Combined Oxidative Phosphorylation RMND1 Donnai-Barrow Syndrome LRP2 Gitelman Syndrome SLC12A3 Hypomagnesemia Type 1-6 CLDN16 LMNA-Related Disorders LMNA Nephrolithiasis/Osteoporosis, SLC34A1 Polycystic Kidney Disease (PKD), PKD1 Renal Tubular Acidosis ATP6V0A4 Sotos Syndrome 1 NSD1 CLDN19 1 and 2, Autosomal Dominant PKD2 ATP6V1B1 De ciency, Type 11 Duane-Radial Ray Syndrome SALL4 Glomerulocystic Kidney Disease HNF1B Lowe Syndrome OCRL Hypophosphatemic 1 and 2 SLC9A3R1 Steroid-Resistant Nephrotic ALG13 CNNM2 CA2 Complement Component 5 C5 REN Nephronophthisis 1–4, 7, 9, 11–13, ANKS6 Polycystic Kidney Disease, PKHD1 Syndrome SYNPO Eagle-Barrett Syndrome CHRM3 CNNM2 LRP5-Related Disorders LRP5 FOXI1 De ciency UMOD 15, 16, 19 CEP164 Autosomal Recessive EGF SLC4A1 Steroid-Resistant Nephrotic ARHGAP24 Genetic Conditions and Genes Ectrodactyly, Ectodermal Dysplasia, TP63 Lymphedema-Distichiasis Syndrome FOXC2 DCDC2 Complement Factor H, I De ciency CFH Glomerulopathy with Fibronectin FN1 FXYD Polycystic Liver Disease (PLD), 1–3 ALG8 SLC4A4 Syndrome with Focal and Cleft Lip/Palate Syndrome 3 with Renal Disease and GLIS2 CFI Deposits 2 KCNA1 Diabetes Mellitus PRKCSH WDR72 Segmental Hyalinosis Encephalocraniocutaneous FGFR1 INVS Glucocorticoid Resistance, NR3C1 TRPM6 SEC63 Sucrase-Isomaltase De ciency SI Congenital Adrenal Hyperplasia CYP11B1 Lipomatosis Lysinuric Protein Intolerance SLC7A7 NEK8 Renal Tubular Disease NEDD4L 385 genes associated with monogenic due to 3-Beta-Hydroxysteroid HSD3B2 Generalized Hypoparathyroidism, GCM2 NPHP1 Primary Hyperoxaluria Type 1, 2, 3 AGXT Susceptibility to End-Stage Renal APOL1 Epilepsy, Progressive Myoclonic, 4 SCARB2 Mandibulfacial Dysostosis with EDNRA Renal Tubular Dysgenesis ACE Dehydrogenase De ciency and Glycogen Storage Disease, G6PC Familial Isolated NPHP3 GRHPR Disease with or without Renal Failure Alopecia AGT 11-Beta-Hydroxylase De ciency NPHP4 HOGA1 Type 1A, 1B/1C, 11 LDHA Hypoparathyroidism, Sensorineural GATA3 AGTR1 Susceptibility to Gout ABCG2 Epstein Syndrome MYH9 Maturity Onset Diabetes of the BLK disorders linked to kidney disease Congenital Adrenal Hypoplasia with NR0B1 SLC37A4 Deafness, and Renal Dysplasia SLC41A1 Prune Belly Syndrome CHRM3 REN Young (MODY), Type 2-4, 6-9, 11 CEL Susceptibility to Hypertension STK39 Hypogonadotropic Hypogonadism Fabry Disease GLA TMEM67 Golabi-Behmel Syndrome, Type 2 OFD1 Hypophosphatasia ALPL GCK Pseudohypoaldosteronism Type I, NR3C2 Renal-Hepatic-Pancreatic NEK8 TTC21B Systemic Lupus Erythematosus 16 DNASE1L3 Congenital Anomalies of the Kidney PBX1 Familial Cold-Induced In ammatory NLRP3 Autosomal Dominant Hypertension, Hajdu-Cheney Syndrome NOTCH2 Hypophosphatemic Rickets CLCN5 HNF1A WDR19 Dysplasia 2 and Urinary Tract Syndrome with or Syndrome, Type 1, 3 PLCG2 Early-Onset Thrombophilia due to THBD DMP1 KLF11 XPNPEP3 Rickets due to Defect in Vitamin D CYP2R1 without Hearing Loss, Abnormal Ears, Hand-Foot-Uterus Syndrome HOXA13 Thrombomodulin Defect Familial Dysautonomia, Hereditary ELP1 ENPP1 NEUROD1 Pseudohypoaldosteronism, CUL3 25-hydroxylation or Developmental Delay (CAKUTHED) Hartnup Disorder SLC6A19 Nephropathy due to CFHR5 CFHR5 Sensory and Autonomic Neuropathy FGF23 PAX4 Type 1, 1B, 2B, 2C, 2D, 2E KLHL3 Thrombotic Thrombocytopenic ADAMTS13 De ciency Robinow Syndrome ROR2 Congenital Disorder of Glycosylation, ALG1 Type 3 Hereditary Angiopathy with COL4A1 PHEX PDX1 SCNN1A Purpura, Familial WNT5A Type 1A, 1H, 1K, 1L ALG8 Nephropathy, Aneurysms and Nephropathy with Pretibial CD151 Condition Name Genes Condition Name Genes Condition Name Genes Familial Mediterranean Fever MEFV VDR Meckel Syndrome, Type 3,4,7 CEP290 SCNN1B Townes-Brocks Syndrome 1 SALL1 ALG9 Muscle Cramps (HANAC) Epidermolysis Bullosa and Deafness SCNN1G Rubinstein-Taybi Syndrome, Type 1 CREBBP Hypotrichosis-Lymphedema- SOX18 NPHP3 PMM2 Fanconi Anemia, Group A, B, C, FANCA Tuberous Sclerosis 1, 2 TSC1 Hereditary Renal Amyloidosis FGA TMEM67 Nephrotic Syndrome DLC1 WNK1 Scalp-Ear-Nipple Syndrome KCTD1 17-Alpha-Hydroxylase 17/20 CYP17A1 Autoin ammation, PLCG2 Branchiooculofacial Syndrome TFAP2A D2, E, F, G, I, L, M, N, O, P FANCB Telangiectasia-Renal Defect TSC2 Congenital Hyperinsulinism KCNJ11 ITSN2 WNK4 -Lyase De ciency Antibody De ciency, and Syndrome Medullary Cystic Kidney Disease UMOD Schimke Immunoosseous Dysplasia SMARCAL1 Branchio-Oto-Renal Syndrome, SIX1 FANCC Hermansky-Pudlak Syndrome 1 HPS1 KANK1 Tubulointerstitial Kidney Disease, HNF1B Cornelia de Lange Syndrome SMC1A Pseudohypoparathyroidism Type 1B GNAS Immune Dysregulation Syndrome Type 1, 2 EYA1 FANCD2 Hypouricemia, Renal, Type 1, 2 SLC22A12 Megaloblastic Anemia 1 CUBN Seizures, Sensorineural Deafness, KCNJ10 5-Oxoprolinase De ciency OPLAH Hyperaldosteronism, Familial, CACNA1H TNS2 STX16 Autosomal Dominant REN Axenfeld-Rieger Syndrome, Type 3 FOXC1 SIX5 Corticosterone Methyloxidase CYP11B2 FANCE SLC2A9 AMN Ataxia, Mental Retardation, and UMOD Acroosteolysis, Dominant NOTCH2 Type 1, 2, 3, 4 CLCN2 Nephrotic Syndrome Type 2-7, 15, DGKE De ciency FANCF Pseudoxanthoma Elasticum ABCC6 SeSAME Syndrome Baraitser-Winter Syndrome, Type 1 ACTB Burn-McKeown Syndrome TXNL4A CYP11B1 IMAGE Syndrome CDKN1C Metaphyseal Chondrodysplasia, PTH1R Acro-Renal-Ocular Syndrome SALL4 FANCG Steroid sensitive, Congenital LAMB2 Arterial Calci cation, Generalized, Tumoral Calcinosis, FGF23 Cranioectodermal Dysplasia, IFT122 CYP11B2 Murk Jansen Type Senior-Loken Syndrome, CEP290 Bardet-Biedl Syndromes, ARL6 C3 Glomerulopathy C3 FANCI Interstitial Lung Disease with ITGA3 MAGI2 of Infancy, 2 Hyperphosphatemic Adenine Phosphoribosyltransferase APRT Type 1, 3 IFT43 KCNJ5 Type 4, 5, 6, 7 INVS Type 1-12, 14-18, 21 BBIP1 CFHR5 FANCL Nephrotic Syndrome and Methylmalonic Acidemia, Type mut0 MUT NPHS1 Thyrotoxic periodic paralysis, KCNJ18 De ciency Pulmonary Hypertension, Familial BMPR2 IQCB1 WDR19 FANCM Hypercalcemia