Le panel V2 comprenant 409 gènes ou 165 maladies est utilisé depuis le 25/02/2024
| Speciality | Disorder | Gene | Inheritance | |
| Cardiology | Cardiomyopathy, dilated 1MM or Cardiomyopathy Hypertrophic 4 | MYBPC3 | dominant | |
| Cardiology | Cardiomyopathy, dilated 1S or Cardiomyopathy Hypertrophic 1 | MYH7 | dominant | |
| Cardiology | Long QT syndrome 1 or Jervell and Lange-Nielsen syndrome | KCNQ1 | dominant/ recessive | |
| Cardiology | Long QT syndrome 5 | KCNE1 | dominant/ recessive | |
| Cardiology | Short QT syndrome 3 or Andersen Tawil syndrome or LQT syndrome 7 | KCNJ2 | dominant/ recessive | |
| Cardiology | Timothy syndrome or LQT8 | CACNA1C | dominant | |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic (CPVT) or LQT4 | ANK2 | dominant | |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic (CPVT)/ CALM-mediated arrhythmia syndrome | CALM2 | dominant | |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic (CPVT)/ CALM-mediated arrhythmia syndrome | CALM3 | dominant | |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic, 1 (CPVT) | RYR2 | dominant | |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT) | CASQ2 | recessive | |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic, 3 | TECRL | dominant | |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT) | CALM1 | dominant | |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic, 5 (CPVT) | TRDN | recessive | |
| Endocrinology | Congenital Adrenal Hyperplasia | CYP11A1 | recessive | |
| Endocrinology | Congenital Adrenal Hyperplasia | CYP11B1 | recessive | |
| Endocrinology | Congenital Adrenal Hyperplasia | CYP17A1 | recessive | |
| Endocrinology | Congenital Adrenal Hyperplasia | CYP21A2 | recessive | |
| Endocrinology | Congenital Adrenal Hyperplasia | HSD3B2 | recessive | |
| Endocrinology | Congenital Adrenal Hyperplasia | StAR | recessive | |
| Endocrinology | Congenital Adrenal Hyperplasia/ Antley Bixler syndrome | POR | recessive | |
| Endocrinology | Congenital Hypothyroidism | DUOX1 | recessive | |
| Endocrinology | Congenital Hypothyroidism | DUOXA1 | recessive | |
| Endocrinology | Congenital Hypothyroidism | FOXE1 | recessive | |
| Endocrinology | Congenital Hypothyroidism | GLIS3 | recessive | |
| Endocrinology | Congenital Hypothyroidism | GNAS | dominant | |
| Endocrinology | Congenital Hypothyroidism | NKX2-1 | dominant | |
| Endocrinology | Congenital Hypothyroidism | NKX2-5 | dominant | |
| Endocrinology | Congenital Hypothyroidism | SECISBP2 | recessive | |
| Endocrinology | Congenital Hypothyroidism | THRA | dominant | |
| Endocrinology | Congenital Hypothyroidism | THRB | recessive/ dominant | |
| Endocrinology | Congenital Hypothyroidism | UBR1 | recessive | |
| Endocrinology | Congenital Hypothyroidism (Genitopatellar sd) | KAT6B | dominant | |
| Endocrinology | Congenital Hypothyroidism (nongoitrous 1) | TSHR | dominant/ recessive | |
| Endocrinology | Congenital Hypothyroidism (Pendred) | FOXI1 | dominant | |
| Endocrinology | Congenital Hypothyroidism (Pendred) | KCNJ10 | dominant | |
| Endocrinology | Congenital Hypothyroidism (Pendred) | SLC26A4 | recessive | |
| Endocrinology | Congenital Hypothyroidism (thyroid dysgenesis) | HHEX | recessive | |
| Endocrinology | Congenital Hypothyroidism (thyroid dysgenesis) | PAX8 | dominant | |
| Endocrinology | Congenital Hypothyroidism (thyroid dysgenesis) | TUBB1 | recessive | |
