 Metabolic Disorder - RUSP Inborn error of (C) amino acid metabolism AUH 3-methylglutaconic aciduria, 600529 250950 Metabolic Disorder - RUSP type I Inborn error of (S) organic acid metabolism AVPR2 Nephrogenic syndrome of 300538 300539 inappropriate antidiuresis / Nephrogenic diabetes insipidus AVPR2-related BCKDHA Maple syrup urine disease, 608348 248600 Metabolic Disorder - RUSP type Ia Inborn error of (C) amino acid metabolism BCKDHB Maple syrup urine disease, 248611 248600 Metabolic Disorder - RUSP type Ib Inborn error of (C) amino acid metabolism BTD Biotinidase deficiency 609019 253260 Miscellaneous RUSP multisystem (C) diseases BTK Agammaglobulinemia, X- 300300 300755 Primary linked 1 Immunological deficiency CASR Neonatal 601199 601198 Endocrine Disorder hyperparathyroidism / Autosomal dominant hypocalcemia 3 CBS Homocystinuria, B6- 613381 236200 Metabolic Disorder - RUSP responsive and Inborn error of (C) nonresponsive types amino acid metabolism CD247 Immunodeficiency 25 186780 610163 Primary Immunological deficiency CD320 Methylmalonic aciduria, 606475 613646 Metabolic Disorder - transient, due to Inborn error of transcobalamin receptor organic acid defect metabolism CD3D Immunodeficiency 19 186790 615617 Primary Immunological deficiency CD3E Immunodeficiency 18 186830 615615 Primary Immunological deficiency CFTR Cystic fibrosis 602421 219700 Miscellaneous RUSP multisystem (C) diseases COL4A3 Alport syndrome COL4A3- 120070 104200 related COL4A4 Alport syndrome, autosomal 120131 203780 recessive COL4A5 Alport syndrome 303630 301050 CPS1 Carbamoylphosphate 608307 237300 Metabolic Disorder - synthetase I deficiency Inborn error of amino acid metabolism CPT1A Carnitine 600528 255120 Metabolic Disorder - RUSP palmitoyltransferase type I Inborn error of fatty (S) deficiency acid metabolism CPT2 Carnitine 600650 255110 Metabolic Disorder - RUSP palmitoyltransferase type II Inborn error of fatty (S) deficiency acid metabolism CTH Cystathioninuria 607657 219500 Metabolic Disorder - Inborn error of amino acid metabolism 4 CTNS Cystinosis 606272 219800 Lysosomal Storage Disorders (LSD) CYBA Chronic granulomatous 608508 233690 disease, autosomal, due to deficiency of CYBA CYBB Chronic granulomatous 300481 306400 disease CYBB-related CYP11B1 Congenital adrenal 610613 202010 Endocrine Disorder hyperplasia due to 11-beta- hydroxylase deficiency CYP11B2 Corticosterone 124080 610600 methyloxidase deficiency CYP21A2 Adrenal hyperplasia, 613815 201910 Endocrine Disorder RUSP congenital, due to 21- (C) hydroxylase deficiency CYP27A1 Cerebrotendinous 606530 213700 Other Disorders xanthomatosis DBT Maple syrup urine disease, 248610 248600 Metabolic Disorder - RUSP type II Inborn error of (C) amino acid metabolism DCLRE1C Omenn syndrome / Severe 605988 603554 Primary combined Immunological immunodeficiency, deficiency Athabaskan-type DECR1 2,4-dienoyl-CoA reductase 222745 Metabolic Disorder - deficiency Inborn error of fatty acid metabolism DLD Dihydrolipoamide 238331 246900 Metabolic Disorder - dehydrogenase deficiency Organic Acidemias DNAJC19 Hyperphenylalaninemia, 606060 617384 Metabolic Disorder - RUSP mild, non-BH4-deficient Inborn error of (S) amino acid metabolism DUOX2 Thyroid dyshormonogenesis 606759 607200 Endocrine Disorder 6 5 DUOXA2 Thyroid dyshormonogenesis 