Infantile, CYP24A1 Epidermolysis Bullosa NPHS2 BBS1 CFI Methylmalonic Aciduria and MMACHC Primary with or without Hereditary susceptibility to, Type 2 Alagille Syndrome, Type 1, 2 JAG1 Type 1, 2 SLC34A1 PLCE1 NPHP1 BBS10 CFH Currarino Syndrome MNX1 PALB2 Interstitial Nephritis, Karyomegalic FAN1 Homocystinuria, Type cblC PLCG2 Hemorrhagic Telangiectasia NPHP3 Type 1 Diabetes FOXP3 NOTCH2 BBS12 DGKE RAD51C Hypercalciuria, Hypophosphatemic ADCY10 CYP11A1 De ciency Syndrome CYP11A1 IPEX Syndrome FOXP3 NPHP4 INS BBS2 SLX4 Mevalonic Aciduria MVK PTPRO Pulmonary Hypertension, CAV1 Alkaptonuria HGD Congenital Anomalies of the Kidney BMP4 Rickets SLC34A3 Cystinosis CTNS Isolated Renal Hypoplasia PAX2 WT1 Primary 2, 3, 4 KCNK3 SDCCAG8 Urofacial Syndrome 1 HPSE2 BBS4 Fanconi Renotubular GATM Microphthalmia, syndromic 6 BMP4 Alport Syndrome COL4A3 and Urinary Tract (CAKUT) BMP7 Hyperglycinuria SLC6A19 SMAD9 WDR19 BBS5 Cystinuria SLC3A1 Neuro bromatosis, Type 1 NF1 VACTERL association with HOXD13 COL4A4 CHD1L Syndrome, Type 1, 2, 4 HNF4A SLC36A2 IVIC Syndrome SALL4 Mitochondrial Complex 3 De ciency BCS1L BBS7 SLC7A9 Pulmonary venoocclusive disease 1 BMPR2 SERKAL Syndrome WNT4 hydrocephalus COL4A5 CRKL SLC34A1 SLC6A20 UQCC2 Noonan Syndrome BRAF BBS9 Joubert Syndrome Type 3, 4, AHI1 GDNF Dent Disease CLCN5 PTPN11 Renal Agenesis RET Short Stature, Microcephaly, and XRCC4 Vasculitis, Autoin ammation, ADA2 Alstrom Syndrome ALMS1 C8ORF37 Fanconi-Bickel Syndrome SLC2A2 Hyperinsulinemic Hypoglycemia, ABCC8 5, 6, 10 with CEP290 Mitochondrial Complex 4 De ciency APOPT1 GREM1 OCRL Endocrine Dysfunction Immunode ciency, and CEP290 Diabetes Mellitus Oculoreneal Defect NPHP1 (COA8) Norum Disease LCAT Renal Cysts and Diabetes Syndrome HNF1B Amelogenesis Imperfecta, FAM20A ROBO2 Fechtner Syndrome MYH9 Denys-Drash Syndrome WT1 OFD1 COX10 Short-Rib Thoracic Dysplasia 5, 9, 10 IFT140 Hematologic Defects Syndrome Type 1G, 2A3 WDR72 LZTFL1 Hyperparathyroidism 2 CDC73 Obesity MC4R Renal Dysplasia, Cystic BICC1 Cardiofaciocutaneous Syndrome KRAS Feingold Syndrome MYCN TMEM67 IFT172 MKKS Diabetes Insipidus, Nephrogenic AQP2 COX14 UCP3 Vesicoureteral Re ux 3 SOX17 Amyloidosis APOA1 Floating-Harbor Syndrome SRCAP Hyperphenylalaninemia, PCBD1 COX20 Renal Glucosuria SLC5A1 WDR19 SDCCAG8 Carnitine Palmitoyltransferase 2 CPT2 AVPR2 Junctional Epidermolysis Bullosa- ITGA6 Vitamin D-Dependent Rickets, CYP27B1 APOC2 BH4-De cient Ochoa Syndrome HPSE2 SLC5A2 TRIM32 De ciency Focal Segmental ACTN4 Pyloric Atresia Syndrome ITGB4 COX6B1 Simpson-Golabi-Behmel Syndrome, GPC3 Diabetes insipidus, AVP Type 1A B2M TTC8 Hyperphosphatemic Familial GALNT3 COX8A Orofaciodigital Syndrome 6, I CPLANE1 Renal Hypertension SLC12A2 Type 1 Cataract, Juvenile, with Microcornia SLC16A12 Glomerulosclerosis, Type 2, 4, 5, ALG13 Kallmann Syndrome ANOS1 GSN WDPCP Neurohypophyseal GCK Tumoral Calcinosis FASTKD2 OFD1 Von Hippel-Lindau Syndrome VHL 6, 7 APOL1 FGFR1 Renal Hypodysplasia SIX2 Smith-Lemli-Opitz Syndrome DHCR7 LYZ and Glucosuria Diabetes Mellitus HNF1A PET100 Bartter Syndrome, BSND CD2AP Hyperphosphatemic Tumoral KL PROKR2 Pallister-Hall Syndrome GLI3 UPK3A Wilson Disease ATP7B TTR Cenani-Lenz Syndactyly Syndrome LRP4 PAX4 SCO1 Sneddon Syndrome ADA2 Type 1, 2, 3/4B, 4a CLCNKB INF2 Calcinosis Wiskott-Aldrich Syndrome WAS Kelley-Seegmiller Syndrome HPRT1 TACO1 Papillorenal Syndrome PAX2 Antley-Bixler Syndrome FGFR2 KCNJ1 Cerebral Creatine De ciency GATM Diabetes Mellitus, Juvenile-Onset PCBD1 MYO1E Hyperprolinemia, Type 1 PRODH Permanent Neonatal Diabetes INS Wolcott-Rallison Syndrome EIF2AK3 Apert Syndrome FGFR2 SLC12A1 Syndrome 3 Diabetes Mellitus, Neonatal, GLIS3 PAX2 Koolen-De Vries Syndrome KANSL1 Mitochondrial DNA Depletion RRM2B PMM2 Hyperuricemic Nephropathy REN Syndrome 8A Mellitus KCNJ11 Wolfram Syndrome Type 1, 2 CISD2 Beckwith-Wiedemann Syndrome CDKN1C Pulmonary Venoocclusive Disease 1 INF2 with Congenital Hypothyroidism LADD Syndrome FGF10 Apparent Mineralocorticoid Excess HSD11B2 SYNPO SARS2 WFS1 NSD1 Diabetes Mellitus, SLC2A2 FGFR2 Muckle-Wells Syndrome NLRP3 Pfeiffer Syndrome Type 3 FGFR2 CHARGE Syndrome CHD7 TRPC6 UMOD Arthrogryposis, Cleft Palate, PPP3CA Xanthinuria, Type 1, 2 MOCOS Beta-Hemoglobinopathies HBB SEMA3E Noninsulin-Dependent Lesch-Nyhan Syndrome HPRT1 Mullerian Aplasia and WNT4 Phosphoglycerate Kinase 1 PGK1 Craniosynostosis, and Fraser Syndrome FRAS1 Hypocalciuric Hypercalcemia, AP2S1 XDH Diamond-Blackfan Anemia, RPL11 Hyperandrogenism De ciency Impaired Intellectual Development Bi d Nose with or without Anorectal FREM1 CHILD Syndrome NSDHL FREM2 Familial CASR Liddle Syndrome, Type 1, 2 SCNN1B Type 1, 3-11 RPL26 SCNN1G Multicentric Carpotarsal Osteolysis MAFB Phosphoribosylpyrophosphate PRPS1 Atypical hemolytic uremic CFH and Renal Anomalies Chondrodysplasia Punctata EBP GRIP1 GNA11 RPL35A Synthetase Superactivity syndrome (aHUS) CFHR5 WT1 Lipodystrophy Congenital AGPAT2 with or without Nephropathy Birt-Hogg-Dube Syndrome FLCN Ciliopathies, RPGRIP1L-Related RPGRIP1L RPL5 Hypocalcemia CASR CFI Generalized, Type 1, 2, 3 BSCL2 Myoglobinuria, Acute Recurrent LPIN1 Pierson Syndrome LAMB2 Bladder Dysfunction, Autonomic, CHRNA3 RPS10 Galloway-Mowat Syndrome TP53RK Hypogonadotropic hypogonadism 1 ANOS1 THBD COACH Syndrome TMEM67 CAV1 RPS17 WDR73 Nail-Patella Syndrome LMX1B Plasminogen De ciency, Type 1 PLG DGKE with Impaired Pupillary Re ex and Hypokalemic Periodic Paralysis, CACNA1S Coenzyme Q10 De ciency, COQ2 RPS19 Lipodystrophy, Familial Partial, Type 7 CAV1 C3 Congenital Anomalies of the Kidney Genitopatellar Syndrome KAT6B Type 1, 2 SCN4A Nephrolithiasis CLCN5 Polycystic Kidney and/or ALG9 and Urinary Tract (CAKUT) Primary, Type 1, 2, 3, 6 COQ6 RPS24 PLG Gillessen Kaesbach Nishimura ALG9 Lipoid Adrenal Hyperplasia STAR FGF23 Polycystic Liver Disease GANAB PDSS1 RPS26 Syndrome (GIKANIS) SLC26A1 PDSS2 RPS7 Lipoprotein Glomerulopathy APOE