| Endocrinology | Congenital Hypothyroidism (thyroid dyshormonogenesis-1) | SLC5A5 | recessive | |
| Endocrinology | Congenital Hypothyroidism (thyroid dyshormonogenesis-2A) | TPO | recessive | |
| Endocrinology | Congenital Hypothyroidism (thyroid dyshormonogenesis-3) | TG | recessive | |
| Endocrinology | Congenital Hypothyroidism (thyroid dyshormonogenesis-4) | IYD | recessive | |
| Endocrinology | Congenital Hypothyroidism (thyroid dyshormonogenesis-5) | DUOXA2 | recessive | |
| Endocrinology | Congenital Hypothyroidism (thyroid dyshormonogenesis-6) | DUOX2 | recessive | |
| Endocrinology | Cystic Fibrosis | CFTR | recessive | |
| Endocrinology | Deficit in Anterior Pituitary Function And Variable Immunodeficiency (DAVID) | NFKB2 | dominant | |
| Endocrinology | Hyperinsulinism-hyperammonemia syndrome (CHI) | GLUD1 | dominant | |
| Endocrinology | Hypophosphatasia, infantile | ALPL | dominant/ recessive | |
| Endocrinology | Primary aldosteronism, seizures, and neurologic abnormalities (CHI) | CACNA1D | dominant/ recessive | |
| Gastroenterology | Crigler-Najjar syndrome | UGT1A1 | recessive | |
| Gastroenterology | Acid Sphingomyelinase Deficiency | SMPD1 | recessive | |
| Gastroenterology | Alpha1-Antitrypsin deficiency | SERPINA1 | recessive | |
| Gastroenterology | Congenital diarrhea | DGAT1 | recessive | |
| Gastroenterology | Congenital diarrhea | NEUROG3 | recessive | |
| Gastroenterology | Congenital diarrhea | SLC26A3 | recessive | |
| Gastroenterology | Congenital Sodium diarrhea | SLC9A3 | recessive | |
| Gastroenterology | Familial chylomicronemia | LPL | recessive | |
| Gastroenterology | Familial chylomicronemia | APOA5 | recessive | |
| Gastroenterology | Familial chylomicronemia | APOC2 | recessive | |
| Gastroenterology | Familial chylomicronemia | GPIHBP1 | recessive | |
| Gastroenterology | Familial chylomicronemia | LMF1 | recessive | |
| Gastroenterology | Lysosomal Acid Lipase Deficiency | LIPA | recessive | |
| Gastroenterology | Pancreatic agenesis 2 | PTF1A | recessive | |
| Gastroenterology | Progressive familial intrahepatic cholestasis (PFIC1) | ATP8B1 | recessive/ dominant | |
| Gastroenterology | Progressive familial intrahepatic cholestasis (PFIC2) | ABCB11 | recessive | |
| Gastroenterology | Progressive familial intrahepatic cholestasis (PFIC3) | ABCB4 | recessive/ dominant | |
| Gastroenterology | Progressive familial intrahepatic cholestasis (PFIC4) | TJP2 | recessive | |
| Gastroenterology | Progressive familial intrahepatic cholestasis (PFIC5) | NR1H4 | recessive | |
| Gastroenterology | Progressive familial intrahepatic cholestasis (PFIC6) | MYO5B | recessive | |
| Gastroenterology | Shwachman-Diamond syndrome 1 | SBDS | recessive | |
| Gastroenterology | Shwachman-Diamond syndrome 2 | EFL1 | recessive | |
| Gastroenterology | Shwachman-Diamond syndrome-like | SRP54 | dominant | |
| Gastroenterology | Shwachman-Diamond syndrome/ Bone marrow failure syndrome 3 | DNAJC21 | recessive | |
| Gastroenterology | Very-early onset Inflammatory Bowel Disease (VEOIBD) | IL10RA | recessive | |
| Gastroenterology | Very-early onset Inflammatory Bowel Disease (VEOIBD) | IL10RB | recessive | |
| Gastroenterology | Wilson disease | ATP7B | recessive | |
| Hematology | Anemia, X-linked, with/without neutropenia and/or platelet abnormalities | GATA1 | X linked | |
| Hematology | Congenital Prothrombin Deficiency | F2 | recessive | |