612772 274900 Endocrine Disorder 5 EPB42 Spherocytosis, type 6 177070 612690 ETFA Glutaric acidemia IIA 608053 231680 Metabolic Disorder - RUSP Inborn error of fatty (S) acid metabolism ETFB Glutaric acidemia IIB 130410 231680 Metabolic Disorder - RUSP Inborn error of fatty (S) acid metabolism ETFDH Glutaric acidemia IIC 231675 231680 Metabolic Disorder - RUSP Inborn error of fatty (S) acid metabolism ETHE1 Ethylmalonic 608451 602473 Metabolic Disorder - encephalopathy Organic Acidemias F9 Factor IX deficiency 300746 300807 FAH Tyrosinemia, type I 613871 276700 Metabolic Disorder - RUSP Inborn error of (C) amino acid metabolism FBN1 Marfan syndrome and 134797 154700 other FBN1-related disorders FBP1 Fructose-1,6- 611570 229700 Metabolic Disorder - bisphosphatase deficiency Organic Acidemias FOLR1 Neurodegeneration due to 136430 613068 Other Disorders cerebral folate transport deficiency FTCD Glutamate 606806 229100 Metabolic Disorder - formiminotransferase Organic Acidemias deficiency G6PC Glycogen storage disease, 613742 232200 Metabolic Disorder - type Ia Inborn error of organic acid metabolism G6PD Hemolytic anemia, G6PD 305900 300908 Miscellaneous deficient (favism) multisystem diseases 6 GAA Glycogen storage disease II - 606800 232300 Lysosomal Storage RUSP Pompe disease Disorders (LSD) (C) GALC Krabbe disease 606890 245200 Lysosomal Storage Disorders (LSD) GALE Galactose epimerase 606953 230350 Miscellaneous RUSP deficiency multisystem (S) diseases GALK1 Galactokinase deficiency 604313 230200 Miscellaneous RUSP with cataracts multisystem (S) diseases GALNS Mucopolysaccharidosis IVA 612222 253000 Lysosomal Storage Disorders (LSD) GALT Galactosemia 606999 230400 Miscellaneous RUSP multisystem (C) diseases GAMT Cerebral creatine deficiency 601240 612736 syndrome 2 GATM Cerebral creatine deficiency 602360 612718 syndrome GBA Gaucher disease, type I 606463 230800 Lysosomal Storage Disorders (LSD) GCDH Glutaricaciduria, type I 608801 231670 Metabolic Disorder - RUSP Inborn error of (C) organic acid metabolism GCH1 Hyperphenylalaninemia, 600225 233910 Metabolic Disorder - RUSP BH4-deficient, B Inborn error of (S) amino acid metabolism GJB2 Deafness, autosomal 121011 220290 Deafness RUSP recessive 1A (C) GJB3 Deafness, digenic, 603324 220290 Deafness RUSP GJB2/GJB3 (C) GJB6 Deafness, digenic 604418 220290 Deafness RUSP GJB2/GJB6 (C) GLA Fabry disease 300644 301500 Lysosomal Storage Disorders (LSD) GLIS3 Diabetes mellitus, neonatal, 610192 610199 Endocrine Disorder with congenital hypothyroidism 7 GLUD1 congenital hyperinsulinic 138130 606762 Endocrine Disorders hyperammonemia (HI/HA) syndrome GNAS Pseudohypoparathyroidism 139320 103580 Endocrine Disorders Ia GNAS Pseudohypoparathyroidism 139320 603233 Endocrine Disorders Ib GNAS Pseudohypoparathyroidism 139320 612462 Endocrine Disorders Ic GNAS Pseudopseudohypoparathyr 139320 612463 Endocrine Disorders oidism GNMT Glycine N- 606628 606664 Metabolic Disorder - methyltransferase Inborn error of deficiency amino acid metabolism GRHPR Hyperoxaluria, primary, 604296 260000 Metabolic Disorder - type II Inborn error of amino acid metabolism GSS Glutathione synthetase 601002 266130 Metabolic Disorder - deficiency - 5-oxoprolinuria Inborn error of amino acid
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