Genetic Conditions and Genes © 2021 Natera, Inc. All Rights Reserved. Condition Name Genes Condition Name Genes Condition Name Genes
Combined Oxidative Phosphorylation RMND1 Donnai-Barrow Syndrome LRP2 Gitelman Syndrome SLC12A3 Hypomagnesemia Type 1-6 CLDN16 LMNA-Related Disorders LMNA Nephrolithiasis/Osteoporosis, SLC34A1 Polycystic Kidney Disease (PKD), PKD1 Renal Tubular Acidosis ATP6V0A4 Sotos Syndrome 1 NSD1 Hypophosphatemic 1 and 2 SLC9A3R1 1 and 2, Autosomal Dominant PKD2 ATP6V1B1 De ciency, Type 11 Duane-Radial Ray Syndrome SALL4 Glomerulocystic Kidney Disease HNF1B CLDN19 Lowe Syndrome OCRL Steroid-Resistant Nephrotic ALG13 CNNM2 CA2 Complement Component 5 C5 REN Nephronophthisis 1–4, 7, 9, 11–13, ANKS6 Polycystic Kidney Disease, PKHD1 Syndrome SYNPO Eagle-Barrett Syndrome CHRM3 CNNM2 LRP5-Related Disorders LRP5 FOXI1 De ciency UMOD 15, 16, 19 CEP164 Autosomal Recessive Steroid-Resistant Nephrotic ARHGAP24 Ectrodactyly, Ectodermal Dysplasia, TP63 EGF Lymphedema-Distichiasis Syndrome FOXC2 SLC4A1 Glomerulopathy with Fibronectin FN1 DCDC2 Syndrome with Focal Complement Factor H, I De ciency CFH and Cleft Lip/Palate Syndrome 3 FXYD with Renal Disease and Polycystic Liver Disease (PLD), 1–3 ALG8 SLC4A4 Deposits 2 GLIS2 CFI KCNA1 Diabetes Mellitus PRKCSH WDR72 Segmental Hyalinosis Encephalocraniocutaneous FGFR1 INVS Glucocorticoid Resistance, NR3C1 TRPM6 SEC63 Congenital Adrenal Hyperplasia CYP11B1 Lipomatosis Lysinuric Protein Intolerance SLC7A7 NEK8 Renal Tubular Disease NEDD4L Sucrase-Isomaltase De ciency SI due to 3-Beta-Hydroxysteroid HSD3B2 Generalized Hypoparathyroidism, GCM2 NPHP1 Primary Hyperoxaluria Type 1, 2, 3 AGXT Epilepsy, Progressive Myoclonic, 4 SCARB2 Mandibulfacial Dysostosis with EDNRA Renal Tubular Dysgenesis ACE Susceptibility to End-Stage Renal APOL1 Dehydrogenase De ciency and Glycogen Storage Disease, G6PC Familial Isolated NPHP3 GRHPR with or without Renal Failure Alopecia AGT Disease 11-Beta-Hydroxylase De ciency Type 1A, 1B/1C, 11 LDHA NPHP4 HOGA1 Hypoparathyroidism, Sensorineural GATA3 AGTR1 Susceptibility to Gout ABCG2 Epstein Syndrome MYH9 Maturity Onset Diabetes of the BLK SLC41A1 Congenital Adrenal Hypoplasia with NR0B1 SLC37A4 Deafness, and Renal Dysplasia Prune Belly Syndrome CHRM3 REN Young (MODY), Type 2-4, 6-9, 11 CEL TMEM67 Susceptibility to Hypertension STK39 Hypogonadotropic Hypogonadism Fabry Disease GLA Golabi-Behmel Syndrome, Type 2 OFD1 Hypophosphatasia ALPL GCK Pseudohypoaldosteronism Type I, NR3C2 Renal-Hepatic-Pancreatic NEK8 TTC21B Systemic Lupus Erythematosus 16 DNASE1L3 Congenital Anomalies of the Kidney PBX1 Familial Cold-Induced In ammatory NLRP3 Autosomal Dominant Hypertension, Dysplasia 2 Hajdu-Cheney Syndrome NOTCH2 Hypophosphatemic Rickets CLCN5 HNF1A WDR19 and Urinary Tract Syndrome with or Syndrome, Type 1, 3 PLCG2 Early-Onset Thrombophilia due to THBD Hand-Foot-Uterus Syndrome HOXA13 DMP1 KLF11 XPNPEP3 Rickets due to Defect in Vitamin D CYP2R1 without Hearing Loss, Abnormal Ears, Thrombomodulin Defect Familial Dysautonomia, Hereditary ELP1 ENPP1 NEUROD1 Pseudohypoaldosteronism, CUL3 25-hydroxylation or Developmental Delay (CAKUTHED) Hartnup Disorder SLC6A19 Nephropathy due to CFHR5 CFHR5 Sensory and Autonomic Neuropathy PAX4 Type 1, 1B, 2B, 2C, 2D, 2E KLHL3 Thrombotic Thrombocytopenic ADAMTS13 FGF23 De ciency Robinow Syndrome ROR2 Congenital Disorder of Glycosylation, ALG1 Type 3 Hereditary Angiopathy with COL4A1 PDX1 SCNN1A Purpura, Familial PHEX WNT5A Type 1A, 1H, 1K, 1L ALG8 Nephropathy, Aneurysms and Nephropathy with Pretibial CD151 SCNN1B Familial Mediterranean Fever MEFV VDR Meckel Syndrome, Type 3,4,7 CEP290 Townes-Brocks Syndrome 1 SALL1 ALG9 Muscle Cramps (HANAC) Epidermolysis Bullosa and Deafness SCNN1G Rubinstein-Taybi Syndrome, Type 1 CREBBP Hypotrichosis-Lymphedema- SOX18 NPHP3 PMM2 Fanconi Anemia, Group A, B, C, FANCA Tuberous Sclerosis 1, 2 TSC1 Hereditary Renal Amyloidosis FGA TMEM67 Nephrotic Syndrome DLC1 WNK1 Scalp-Ear-Nipple Syndrome KCTD1 17-Alpha-Hydroxylase 17/20 CYP17A1 Autoin ammation, PLCG2 Branchiooculofacial Syndrome TFAP2A D2, E, F, G, I, L, M, N, O, P FANCB Telangiectasia-Renal Defect TSC2 Congenital Hyperinsulinism KCNJ11 ITSN2 WNK4 -Lyase De ciency Antibody De ciency, and FANCC Hermansky-Pudlak Syndrome 1 HPS1 Syndrome Medullary Cystic Kidney Disease UMOD Schimke Immunoosseous Dysplasia SMARCAL1 Branchio-Oto-Renal Syndrome, SIX1 KANK1 Pseudohypoparathyroidism Type 1B GNAS Tubulointerstitial Kidney Disease, HNF1B Immune Dysregulation Syndrome Cornelia de Lange Syndrome SMC1A FANCD2 Hypouricemia, Renal, Type 1, 2 SLC22A12 Megaloblastic Anemia 1 CUBN Seizures, Sensorineural Deafness, KCNJ10 5-Oxoprolinase De ciency OPLAH Type 1, 2 EYA1 Hyperaldosteronism, Familial, CACNA1H TNS2 STX16 Autosomal Dominant REN Axenfeld-Rieger Syndrome, Type 3 FOXC1 SIX5 Corticosterone Methyloxidase CYP11B2 FANCE SLC2A9 AMN Ataxia, Mental Retardation, and Acroosteolysis, Dominant NOTCH2 Type 1, 2, 3, 4 CLCN2 Nephrotic Syndrome Type 2-7, 15, DGKE UMOD De ciency FANCF Pseudoxanthoma Elasticum ABCC6 SeSAME Syndrome Baraitser-Winter Syndrome, Type 1 ACTB Burn-McKeown Syndrome TXNL4A CYP11B1 IMAGE Syndrome CDKN1C Metaphyseal Chondrodysplasia, PTH1R Acro-Renal-Ocular Syndrome SALL4 FANCG Steroid sensitive, Congenital LAMB2 Arterial Calci cation, Generalized, Tumoral Calcinosis, FGF23 Cranioectodermal Dysplasia, IFT122 CYP11B2 Murk Jansen Type Senior-Loken Syndrome, CEP290 Bardet-Biedl Syndromes, ARL6 C3 Glomerulopathy C3 FANCI Interstitial Lung Disease with ITGA3 MAGI2 of Infancy, 2 Hyperphosphatemic Adenine Phosphoribosyltransferase APRT Type 1, 3 IFT43 KCNJ5 NPHS1 Type 4, 5, 6, 7 INVS Type 1-12, 14-18, 21 BBIP1 CFHR5 FANCL Nephrotic Syndrome and Methylmalonic Acidemia, Type mut0 MUT Thyrotoxic periodic paralysis, KCNJ18 De ciency Pulmonary Hypertension, Familial BMPR2 IQCB1 WDR19 FANCM Hypercalcemia Infantile, CYP24A1 Epidermolysis Bullosa NPHS2 