| Hematology | Diamond-Blackfan Anaemia | RPL9 | dominant | |
| Hematology | Diamond-Blackfan anemia | RPL31 | dominant | |
| Hematology | Diamond-Blackfan anemia | TSR2 | X linked | |
| Hematology | Diamond-Blackfan anemia 1 | RPS19 | dominant | |
| Hematology | Diamond-Blackfan anemia 10 | RPS26 | dominant | |
| Hematology | Diamond-Blackfan anemia 11 | RPL26 | dominant | |
| Hematology | Diamond-Blackfan anemia 12 | RPL15 | dominant | |
| Hematology | Diamond-Blackfan anemia 13 | RPS29 | dominant | |
| Hematology | Diamond-Blackfan anemia 15 | RPS28 | dominant | |
| Hematology | Diamond-Blackfan anemia 16 | RPL27 | dominant | |
| Hematology | Diamond-Blackfan anemia 17 | RPS27 | dominant | |
| Hematology | Diamond-Blackfan anemia 18 | RPL18 | dominant | |
| Hematology | Diamond-Blackfan anemia 19 | RPL35 | dominant | |
| Hematology | Diamond-Blackfan anemia 20 | RPS15A | dominant | |
| Hematology | Diamond-Blackfan anemia 3 | RPS24 | dominant | |
| Hematology | Diamond-Blackfan anemia 4 | RPS17 | dominant | |
| Hematology | Diamond-Blackfan anemia 5 | RPL35A | dominant | |
| Hematology | Diamond-Blackfan anemia 6 | RPL5 | dominant | |
| Hematology | Diamond-Blackfan anemia 7 | RPL11 | dominant | |
| Hematology | Diamond-Blackfan anemia 8 | RPS7 | dominant | |
| Hematology | Diamond-Blackfan anemia 9 | RPS10 | dominant | |
| Hematology | Dyskeratosis Congenita, X-Linked | DKC1 | X Linked | |
| Hematology | Factor XIII, A Subunit, deficiency of | F13A1 | recessive | |
| Hematology | Factor XIII, B Subunit, deficiency of | F13B | recessive | |
| Hematology | Fanconi anemia | ERCC4 | recessive | |
| Hematology | Fanconi anemia | FANCA | recessive | |
| Hematology | Fanconi anemia | FANCB | X linked | |
| Hematology | Fanconi anemia | FANCC | recessive | |
| Hematology | Fanconi anemia | FANCD2 | recessive | |
| Hematology | Fanconi anemia | FANCE | recessive | |
| Hematology | Fanconi anemia | FANCF | recessive | |
| Hematology | Fanconi anemia | FANCI | recessive | |
| Hematology | Fanconi anemia | FANCL | recessive | |
| Hematology | Fanconi anemia | FANG | recessive | |
| Hematology | Fanconi anemia | MAD2L2 | recessive | |
| Hematology | Fanconi anemia | SLX4 | rcessive | |
| Hematology | Fanconi anemia | UBE2T | recessive | |
| Hematology | G6PD deficiency | G6PD | X linked | |
| Hematology | Hemoglobin disorders | HBA1 | recessive | |
| Hematology | Hemoglobin disorders | HBA2 |
| |
| Hematology | Hemoglobin disorders | HBB | recessive | |
| Hematology | Hemophilia A | F8 | X linked | |
| Hematology | Hemophilia B | F9 | X linked | |
| Hematology | Pyruvate Kinase Deficiency of Red Cells | PKLR | recessive | |
| Hematology | Thrombotic Thrombocytopenic Purpura, Hereditary | ADAMTS13 | recessive | |
| Hematology | Wiscott-Aldrich syndrome | WAS | X linked | |
| Hematology | Wiscott-Aldrich syndrome 2 | WIPF1 | recessive | |
| Immunology | Chediak-Higashi syndrome | LYST | recessive | |
| Immunology | Chronic granulomatous disease 1 (CGD) | NCF1 | recessive | |
| Immunology | Chronic granulomatous disease 2 (CGD) | NCF2 | recessive | |
| Immunology | Chronic granulomatous disease 3 (CGD) | NCF4 | recessive | |
| Immunology | Chronic granulomatous disease 4 (CGD) | CYBA | recessive | |
| Immunology | Chronic granulomatous disease, X linked (CGD) | CYBB | X linked | |
| Immunology | Griscelli syndrome 1 | MYO5A | recessive | |