BBS1 CFI Methylmalonic Aciduria and MMACHC Primary with or without Hereditary susceptibility to, Type 2 Alagille Syndrome, Type 1, 2 JAG1 Type 1, 2 SLC34A1 PLCE1 NPHP1 BBS10 CFH Currarino Syndrome MNX1 PALB2 Interstitial Nephritis, Karyomegalic FAN1 Homocystinuria, Type cblC PLCG2 Hemorrhagic Telangiectasia NPHP3 Type 1 Diabetes FOXP3 NOTCH2 BBS12 DGKE RAD51C Hypercalciuria, Hypophosphatemic ADCY10 CYP11A1 De ciency Syndrome CYP11A1 NPHP4 INS SLX4 IPEX Syndrome FOXP3 Mevalonic Aciduria MVK PTPRO Pulmonary Hypertension, CAV1 Alkaptonuria HGD BBS2 Congenital Anomalies of the Kidney BMP4 Rickets SLC34A3 Cystinosis CTNS WT1 Primary 2, 3, 4 KCNK3 SDCCAG8 Urofacial Syndrome 1 HPSE2 BBS4 Fanconi Renotubular GATM Isolated Renal Hypoplasia PAX2 Microphthalmia, syndromic 6 BMP4 Alport Syndrome COL4A3 and Urinary Tract (CAKUT) BMP7 Hyperglycinuria SLC6A19 SMAD9 WDR19 BBS5 Cystinuria SLC3A1 Neuro bromatosis, Type 1 NF1 COL4A4 CHD1L Syndrome, Type 1, 2, 4 HNF4A SLC36A2 IVIC Syndrome SALL4 Mitochondrial Complex 3 De ciency BCS1L VACTERL association with HOXD13 BBS7 SLC7A9 Pulmonary venoocclusive disease 1 BMPR2 SERKAL Syndrome WNT4 COL4A5 CRKL SLC34A1 SLC6A20 UQCC2 Noonan Syndrome BRAF hydrocephalus BBS9 Joubert Syndrome Type 3, 4, AHI1 GDNF Dent Disease CLCN5 PTPN11 Renal Agenesis RET Short Stature, Microcephaly, and XRCC4 Alstrom Syndrome ALMS1 Fanconi-Bickel Syndrome SLC2A2 Hyperinsulinemic Hypoglycemia, ABCC8 5, 6, 10 with CEP290 Mitochondrial Complex 4 De ciency APOPT1 Vasculitis, Autoin ammation, ADA2 C8ORF37 GREM1 Endocrine Dysfunction OCRL Diabetes Mellitus Oculoreneal Defect NPHP1 (COA8) Norum Disease LCAT Renal Cysts and Diabetes Syndrome HNF1B Immunode ciency, and Amelogenesis Imperfecta, FAM20A CEP290 ROBO2 Fechtner Syndrome MYH9 Denys-Drash Syndrome WT1 OFD1 COX10 Short-Rib Thoracic Dysplasia 5, 9, 10 IFT140 Hematologic Defects Syndrome Type 1G, 2A3 WDR72 LZTFL1 Hyperparathyroidism 2 CDC73 Obesity MC4R Renal Dysplasia, Cystic BICC1 Cardiofaciocutaneous Syndrome KRAS Feingold Syndrome MYCN TMEM67 IFT172 MKKS COX14 UCP3 Vesicoureteral Re ux 3 SOX17 Diabetes Insipidus, Nephrogenic AQP2 Hyperphenylalaninemia, PCBD1 Amyloidosis APOA1 SDCCAG8 Floating-Harbor Syndrome SRCAP COX20 Renal Glucosuria SLC5A1 WDR19 Carnitine Palmitoyltransferase 2 CPT2 AVPR2 Junctional Epidermolysis Bullosa- ITGA6 Vitamin D-Dependent Rickets, CYP27B1 APOC2 BH4-De cient COX6B1 Ochoa Syndrome HPSE2 SLC5A2 TRIM32 De ciency Focal Segmental ACTN4 Pyloric Atresia Syndrome ITGB4 Simpson-Golabi-Behmel Syndrome, GPC3 Diabetes insipidus, AVP Type 1A B2M TTC8 Hyperphosphatemic Familial GALNT3 COX8A Orofaciodigital Syndrome 6, I CPLANE1 Renal Hypertension SLC12A2 Type 1 Cataract, Juvenile, with Microcornia SLC16A12 Glomerulosclerosis, Type 2, 4, 5, ALG13 Kallmann Syndrome ANOS1 GSN WDPCP Neurohypophyseal GCK Tumoral Calcinosis FASTKD2 OFD1 Von Hippel-Lindau Syndrome VHL 6, 7 APOL1 Renal Hypodysplasia SIX2 Smith-Lemli-Opitz Syndrome DHCR7 LYZ and Glucosuria Diabetes Mellitus HNF1A FGFR1 PET100 Bartter Syndrome, BSND CD2AP Hyperphosphatemic Tumoral KL PROKR2 Pallister-Hall Syndrome GLI3 UPK3A Wilson Disease ATP7B TTR Cenani-Lenz Syndactyly Syndrome LRP4 PAX4 SCO1 Sneddon Syndrome ADA2 Type 1, 2, 3/4B, 4a CLCNKB INF2 Calcinosis Kelley-Seegmiller Syndrome HPRT1 TACO1 Papillorenal Syndrome PAX2 Wiskott-Aldrich Syndrome WAS Antley-Bixler Syndrome FGFR2 KCNJ1 Cerebral Creatine De ciency GATM Diabetes Mellitus, Juvenile-Onset PCBD1 MYO1E Hyperprolinemia, Type 1 PRODH Permanent Neonatal Diabetes INS Wolcott-Rallison Syndrome EIF2AK3 Apert Syndrome FGFR2 SLC12A1 Syndrome 3 Diabetes Mellitus, Neonatal, GLIS3 PAX2 Koolen-De Vries Syndrome KANSL1 Mitochondrial DNA Depletion RRM2B with Congenital Hypothyroidism PMM2 Hyperuricemic Nephropathy REN Syndrome 8A Mellitus KCNJ11 Wolfram Syndrome Type 1, 2 CISD2 Apparent Mineralocorticoid Excess HSD11B2 Beckwith-Wiedemann Syndrome CDKN1C Pulmonary Venoocclusive Disease 1 INF2 LADD Syndrome FGF10 SYNPO SARS2 WFS1 NSD1 Diabetes Mellitus, SLC2A2 FGFR2 Muckle-Wells Syndrome NLRP3 Pfeiffer Syndrome Type 3 FGFR2 Arthrogryposis, Cleft Palate, PPP3CA CHARGE Syndrome CHD7 TRPC6 UMOD Noninsulin-Dependent Phosphoglycerate Kinase 1 PGK1 Xanthinuria, Type 1, 2 MOCOS Craniosynostosis, and Beta-Hemoglobinopathies HBB SEMA3E Lesch-Nyhan Syndrome HPRT1 Mullerian Aplasia and WNT4 Fraser Syndrome FRAS1 Hypocalciuric Hypercalcemia, AP2S1 XDH Diamond-Blackfan Anemia, RPL11 Hyperandrogenism De ciency Impaired Intellectual Development Bi d Nose with or without Anorectal FREM1 CHILD Syndrome NSDHL FREM2 Familial CASR Liddle Syndrome, Type 1, 2 SCNN1B Type 1, 3-11 RPL26 SCNN1G Multicentric Carpotarsal Osteolysis MAFB Phosphoribosylpyrophosphate PRPS1 Atypical hemolytic uremic CFH and Renal Anomalies Chondrodysplasia Punctata EBP GRIP1 GNA11 RPL35A with or without Nephropathy Synthetase Superactivity syndrome (aHUS) CFHR5 WT1 Lipodystrophy Congenital AGPAT2 Birt-Hogg-Dube Syndrome FLCN Ciliopathies, RPGRIP1L-Related RPGRIP1L RPL5 Hypocalcemia CASR CFI Generalized, Type 1, 2, 3 BSCL2 Myoglobinuria, Acute Recurrent LPIN1 Pierson Syndrome LAMB2 Bladder Dysfunction, Autonomic, CHRNA3 RPS10 Galloway-Mowat Syndrome TP53RK Hypogonadotropic hypogonadism 1 ANOS1 THBD COACH Syndrome TMEM67 CAV1 with Impaired Pupillary Re ex and RPS17 WDR73 Nail-Patella Syndrome LMX1B Plasminogen De ciency, Type 1 PLG DGKE Coenzyme Q10 De ciency, COQ2 Hypokalemic Periodic Paralysis, CACNA1S Congenital Anomalies of the Kidney RPS19 Genitopatellar Syndrome KAT6B Lipodystrophy, Familial Partial, Type 7 CAV1 Nephrolithiasis CLCN5 Polycystic Kidney and/or ALG9 C3 Primary, Type 1, 2, 3, 6 COQ6 Type 1, 2 SCN4A and Urinary Tract (CAKUT) RPS24 Polycystic Liver Disease GANAB PLG Gillessen Kaesbach Nishimura ALG9 Lipoid Adrenal Hyperplasia STAR FGF23 PDSS1 RPS26 Syndrome (GIKANIS) SLC26A1 PDSS2 RPS7 Lipoprotein Glomerulopathy APOE
Genetic Conditions and Genes © 2021 Natera, Inc. All Rights Reserved. Condition Name Genes Condition Name Genes Condition Name Genes
Combined Oxidative Phosphorylation RMND1 Donnai-Barrow Syndrome LRP2 Gitelman Syndrome SLC12A3 Hypomagnesemia Type 1-6 CLDN16 LMNA-Related Disorders LMNA Nephrolithiasis/Osteoporosis, SLC34A1 Polycystic Kidney Disease (PKD), PKD1 Renal Tubular Acidosis ATP6V0A4 Sotos Syndrome 1 NSD1 De ciency, Type 11 Hypophosphatemic 1 and 2 SLC9A3R1 Duane-Radial Ray Syndrome SALL4 Glomerulocystic Kidney Disease HNF1B CLDN19 Lowe Syndrome OCRL 1 and 2, Autosomal Dominant PKD2 ATP6V1B1 Steroid-Resistant Nephrotic ALG13 Complement Component 5 C5 REN CNNM2 Nephronophthisis 1–4, 7, 9, 11–13, ANKS6 CA2 Syndrome SYNPO Eagle-Barrett Syndrome CHRM3 LRP5-Related Disorders LRP5 Polycystic Kidney Disease, PKHD1 De ciency UMOD CNNM2 15, 16, 19 CEP164 FOXI1 Autosomal Recessive Steroid-Resistant Nephrotic ARHGAP24 Ectrodactyly, Ectodermal Dysplasia, TP63 EGF Lymphedema-Distichiasis Syndrome FOXC2 DCDC2 SLC4A1 Complement Factor H, I De ciency CFH Glomerulopathy with Fibronectin FN1 Polycystic Liver Disease (PLD), 1–3 ALG8 Syndrome with Focal and Cleft Lip/Palate Syndrome 3 FXYD with Renal Disease and GLIS2 SLC4A4 CFI Deposits 2 KCNA1 PRKCSH WDR72 Segmental Hyalinosis Encephalocraniocutaneous FGFR1 Diabetes Mellitus INVS Congenital Adrenal Hyperplasia CYP11B1 Glucocorticoid Resistance, NR3C1 TRPM6 SEC63 Sucrase-Isomaltase De ciency SI Lipomatosis Lysinuric Protein Intolerance SLC7A7 NEK8 Renal Tubular Disease NEDD4L due to 3-Beta-Hydroxysteroid HSD3B2 Generalized Hypoparathyroidism, GCM2 NPHP1 Primary Hyperoxaluria Type 1, 2, 3 AGXT Susceptibility to End-Stage Renal APOL1 Dehydrogenase De ciency and Epilepsy, Progressive Myoclonic, 4 SCARB2 Mandibulfacial Dysostosis with EDNRA Renal Tubular Dysgenesis ACE Glycogen Storage Disease, G6PC Familial Isolated NPHP3 GRHPR Disease with or without Renal Failure Alopecia AGT 11-Beta-Hydroxylase De ciency Type 1A, 1B/1C, 11 LDHA NPHP4 HOGA1 Hypoparathyroidism, Sensorineural GATA3 AGTR1 Susceptibility to Gout ABCG2 Epstein Syndrome MYH9 Maturity Onset Diabetes of the BLK SLC41A1 Congenital Adrenal Hypoplasia with NR0B1 SLC37A4 Deafness, and Renal Dysplasia Prune Belly Syndrome CHRM3 REN Hypogonadotropic Hypogonadism Fabry Disease GLA Young (MODY), Type 2-4, 6-9, 11 CEL TMEM67 Susceptibility to Hypertension STK39 Golabi-Behmel Syndrome, Type 2 OFD1 Hypophosphatasia ALPL Pseudohypoaldosteronism Type I, NR3C2 Renal-Hepatic-Pancreatic NEK8 GCK TTC21B Systemic Lupus Erythematosus 16 DNASE1L3 Congenital Anomalies of the Kidney PBX1 Familial Cold-Induced In ammatory NLRP3 Autosomal Dominant Hypertension, Dysplasia 2 Hajdu-Cheney Syndrome NOTCH2 Hypophosphatemic Rickets CLCN5 HNF1A WDR19 and Urinary Tract Syndrome with or Syndrome, Type 1, 3 PLCG2 Early-Onset Thrombophilia due to THBD Hand-Foot-Uterus Syndrome HOXA13 DMP1 KLF11 XPNPEP3 Rickets due to Defect in Vitamin D CYP2R1 without Hearing Loss, Abnormal Ears, Thrombomodulin Defect Familial Dysautonomia, Hereditary ELP1 ENPP1 NEUROD1 Pseudohypoaldosteronism, CUL3 25-hydroxylation or Developmental Delay (CAKUTHED) Hartnup Disorder SLC6A19 Nephropathy due to CFHR5 CFHR5 Sensory and Autonomic Neuropathy PAX4 Type 1, 1B, 2B, 2C, 2D, 2E KLHL3 Thrombotic Thrombocytopenic ADAMTS13 FGF23 De ciency Robinow Syndrome ROR2 Congenital Disorder of Glycosylation, ALG1 Type 3 Hereditary Angiopathy with COL4A1 PDX1 SCNN1A Purpura, Familial PHEX WNT5A Type 1A, 1H, 1K, 1L ALG8 Nephropathy, Aneurysms and Nephropathy with Pretibial CD151 Familial Mediterranean Fever MEFV VDR Meckel Syndrome, Type 3,4,7 CEP290 SCNN1B Townes-Brocks Syndrome 1 SALL1 ALG9 Epidermolysis Bullosa and Deafness Muscle Cramps (HANAC) NPHP3 SCNN1G Rubinstein-Taybi Syndrome, Type 1 CREBBP PMM2 Fanconi Anemia, Group A, B, C, FANCA Hypotrichosis-Lymphedema- SOX18 Tuberous Sclerosis 1, 2 TSC1 Hereditary Renal Amyloidosis FGA TMEM67 Nephrotic Syndrome DLC1 WNK1 Scalp-Ear-Nipple Syndrome KCTD1 17-Alpha-Hydroxylase 17/20 CYP17A1 Autoin ammation, PLCG2 Branchiooculofacial Syndrome TFAP2A D2, E, F, G, I, L, M, N, O, P FANCB Telangiectasia-Renal Defect TSC2 Congenital Hyperinsulinism KCNJ11 ITSN2 WNK4 -Lyase De ciency Antibody De ciency, and FANCC Hermansky-Pudlak Syndrome 1 HPS1 Syndrome Medullary Cystic Kidney Disease UMOD Schimke Immunoosseous Dysplasia SMARCAL1 Branchio-Oto-Renal Syndrome, SIX1 KANK1 Tubulointerstitial Kidney Disease, HNF1B Immune Dysregulation Syndrome Cornelia de Lange Syndrome SMC1A Pseudohypoparathyroidism Type 1B GNAS 5-Oxoprolinase De ciency OPLAH Type 1, 2 EYA1 FANCD2 Hypouricemia, Renal, Type 1, 2 SLC22A12 Megaloblastic Anemia 1 CUBN Seizures, Sensorineural Deafness, KCNJ10 Hyperaldosteronism, Familial, CACNA1H TNS2 STX16 Autosomal Dominant REN Axenfeld-Rieger Syndrome, Type 3 FOXC1 SIX5 Corticosterone Methyloxidase CYP11B2 FANCE SLC2A9 AMN Ataxia, Mental Retardation, and Acroosteolysis, Dominant NOTCH2 Type 1, 2, 3, 4 CLCN2 Nephrotic Syndrome Type 2-7, 15, DGKE UMOD De ciency FANCF Pseudoxanthoma Elasticum ABCC6 SeSAME Syndrome Baraitser-Winter Syndrome, Type 1 ACTB Burn-McKeown Syndrome TXNL4A CYP11B1 IMAGE Syndrome CDKN1C Metaphyseal Chondrodysplasia, PTH1R Acro-Renal-Ocular Syndrome SALL4 FANCG Steroid sensitive, Congenital LAMB2 Arterial Calci cation, Generalized, Tumoral Calcinosis, FGF23 Cranioectodermal Dysplasia, IFT122 CYP11B2 Murk Jansen Type Senior-Loken Syndrome, CEP290 Bardet-Biedl Syndromes, ARL6 C3 Glomerulopathy C3 FANCI Interstitial Lung Disease with ITGA3 MAGI2 of Infancy, 2 Hyperphosphatemic Adenine Phosphoribosyltransferase APRT Type 1, 3 IFT43 KCNJ5 NPHS1 Type 4, 5, 6, 7 INVS Type 1-12, 14-18, 21 BBIP1 CFHR5 FANCL Nephrotic Syndrome and Methylmalonic Acidemia, Type mut0 MUT Thyrotoxic periodic paralysis, KCNJ18 De ciency WDR19 Hypercalcemia Infantile, CYP24A1 NPHS2 Pulmonary Hypertension, Familial BMPR2 IQCB1 BBS1 CFI FANCM Epidermolysis Bullosa susceptibility to, Type 2 