| Immunology | Griscelli syndrome 2 | RAB27A | recessive | |
| Immunology | Hemophagocytic lymphohistiocytosis, familial, 2 | PRF1 | recessive | |
| Immunology | Hemophagocytic lymphohistiocytosis, familial, 3 | UNC13D | recessive | |
| Immunology | Hemophagocytic lymphohistiocytosis, familial, 4 | STX11 | recessive | |
| Immunology | Hemophagocytic lymphohistiocytosis, familial, 5 | STXBP2 | recessive | |
| Immunology | SCID | ADA | recessive | |
| Immunology | SCID | AK2 | recessive | |
| Immunology | SCID | CD247 | recessive | |
| Immunology | SCID | CD3D | recessive | |
| Immunology | SCID | CD3E | recessive | |
| Immunology | SCID | CD3G | recessive | |
| Immunology | SCID | CIITA | recessive | |
| Immunology | SCID | CORO1A | recessive | |
| Immunology | SCID | DCLRE1C | recessive | |
| Immunology | SCID | FOXN1 | recessive | |
| Immunology | SCID | IL2RG | X linked | |
| Immunology | SCID | IL7R | recessive | |
| Immunology | SCID | JAK3 | recessive | |
| Immunology | SCID | LCK | recessive | |
| Immunology | SCID | LIG4 | recessive | |
| Immunology | SCID | PRKDC | recessive | |
| Immunology | SCID | PTPRC | recessive | |
| Immunology | SCID | RAc2 | recessive | |
| Immunology | SCID | RAG1 | recessive | |
| Immunology | SCID | RAG2 | recessive | |
| Immunology | SCID | RFX5 | recessive | |
| Immunology | SCID | RFXANK | recessive | |
| Immunology | SCID | RFXAP | recessive | |
| Immunology | SCID | ZAP70 | recessive | |
| Immunology | SCID – IMD40 | DOCK2 | recessive | |
| Immunology | SCID – IMD52 | LAT | recessive | |
| Immunology | Severe congenital neutropenia 1 | ELANE | dominant | |
| Immunology | Severe congenital neutropenia 2 | GFI1 | dominant | |
| Immunology | Severe congenital neutropenia 3 | HAX1 | recessive | |
| Immunology | Severe congenital neutropenia 4 (Dursun syndrome) | G6PC3 | recessive | |
| Immunology | Severe congenital neutropenia 5 | VPS45 | recessive | |
| Immunology | Severe congenital neutropenia 6 | JAGN1 | recessive | |
| Immunology | Severe congenital neutropenia 7 | CSF3R | recessive | |
| Immunology | Severe congenital neutropenia 8 | SRP54 | dominant | |
| Immunology | Whim Syndrome | CXCR4 | dominant | |
| Metabo | 2-Methylbutyrylglycinuria (SBCAD) | ACADSB | recessive | |
| Metabo | 2,4 Dienoyl-CoA Reductase Deficiency | NADK2 | recessive | |
| Metabo | 3-HMG-CoA synthase-2 deficiency | HMGCS2 | recessive | |
| Metabo | 3-Hydroxy-3-Methyglutaric Aciduria (HMGCoAliase) | HMGCL | recessive | |
| Metabo | 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) | MCCC1 | recessive | |
| Metabo | 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) | MCCC2 | recessive | |
| Metabo | ACAD9 deficiency | ACAD9 | recessive | |
| Metabo | Argininemia | ARG1 | recessive | |
| Metabo | Argininosuccinic Aciduria | ASL | recessive | |
| Metabo | Biotinidase deficiency | BTD | recessive | |
| Metabo | Branched-chain keto acid dehydrogenase kinase deficiency | BCKDK | recessive | |
| Metabo | Brown-Vialetto-Van Laere syndrome 1 | SLC52A3 | recessive | |
| Metabo | Brown-Vialetto-Van Laere syndrome 2 | SLC52A2 | recessive | |
| Metabo | Carnitine Acylcarnitine Translocase Deficiency | SLC25A20 | recessive | |
| Metabo | Carnitine Palmitoyltransferase Type I Deficiency (CPT1) | CPT1A | recessive | |
| Metabo | Carnitine Palmitoyltransferase Type II Deficiency (CPT2) | CPT2 | recessive | |
| Metabo | Carnitine Uptake Defect/Carnitine Transport Defect | SLC22A5 |
| |
| Metabo | Cerebral Creatine deficiency syndrome | GAMT |
| |
| Metabo | Cerebral Creatine deficiency syndrome | GATM | recessive | |
| Metabo | Cerebral Creatine deficiency syndrome | SLC6A8 | X linked | |
| Metabo | Citrullinemia, Type I | ASS1 | recessive | |
| Metabo | Citrullinemia, Type II | SLC25A13 | recessive | |
| Metabo | Combined Malonic and Methylmalonic Aciduria (CMAMMA) | ACSF3 | recessive | |
| Metabo | CPS1 deficiency | CPS1 | recessive | |
| Metabo | Dihydrolipoamide Dehydrogenase deficiency | DLD | recessive | |
| Metabo | Fructose 1,6-biphosphatase deficiency | FBP1 | recessive | |
| Metabo | Fructose intolerance, hereditary | ALDOB | recessive | |
| Metabo | Galactosemia | GALE | recessive | |
| Metabo | Galactosemia | GALK1 | recessive | |
| Metabo | Galactosemia | GALT | recessive | |
| Metabo | Galactosemia IV | GALM | recessive | |
| Metabo | Gaucher disease type 1 | GBA | recessive | |
| Metabo | Glucose/galactose malabsorption | SLC5A1 | recessive | |
| Metabo | Glutaric Aciduria type I | GCDH | recessive | |
| Metabo | Glycine encephalopathy | AMT | recessive | |
| Metabo | Glycine encephalopathy | GLDC | recessive | |
| Metabo | Glycogen Storage Disease type 0A | GYS2 | recessive | |
| Metabo | Glycogen Storage Disease type 0B | GYS1 | recessive | |
| Metabo | Glycogen Storage Disease type IA | G6PC | recessive | |
| Metabo | Glycogen Storage Disease type IB/IC | SLC37A4 | recessive | |
| Metabo | Glycogen Storage Disease type III | AGL | recessive | |
| Metabo | Glycogen Storage Disease type IXA | PHKA2 | recessive | |
| Metabo | Glycogen Storage Disease type IXB | PHKB | recessive | |
| Metabo | Glycogen Storage Disease type IXC | PHKG2 | recessive | |
| Metabo | Glycogen Storage Disease type VI | PYGL | recessive | |
| Metabo | Glycogen Storage Disease type XI (Fanconi-Bickel) | SLC2A2 | recessive | |
| Metabo | Holocarboxylase Synthase Deficiency | HLCS | recessive | |
| Metabo | Homocystinuria | CBS | recessive | |
| Metabo | Homocystinuria | MTHFR | recessive | |
| Metabo | Homocystinuria | MTR | recessive | |
| Metabo | Homocystinuria (CblE) | MTRR | recessive | |
| Metabo | Hunter disease (MPS II) | IDS | X linked | |
| Metabo | Hurler disease (MPS I) | IDUA | recessive | |
| Metabo | Hypermethioninemia | ADK | recessive | |
| Metabo | Hypermethioninemia | AHCY | recessive | |
| Metabo | Hypermethioninemia | MAT1A | recessive/ dominant | |
| Metabo | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) | SLC25A15 | recessive | |
| Metabo | Isobutyrylglycinuria | ACAD8 | recessive | |
| Metabo | Isovaleric Acidemia | IVD | recessive | |
| Metabo | Long-chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) | HADHA | recessive | |
| Metabo | Long-chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (Trifunctional Protein Deficiency) | HADHB | recessive | |
| Metabo | Malonic Aciduria | MLYCD | recessive | |
| Metabo | Maroteaux-Lamy syndrome (MPS VI) | ARSB | recessive | |
| Metabo | Medium chain Acyl-CoA dehydrogenase deficiency (MCAD) | ACADM | recessive | |
| Metabo | Medium/Short-Chain L-3-HydroxyacylCoA Dehydrogenase Deficiency | HADH | recessive | |
| Metabo | Methylmalonic Acidemia | ABCD4 | recessive | |
| Metabo | Methylmalonic Acidemia | HCFC1 | X linked | |
| Metabo | Methylmalonic Acidemia | LMBRD1 | recessive | |