Methylmalonic Aciduria and MMACHC Primary with or without Hereditary NPHP1 Alagille Syndrome, Type 1, 2 JAG1 BBS10 CFH Currarino Syndrome MNX1 PALB2 Type 1, 2 SLC34A1 PLCE1 Interstitial Nephritis, Karyomegalic FAN1 Homocystinuria, Type cblC Hemorrhagic Telangiectasia Type 1 Diabetes FOXP3 NOTCH2 RAD51C PLCG2 NPHP3 BBS12 DGKE CYP11A1 De ciency Syndrome CYP11A1 Hypercalciuria, Hypophosphatemic ADCY10 IPEX Syndrome FOXP3 Mevalonic Aciduria MVK PTPRO Pulmonary Hypertension, CAV1 NPHP4 INS Alkaptonuria HGD BBS2 SLX4 Rickets SLC34A3 Congenital Anomalies of the Kidney BMP4 Cystinosis CTNS WT1 SDCCAG8 BBS4 Isolated Renal Hypoplasia PAX2 Microphthalmia, syndromic 6 BMP4 Primary 2, 3, 4 KCNK3 Urofacial Syndrome 1 HPSE2 Alport Syndrome COL4A3 and Urinary Tract (CAKUT) BMP7 Fanconi Renotubular GATM Hyperglycinuria SLC6A19 WDR19 BBS5 Cystinuria SLC3A1 Neuro bromatosis, Type 1 NF1 SMAD9 COL4A4 CHD1L Syndrome, Type 1, 2, 4 HNF4A SLC36A2 IVIC Syndrome SALL4 Mitochondrial Complex 3 De ciency BCS1L VACTERL association with HOXD13 BBS7 SLC7A9 Pulmonary venoocclusive disease 1 BMPR2 SERKAL Syndrome WNT4 COL4A5 CRKL SLC34A1 SLC6A20 UQCC2 Noonan Syndrome BRAF hydrocephalus BBS9 Joubert Syndrome Type 3, 4, AHI1 GDNF Dent Disease CLCN5 PTPN11 Renal Agenesis RET Short Stature, Microcephaly, and XRCC4 Vasculitis, Autoin ammation, ADA2 Alstrom Syndrome ALMS1 C8ORF37 Fanconi-Bickel Syndrome SLC2A2 Hyperinsulinemic Hypoglycemia, ABCC8 5, 6, 10 with CEP290 Mitochondrial Complex 4 De ciency APOPT1 GREM1 OCRL Endocrine Dysfunction Diabetes Mellitus Oculoreneal Defect NPHP1 (COA8) Norum Disease LCAT Renal Cysts and Diabetes Syndrome HNF1B Immunode ciency, and Amelogenesis Imperfecta, FAM20A CEP290 ROBO2 Fechtner Syndrome MYH9 Denys-Drash Syndrome WT1 OFD1 COX10 Short-Rib Thoracic Dysplasia 5, 9, 10 IFT140 Hematologic Defects Syndrome Type 1G, 2A3 WDR72 LZTFL1 Hyperparathyroidism 2 CDC73 Obesity MC4R Renal Dysplasia, Cystic BICC1 Cardiofaciocutaneous Syndrome KRAS Feingold Syndrome MYCN TMEM67 IFT172 MKKS Diabetes Insipidus, Nephrogenic AQP2 COX14 UCP3 Vesicoureteral Re ux 3 SOX17 Amyloidosis APOA1 Floating-Harbor Syndrome SRCAP Hyperphenylalaninemia, PCBD1 Renal Glucosuria SLC5A1 WDR19 SDCCAG8 Carnitine Palmitoyltransferase 2 CPT2 AVPR2 Junctional Epidermolysis Bullosa- ITGA6 COX20 APOC2 BH4-De cient Ochoa Syndrome HPSE2 SLC5A2 Vitamin D-Dependent Rickets, CYP27B1 TRIM32 De ciency Focal Segmental ACTN4 Pyloric Atresia Syndrome ITGB4 COX6B1 Simpson-Golabi-Behmel Syndrome, GPC3 B2M Diabetes insipidus, AVP Type 1A TTC8 Glomerulosclerosis, Type 2, 4, 5, ALG13 Hyperphosphatemic Familial GALNT3 COX8A Orofaciodigital Syndrome 6, I CPLANE1 Renal Hypertension SLC12A2 Type 1 Cataract, Juvenile, with Microcornia SLC16A12 Neurohypophyseal GCK Kallmann Syndrome ANOS1 GSN WDPCP Tumoral Calcinosis FASTKD2 OFD1 Von Hippel-Lindau Syndrome VHL 6, 7 APOL1 Renal Hypodysplasia SIX2 LYZ and Glucosuria Diabetes Mellitus HNF1A FGFR1 PET100 Smith-Lemli-Opitz Syndrome DHCR7 Bartter Syndrome, BSND CD2AP Hyperphosphatemic Tumoral KL PROKR2 Pallister-Hall Syndrome GLI3 UPK3A Wilson Disease ATP7B TTR Cenani-Lenz Syndactyly Syndrome LRP4 PAX4 SCO1 Sneddon Syndrome ADA2 Type 1, 2, 3/4B, 4a CLCNKB INF2 Calcinosis Wiskott-Aldrich Syndrome WAS Diabetes Mellitus, Juvenile-Onset PCBD1 Kelley-Seegmiller Syndrome HPRT1 TACO1 Papillorenal Syndrome PAX2 Antley-Bixler Syndrome FGFR2 KCNJ1 Cerebral Creatine De ciency GATM MYO1E Hyperprolinemia, Type 1 PRODH Permanent Neonatal Diabetes INS Wolcott-Rallison Syndrome EIF2AK3 Apert Syndrome FGFR2 SLC12A1 Syndrome 3 Diabetes Mellitus, Neonatal, GLIS3 PAX2 Koolen-De Vries Syndrome KANSL1 Mitochondrial DNA Depletion RRM2B with Congenital Hypothyroidism PMM2 Hyperuricemic Nephropathy REN Syndrome 8A Mellitus KCNJ11 Wolfram Syndrome Type 1, 2 CISD2 Apparent Mineralocorticoid Excess HSD11B2 Beckwith-Wiedemann Syndrome CDKN1C Pulmonary Venoocclusive Disease 1 INF2 LADD Syndrome FGF10 SYNPO SARS2 WFS1 NSD1 Diabetes Mellitus, SLC2A2 FGFR2 Muckle-Wells Syndrome NLRP3 Pfeiffer Syndrome Type 3 FGFR2 Arthrogryposis, Cleft Palate, PPP3CA CHARGE Syndrome CHD7 TRPC6 UMOD Noninsulin-Dependent Phosphoglycerate Kinase 1 PGK1 Xanthinuria, Type 1, 2 MOCOS Craniosynostosis, and Beta-Hemoglobinopathies HBB SEMA3E Lesch-Nyhan Syndrome HPRT1 Mullerian Aplasia and WNT4 Fraser Syndrome FRAS1 Hypocalciuric Hypercalcemia, AP2S1 XDH Diamond-Blackfan Anemia, RPL11 Hyperandrogenism De ciency Impaired Intellectual Development Bi d Nose with or without Anorectal FREM1 CHILD Syndrome NSDHL FREM2 Familial CASR Liddle Syndrome, Type 1, 2 SCNN1B Type 1, 3-11 RPL26 SCNN1G Multicentric Carpotarsal Osteolysis MAFB Phosphoribosylpyrophosphate PRPS1 Atypical hemolytic uremic CFH and Renal Anomalies Chondrodysplasia Punctata EBP GRIP1 GNA11 RPL35A with or without Nephropathy Synthetase Superactivity syndrome (aHUS) CFHR5 WT1 Lipodystrophy Congenital AGPAT2 Birt-Hogg-Dube Syndrome FLCN Ciliopathies, RPGRIP1L-Related RPGRIP1L RPL5 Hypocalcemia CASR CFI Generalized, Type 1, 2, 3 BSCL2 Myoglobinuria, Acute Recurrent LPIN1 Pierson Syndrome LAMB2 Bladder Dysfunction, Autonomic, CHRNA3 RPS10 Galloway-Mowat Syndrome TP53RK Hypogonadotropic hypogonadism 1 ANOS1 THBD COACH Syndrome TMEM67 CAV1 with Impaired Pupillary Re ex and RPS17 WDR73 Nail-Patella Syndrome LMX1B Plasminogen De ciency, Type 1 PLG DGKE Hypokalemic Periodic Paralysis, CACNA1S Congenital Anomalies of the Kidney Coenzyme Q10 De ciency, COQ2 RPS19 Lipodystrophy, Familial Partial, Type 7 CAV1 C3 Genitopatellar Syndrome KAT6B Type 1, 2 SCN4A Nephrolithiasis CLCN5 Polycystic Kidney and/or ALG9 and Urinary Tract (CAKUT) Primary, Type 1, 2, 3, 6 COQ6 RPS24 PLG Gillessen Kaesbach Nishimura ALG9 Lipoid Adrenal Hyperplasia STAR FGF23 Polycystic Liver Disease GANAB PDSS1 RPS26 Syndrome (GIKANIS) SLC26A1 PDSS2 RPS7 Lipoprotein Glomerulopathy APOE
Genetic Conditions and Genes © 2021 Natera, Inc. All Rights Reserved. Condition Name Genes Condition Name Genes Condition Name Genes