| Metabo | Methylmalonic Acidemia | MCEE | recessive | |
| Metabo | Methylmalonic Acidemia | MMACHC | recessive | |
| Metabo | Methylmalonic Acidemia | MMADHC | recessive | |
| Metabo | Methylmalonic Acidemia | MMUT | recessive | |
| Metabo | Methylmalonic Acidemia | TCN2 | recessive | |
| Metabo | Methylmalonic Acidemia (CblA) | MMAA | recessive | |
| Metabo | Methylmalonic Acidemia (CblB) | MMAB | recessive | |
| Metabo | Morquio disease (MPS IVA) | GALNS | recessive | |
| Metabo | MSUD | BCKDHA | recessive | |
| Metabo | MSUD | BCKDHB | recessive | |
| Metabo | MSUD | DBT | recessive | |
| Metabo | Multiple acyl-coa dehydrogenase deficiency (MADD) | ETFA | recessive | |
| Metabo | Multiple acyl-coa dehydrogenase deficiency (MADD) | ETFB | recessive | |
| Metabo | Multiple acyl-coa dehydrogenase deficiency (MADD) | ETFDH | recessive | |
| Metabo | Multiple acyl-coa dehydrogenase deficiency (MADD) | FLAD1 | recessive | |
| Metabo | NAGS deficiency | NAGS | recessive | |
| Metabo | OTC deficiency | OTC | recessive | |
| Metabo | Phenylketonuria (BH4) | GCH1 | recessive | |
| Metabo | Phenylketonuria (BH4) | PCBD1 | recessive | |
| Metabo | Phenylketonuria (BH4) | PTS | recessive | |
| Metabo | Phenylketonuria (BH4) | QDPR | recessive | |
| Metabo | Phenylketonuria (Hyper-Phe, mild) | DNAJC12 | recessive | |
| Metabo | Phenylketonuria (PKU) | PAH | recessive | |
| Metabo | Pompe disease | GAA | recessive | |
| Metabo | Propionic Acidemia | PCCA | recessive | |
| Metabo | Propionic Acidemia | PCCB | recessive | |
| Metabo | Pyridoxine-Dependent Epilepsy | ALDH7A1 | recessive | |
| Metabo | Pyridoxine-Dependent Epilepsy | PNPO | recessive | |
| Metabo | Riboflavin deficiency | SLC52A1 | recessive | |
| Metabo | Riboflavin deficiency, exercise intolerance | SLC25A32 | recessive | |
| Metabo | SCOT deficiency | OXCT1 | recessive | |
| Metabo | Serine Biosynthesis defect | PHGDH | recessive | |
| Metabo | Serine Biosynthesis defect | PSAT1 | recessive | |
| Metabo | Serine Biosynthesis defect | PSPH | recessive | |
| Metabo | Serine transporter defect | SLC1A4 | recessive | |
| Metabo | Short-Chain Acyl-CoA Dehydrogenase Deficiency | ACADS | recessive | |
| Metabo | Sly (MPSVII) | GUSB |
| |
| Metabo | ß-Ketothiolase Deficiency | ACAT1 | recessive | |
| Metabo | Sucrase-isomaltase deficiency | SI | recessive | |
| Metabo | Tyrosinemia 1 | FAH | recessive | |
| Metabo | Tyrosinemia 2 | HPD | recessive | |
| Metabo | Tyrosinemia 3 | TAT | recessive | |
| Metabo | VLCAD | ACADVL | recessive | |
| Nephrology | Alport syndrome type 1, X Linked | COL4A5 | X linked | |
| Nephrology | Alport syndrome type 2 | COL4A4 | recessive | |
| Nephrology | Alport syndrome type 2 and 3 | COL4A3 | recessive/ dominant | |
| Nephrology | Congenital nephrotic syndrome, finnish | NPHS1 | recessive | |
| Nephrology | Cystinosis, nephropathic | CTNS | recessive | |
| Nephrology | Hereditary Nephrogenic Diabetes Insipidus (NDI) | AQP2 | recessive/ dominant | |
| Nephrology | Hereditary Nephrogenic Diabetes Insipidus (NDI) | AVPR2 | X linked | |
| Nephrology | Hypophosphatemic Rickets, X-linked | PHEX | X linked | |
| Nephrology | Primary Oxaluria type 1 | AGXT | recessive | |
| Nephrology | Primary Oxaluria type 2 | GRHPR | recessive | |
| Nephrology | Primary Oxaluria type 3 | HOGA1 | recessive | |
| Nephrology | Pseudohypoaldosteronism, type I (PHA1a) | NR3C2 | dominant | |