Combined Oxidative Phosphorylation RMND1 Donnai-Barrow Syndrome LRP2 Gitelman Syndrome SLC12A3 Hypomagnesemia Type 1-6 CLDN16 LMNA-Related Disorders LMNA Nephrolithiasis/Osteoporosis, SLC34A1 Polycystic Kidney Disease (PKD), PKD1 Renal Tubular Acidosis ATP6V0A4 Sotos Syndrome 1 NSD1 De ciency, Type 11 Hypophosphatemic 1 and 2 SLC9A3R1 Duane-Radial Ray Syndrome SALL4 Glomerulocystic Kidney Disease HNF1B CLDN19 Lowe Syndrome OCRL 1 and 2, Autosomal Dominant PKD2 ATP6V1B1 Steroid-Resistant Nephrotic ALG13 Complement Component 5 C5 REN CNNM2 Nephronophthisis 1–4, 7, 9, 11–13, ANKS6 CA2 Syndrome SYNPO Eagle-Barrett Syndrome CHRM3 LRP5-Related Disorders LRP5 Polycystic Kidney Disease, PKHD1 De ciency UMOD CNNM2 15, 16, 19 CEP164 FOXI1 Autosomal Recessive Steroid-Resistant Nephrotic ARHGAP24 Ectrodactyly, Ectodermal Dysplasia, TP63 EGF Lymphedema-Distichiasis Syndrome FOXC2 DCDC2 SLC4A1 Complement Factor H, I De ciency CFH Glomerulopathy with Fibronectin FN1 Syndrome with Focal and Cleft Lip/Palate Syndrome 3 FXYD with Renal Disease and GLIS2 Polycystic Liver Disease (PLD), 1–3 ALG8 SLC4A4 CFI Deposits 2 KCNA1 PRKCSH WDR72 Segmental Hyalinosis Encephalocraniocutaneous FGFR1 Diabetes Mellitus INVS Congenital Adrenal Hyperplasia CYP11B1 Glucocorticoid Resistance, NR3C1 TRPM6 SEC63 Sucrase-Isomaltase De ciency SI Lipomatosis Lysinuric Protein Intolerance SLC7A7 NEK8 Renal Tubular Disease NEDD4L due to 3-Beta-Hydroxysteroid HSD3B2 Generalized Hypoparathyroidism, GCM2 NPHP1 Primary Hyperoxaluria Type 1, 2, 3 AGXT Susceptibility to End-Stage Renal APOL1 Dehydrogenase De ciency and Epilepsy, Progressive Myoclonic, 4 SCARB2 Mandibulfacial Dysostosis with EDNRA Renal Tubular Dysgenesis ACE Glycogen Storage Disease, G6PC Familial Isolated NPHP3 GRHPR Disease with or without Renal Failure Alopecia AGT 11-Beta-Hydroxylase De ciency Type 1A, 1B/1C, 11 LDHA NPHP4 HOGA1 Hypoparathyroidism, Sensorineural GATA3 AGTR1 Susceptibility to Gout ABCG2 Epstein Syndrome MYH9 Maturity Onset Diabetes of the BLK SLC41A1 Congenital Adrenal Hypoplasia with NR0B1 SLC37A4 Deafness, and Renal Dysplasia Prune Belly Syndrome CHRM3 REN Hypogonadotropic Hypogonadism Fabry Disease GLA Young (MODY), Type 2-4, 6-9, 11 CEL TMEM67 Susceptibility to Hypertension STK39 Golabi-Behmel Syndrome, Type 2 OFD1 Hypophosphatasia ALPL Pseudohypoaldosteronism Type I, NR3C2 Renal-Hepatic-Pancreatic NEK8 GCK TTC21B Systemic Lupus Erythematosus 16 DNASE1L3 Congenital Anomalies of the Kidney PBX1 Familial Cold-Induced In ammatory NLRP3 Autosomal Dominant Hypertension, Dysplasia 2 Hajdu-Cheney Syndrome NOTCH2 Hypophosphatemic Rickets CLCN5 HNF1A WDR19 and Urinary Tract Syndrome with or Syndrome, Type 1, 3 PLCG2 Early-Onset Thrombophilia due to THBD Hand-Foot-Uterus Syndrome HOXA13 DMP1 KLF11 XPNPEP3 Rickets due to Defect in Vitamin D CYP2R1 without Hearing Loss, Abnormal Ears, Thrombomodulin Defect Familial Dysautonomia, Hereditary ELP1 ENPP1 NEUROD1 Pseudohypoaldosteronism, CUL3 25-hydroxylation or Developmental Delay (CAKUTHED) Hartnup Disorder SLC6A19 Nephropathy due to CFHR5 CFHR5 Sensory and Autonomic Neuropathy PAX4 Type 1, 1B, 2B, 2C, 2D, 2E KLHL3 Thrombotic Thrombocytopenic ADAMTS13 FGF23 De ciency Robinow Syndrome ROR2 Congenital Disorder of Glycosylation, ALG1 Type 3 Hereditary Angiopathy with COL4A1 PDX1 SCNN1A Purpura, Familial PHEX WNT5A Type 1A, 1H, 1K, 1L ALG8 Nephropathy, Aneurysms and Nephropathy with Pretibial CD151 Familial Mediterranean Fever MEFV VDR Meckel Syndrome, Type 3,4,7 CEP290 SCNN1B Townes-Brocks Syndrome 1 SALL1 ALG9 Epidermolysis Bullosa and Deafness Muscle Cramps (HANAC) NPHP3 SCNN1G Rubinstein-Taybi Syndrome, Type 1 CREBBP PMM2 Fanconi Anemia, Group A, B, C, FANCA Hypotrichosis-Lymphedema- SOX18 Tuberous Sclerosis 1, 2 TSC1 Hereditary Renal Amyloidosis FGA TMEM67 Nephrotic Syndrome DLC1 WNK1 Scalp-Ear-Nipple Syndrome KCTD1 17-Alpha-Hydroxylase 17/20 CYP17A1 Autoin ammation, PLCG2 Branchiooculofacial Syndrome TFAP2A D2, E, F, G, I, L, M, N, O, P FANCB Telangiectasia-Renal Defect TSC2 Congenital Hyperinsulinism KCNJ11 ITSN2 WNK4 -Lyase De ciency Antibody De ciency, and FANCC Hermansky-Pudlak Syndrome 1 HPS1 Syndrome Medullary Cystic Kidney Disease UMOD Schimke Immunoosseous Dysplasia SMARCAL1 Branchio-Oto-Renal Syndrome, SIX1 KANK1 Tubulointerstitial Kidney Disease, HNF1B Immune Dysregulation Syndrome Cornelia de Lange Syndrome SMC1A Pseudohypoparathyroidism Type 1B GNAS 5-Oxoprolinase De ciency OPLAH Type 1, 2 EYA1 FANCD2 Hypouricemia, Renal, Type 1, 2 SLC22A12 Megaloblastic Anemia 1 CUBN TNS2 Seizures, Sensorineural Deafness, KCNJ10 Hyperaldosteronism, Familial, CACNA1H STX16 Autosomal Dominant REN Axenfeld-Rieger Syndrome, Type 3 FOXC1 SIX5 Corticosterone Methyloxidase CYP11B2 FANCE SLC2A9 AMN Ataxia, Mental Retardation, and Acroosteolysis, Dominant NOTCH2 Type 1, 2, 3, 4 CLCN2 Nephrotic Syndrome Type 2-7, 15, DGKE UMOD De ciency FANCF Pseudoxanthoma Elasticum ABCC6 SeSAME Syndrome Baraitser-Winter Syndrome, Type 1 ACTB Burn-McKeown Syndrome TXNL4A CYP11B1 IMAGE Syndrome CDKN1C Metaphyseal Chondrodysplasia, PTH1R Steroid sensitive, Congenital LAMB2 Acro-Renal-Ocular Syndrome SALL4 FANCG Arterial Calci cation, Generalized, Tumoral Calcinosis, FGF23 Cranioectodermal Dysplasia, IFT122 CYP11B2 Murk Jansen Type MAGI2 Senior-Loken Syndrome, CEP290 Bardet-Biedl Syndromes, ARL6 C3 Glomerulopathy C3 FANCI Interstitial Lung Disease with ITGA3 of Infancy, 2 Hyperphosphatemic Adenine Phosphoribosyltransferase APRT Type 1, 3 IFT43 KCNJ5 NPHS1 Type 4, 5, 6, 7 INVS Type 1-12, 14-18, 21 BBIP1 CFHR5 FANCL Nephrotic Syndrome and Methylmalonic Acidemia, Type mut0 MUT Thyrotoxic periodic paralysis, KCNJ18 De ciency WDR19 Hypercalcemia Infantile, CYP24A1 NPHS2 Pulmonary Hypertension, Familial BMPR2 IQCB1 BBS1 CFI FANCM Epidermolysis Bullosa susceptibility to, Type 2 Methylmalonic Aciduria and MMACHC Primary