| Nephrology | Pseudohypoaldosteronism, type I (PHA1b) | SCNN1A | recessive | |
| Nephrology | Pseudohypoaldosteronism, type I (PHA1b) | SCNN1B | recessive | |
| Nephrology | Pseudohypoaldosteronism, type I (PHA1b) | SCNN1G | recessive | |
| Nephrology | Pseudohypoaldosteronism, type IIB (PHA2B) | WNK4 | dominant | |
| Nephrology | Pseudohypoaldosteronism, type IIC (PHA2C) | WNK1 | dominant | |
| Nephrology | Pseudohypoaldosteronism, type IID (PHA2D) | KLHL3 | recessive/ dominant | |
| Nephrology | Pseudohypoaldosteronism, type IIE (PHA2E) | CUL3 | dominant | |
| Neurology | Aromatic L-amino acid decarboxylase deficiency | DDC | recessive | |
| Neurology | Ataxia with vitamin E deficiency | TTPA | recessive | |
| Neurology | Brain dopamine-serotonin vesicular transport disease | SLC18A2 | recessive | |
| Neurology | Cerebral folate transport deficiency | FOLR1 | recessive | |
| Neurology | Ceroide Lipofuscinosis type 2 (CLN2) | TPP1 | recessive | |
| Neurology | De Vivo disease | SLC2A1 | dominant/ rare AR | |
| Neurology | Developmental and epileptic encephalopathy 82/ GOT2 deficiency | GOT2 | recessive | |
| Neurology | Dopamine beta-Hydroxylase deficiency | DBH | recessive | |
| Neurology | Dystonia dopa responsive | SPR | recessive | |
| Neurology | Epilepsy, Early-Onset, Vitamin B6-Dependent; Epvb6d | PLPBP | recessive | |
| Neurology | Hereditary Hyperekplexia 1 | GLRA1 | recessive and dominant | |
| Neurology | Hereditary Hyperekplexia 2 | GLRB | recessive and dominant | |
| Neurology | Hereditary Hyperekplexia 3 | SLC6A5 | recessive and rare dominant | |
| Neurology | Menkes disease | ATP7A | X linked | |
| Neurology | Metachromatic Leukodystrophy | ARSA | recessive | |
| Neurology | Myasthenic syndrome, congenital | GMPPB | recessive | |
| Neurology | Myasthenic syndrome, congenital | LAMA5 | recessive | |
| Neurology | Myasthenic syndrome, congenital | MACF1 | recessive | |
| Neurology | Myasthenic syndrome, congenital | RPH3A | recessive | |
| Neurology | Myasthenic syndrome, congenital, 10 | DOK7 | recessive | |
| Neurology | Myasthenic syndrome, congenital, 11 | GFPT1 | recessive | |
| Neurology | Myasthenic syndrome, congenital, 11 | RAPSN | recessive | |
| Neurology | Myasthenic syndrome, congenital, 13, with tubular aggregates | DPAGT1 | recessive | |
| Neurology | Myasthenic syndrome, congenital, 14 | ALG2 | recessive | |
| Neurology | Myasthenic syndrome, congenital, 15 | ALG14 | recessive | |
| Neurology | Myasthenic syndrome, congenital, 17 | LRP4 | recessive | |
| Neurology | Myasthenic syndrome, congenital, 18 | SNAP25 | dominant | |
| Neurology | Myasthenic syndrome, congenital, 19 | COL13A1 | recessive | |
| Neurology | Myasthenic syndrome, congenital, 1A slow channel or 1B fast channel | CHRNA1 | recessive/ dominant | |
| Neurology | Myasthenic syndrome, congenital, 20, presynaptic | SLC5A7 | recessive | |
| Neurology | Myasthenic syndrome, congenital, 21, presynaptic | SLC18A3 | recessive | |
| Neurology | Myasthenic syndrome, congenital, 22 | PREPL | recessive | |
| Neurology | Myasthenic syndrome, congenital, 23, presynaptic | SLC25A1 | recessive | |
| Neurology | Myasthenic syndrome, congenital, 24, presynaptic | MYO9A | recessive | |
| Neurology | Myasthenic syndrome, congenital, 25 | VAMP1 | recessive | |
| Neurology | Myasthenic syndrome, congenital, 2A, slow-channel | CHRNB1 | recessive/ dominant | |