with or without Hereditary NPHP1 Alagille Syndrome, Type 1, 2 JAG1 BBS10 CFH Currarino Syndrome MNX1 PALB2 Type 1, 2 SLC34A1 PLCE1 Interstitial Nephritis, Karyomegalic FAN1 Homocystinuria, Type cblC Hemorrhagic Telangiectasia Type 1 Diabetes FOXP3 NOTCH2 RAD51C PLCG2 NPHP3 BBS12 DGKE CYP11A1 De ciency Syndrome CYP11A1 Hypercalciuria, Hypophosphatemic ADCY10 IPEX Syndrome FOXP3 Mevalonic Aciduria MVK PTPRO Pulmonary Hypertension, CAV1 NPHP4 INS Alkaptonuria HGD BBS2 SLX4 Rickets SLC34A3 Congenital Anomalies of the Kidney BMP4 Cystinosis CTNS WT1 SDCCAG8 BBS4 Isolated Renal Hypoplasia PAX2 Microphthalmia, syndromic 6 BMP4 Primary 2, 3, 4 KCNK3 Urofacial Syndrome 1 HPSE2 Alport Syndrome COL4A3 and Urinary Tract (CAKUT) BMP7 Fanconi Renotubular GATM Hyperglycinuria SLC6A19 WDR19 BBS5 Cystinuria SLC3A1 Neuro bromatosis, Type 1 NF1 SMAD9 COL4A4 CHD1L Syndrome, Type 1, 2, 4 HNF4A SLC36A2 IVIC Syndrome SALL4 Mitochondrial Complex 3 De ciency BCS1L VACTERL association with HOXD13 BBS7 SLC7A9 Pulmonary venoocclusive disease 1 BMPR2 SERKAL Syndrome WNT4 COL4A5 CRKL SLC34A1 SLC6A20 UQCC2 Noonan Syndrome BRAF hydrocephalus BBS9 Joubert Syndrome Type 3, 4, AHI1 GDNF Dent Disease CLCN5 PTPN11 Renal Agenesis RET Short Stature, Microcephaly, and XRCC4 Vasculitis, Autoin ammation, ADA2 Alstrom Syndrome ALMS1 C8ORF37 Fanconi-Bickel Syndrome SLC2A2 Hyperinsulinemic Hypoglycemia, ABCC8 5, 6, 10 with CEP290 Mitochondrial Complex 4 De ciency APOPT1 GREM1 OCRL Endocrine Dysfunction Diabetes Mellitus Oculoreneal Defect NPHP1 (COA8) Norum Disease LCAT Renal Cysts and Diabetes Syndrome HNF1B Immunode ciency, and Amelogenesis Imperfecta, FAM20A CEP290 ROBO2 Fechtner Syndrome MYH9 Denys-Drash Syndrome WT1 OFD1 COX10 Short-Rib Thoracic Dysplasia 5, 9, 10 IFT140 Hematologic Defects Syndrome Type 1G, 2A3 WDR72 LZTFL1 Hyperparathyroidism 2 CDC73 Obesity MC4R Renal Dysplasia, Cystic BICC1 Cardiofaciocutaneous Syndrome KRAS Feingold Syndrome MYCN TMEM67 IFT172 MKKS Diabetes Insipidus, Nephrogenic AQP2 COX14 UCP3 Vesicoureteral Re ux 3 SOX17 Amyloidosis APOA1 Floating-Harbor Syndrome SRCAP Hyperphenylalaninemia, PCBD1 Renal Glucosuria SLC5A1 WDR19 SDCCAG8 Carnitine Palmitoyltransferase 2 CPT2 AVPR2 Junctional Epidermolysis Bullosa- ITGA6 COX20 APOC2 BH4-De cient Ochoa Syndrome HPSE2 SLC5A2 Vitamin D-Dependent Rickets, CYP27B1 TRIM32 De ciency Focal Segmental ACTN4 Pyloric Atresia Syndrome ITGB4 COX6B1 Simpson-Golabi-Behmel Syndrome, GPC3 B2M Diabetes insipidus, AVP Type 1A TTC8 Glomerulosclerosis, Type 2, 4, 5, ALG13 Hyperphosphatemic Familial GALNT3 COX8A Orofaciodigital Syndrome 6, I CPLANE1 Renal Hypertension SLC12A2 Type 1 Cataract, Juvenile, with Microcornia SLC16A12 Neurohypophyseal GCK Kallmann Syndrome ANOS1 GSN WDPCP Tumoral Calcinosis FASTKD2 OFD1 Von Hippel-Lindau Syndrome VHL 6, 7 APOL1 Renal Hypodysplasia SIX2 LYZ and Glucosuria Diabetes Mellitus HNF1A FGFR1 PET100 Smith-Lemli-Opitz Syndrome DHCR7 Bartter Syndrome, BSND CD2AP Hyperphosphatemic Tumoral KL PROKR2 Pallister-Hall Syndrome GLI3 UPK3A Wilson Disease ATP7B TTR Cenani-Lenz Syndactyly Syndrome LRP4 PAX4 SCO1 Sneddon Syndrome ADA2 Type 1, 2, 3/4B, 4a CLCNKB INF2 Calcinosis Wiskott-Aldrich Syndrome WAS Diabetes Mellitus, Juvenile-Onset PCBD1 Kelley-Seegmiller Syndrome HPRT1 TACO1 Papillorenal Syndrome PAX2 Antley-Bixler Syndrome FGFR2 KCNJ1 Cerebral Creatine De ciency GATM MYO1E Hyperprolinemia, Type 1 PRODH Permanent Neonatal Diabetes INS Wolcott-Rallison Syndrome EIF2AK3 Apert Syndrome FGFR2 SLC12A1 Syndrome 3 Diabetes Mellitus, Neonatal, GLIS3 PAX2 Koolen-De Vries Syndrome KANSL1 Mitochondrial DNA Depletion RRM2B with Congenital Hypothyroidism PMM2 Hyperuricemic Nephropathy REN Syndrome 8A Mellitus KCNJ11 Wolfram Syndrome Type 1, 2 CISD2 Apparent Mineralocorticoid Excess HSD11B2 Beckwith-Wiedemann Syndrome CDKN1C Pulmonary Venoocclusive Disease 1 INF2 LADD Syndrome FGF10 SYNPO SARS2 WFS1 NSD1 Diabetes Mellitus, SLC2A2 FGFR2 Muckle-Wells Syndrome NLRP3 Pfeiffer Syndrome Type 3 FGFR2 Arthrogryposis, Cleft Palate, PPP3CA CHARGE Syndrome CHD7 TRPC6 UMOD Noninsulin-Dependent Phosphoglycerate Kinase 1 PGK1 Xanthinuria, Type 1, 2 MOCOS Craniosynostosis, and Beta-Hemoglobinopathies HBB SEMA3E Lesch-Nyhan Syndrome HPRT1 Mullerian Aplasia and WNT4 Fraser Syndrome FRAS1 Hypocalciuric Hypercalcemia, AP2S1 XDH Diamond-Blackfan Anemia, RPL11 Hyperandrogenism De ciency Impaired Intellectual Development Bi d Nose with or without Anorectal FREM1 CHILD Syndrome NSDHL FREM2 Familial CASR Liddle Syndrome, Type 1, 2 SCNN1B Type 1, 3-11 RPL26 SCNN1G Multicentric Carpotarsal Osteolysis MAFB Phosphoribosylpyrophosphate PRPS1 Atypical hemolytic uremic CFH and Renal Anomalies Chondrodysplasia Punctata EBP GRIP1 GNA11 RPL35A with or without Nephropathy Synthetase Superactivity syndrome (aHUS) CFHR5 WT1 Lipodystrophy Congenital AGPAT2 Birt-Hogg-Dube Syndrome FLCN Ciliopathies, RPGRIP1L-Related RPGRIP1L RPL5 Hypocalcemia CASR CFI Generalized, Type 1, 2, 3 BSCL2 Myoglobinuria, Acute Recurrent LPIN1 Pierson Syndrome LAMB2 Bladder Dysfunction, Autonomic, CHRNA3 RPS10 Galloway-Mowat Syndrome TP53RK Hypogonadotropic hypogonadism 1 ANOS1 THBD COACH Syndrome TMEM67 CAV1 with Impaired Pupillary Re ex and RPS17 WDR73 Nail-Patella Syndrome LMX1B Plasminogen De ciency, Type 1 PLG DGKE Hypokalemic Periodic Paralysis, CACNA1S Congenital Anomalies of the Kidney Coenzyme Q10 De ciency, COQ2 RPS19 Lipodystrophy, Familial Partial, Type 7 CAV1 C3 Genitopatellar Syndrome KAT6B Type 1, 2 SCN4A Nephrolithiasis CLCN5 Polycystic Kidney and/or ALG9 and Urinary Tract (CAKUT) Primary, Type 1, 2, 3, 6 COQ6 RPS24 PLG Gillessen Kaesbach Nishimura ALG9 Lipoid Adrenal Hyperplasia STAR FGF23 Polycystic Liver Disease GANAB PDSS1 RPS26 Syndrome (GIKANIS) SLC26A1 PDSS2 RPS7 Lipoprotein Glomerulopathy APOE 13011 McCallen Pass, Building A Suite 100 | Austin, TX 78753 | natera.com
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