| Neurology | Myasthenic syndrome, congenital, 3B, fast-channel | CHRND | recessive/ dominant | |
| Neurology | Myasthenic syndrome, congenital, 4c, | ACHRE | recessive | |
| Neurology | Myasthenic syndrome, congenital, 5 | COLQ | recessive | |
| Neurology | Myasthenic syndrome, congenital, 6, presynaptic | CHAT | recessive | |
| Neurology | Myasthenic syndrome, congenital, 7, presynaptic | SYT2 | dominant | |
| Neurology | Myasthenic syndrome, congenital, 8, postsynaptic | AGRN | recessive | |
| Neurology | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | MUSK | recessive | |
| Neurology | Myasthenic syndrome, congenital, with epidermolysis bullosa | PLEC | recessive | |
| Neurology | Myasthenic syndrome, MUNC13-1 | UNC13-1 | recessive | |
| Neurology | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy | PDXK | recessive | |
| Neurology | Segawa syndrome | TH | recessive | |
| Neurology | Smith-Lemli-Opitz syndrome | DHCR7 | recessive | |
| Neurology | Spinal Muscular Atrophy | SMN1 | recessive | |
| Neurology | Spinal Muscular Atrophy | SMN2 | recessive | |
| Neurology | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | SLC19A3 | recessive | |
| Neurology | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | SLC25A19 | recessive | |
| Neurology | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | TPK1 | recessive | |
| Neurology | Thiamine-responsive megaloblastic anemia syndrome | SLC19A2 | recessive | |
| Neurology | X-Adrenoleukodystrophy | ABCD1 | X linked | |
| Onco / OPH | Retinoblastoma | RB1 | dominant | |
| OPH | Familial Exudative Vitreoretinopathy (FEVR) | FZD4 | dominant | |
| OPH | Familial Exudative Vitreoretinopathy (FEVR) | KIF11 | dominant | |
| OPH | Familial Exudative Vitreoretinopathy (FEVR) | LRP5 | recessive | |
| OPH | Familial Exudative Vitreoretinopathy (FEVR) | RCBTB1 | dominant | |
| OPH | Familial Exudative Vitreoretinopathy (FEVR) | TSPAN12 | dominant | |
| OPH | Familial Exudative Vitreoretinopathy (FEVR) | ZNF408 | dominant | |
| OPH | Primary congenital glaucoma | CYP1B1 | recessive | |
| OPH | Primary congenital glaucoma | LTBP2 | recessive | |
| OPH | Severe early childhood onset retinal dystrophy (SECORD) | RPE65 | recessive | |
| ACTH deficiency, isolated | TBX19 | recessive | ||
| Agammaglobulinemia 7, Autosomal Recessive | PIK3R1 | recessive | ||
| Agammaglobulinemia, X-Linked | BTK | X Linked | ||
| Autoimmune Lymphoproliferative Syndrome | FAS | dominant | ||
| Bachman-Bupp syndrome (BABS) | ODC1 | dominant | ||
| Bone Marrow Failure Syndrome 4 | MYSM1 | recessive | ||
| Carbonic Anhydrase Va deficiency, Hyperammonemia due to (CA5AD) | CA5A | recessive | ||
| Congenital Disorder of Glycosylation, Type IIn | SLC39A8 | recessive | ||
| Corticosterone methyloxidase type I deficiency | CYP11B2 | recessive | ||
| Fanconi Anemia, Complementation Group D1 | BRCA2 | recessive | ||
| Fanconi Anemia, Complementation Group J | BRIP1 | recessive | ||
| Fanconi Anemia, Complementation Group W | RFWD3 | recessive | ||
| Glucocorticoid deficiency 2 (GCCD2) | MRAP | recessive | ||
| Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | NNT | recessive | ||
| GRIN2B-related neurodevelopmental disorder (GRIN2B-NDD) | GRIN2B | dominant | ||
| Hereditary Hyperekplexia 4 | ATAD1 | recessive | ||
| Hyper-IgE Recurrent Infection Syndrome 2, Autosomal Recessive | DOCK8 | recessive | ||
| Imerslund-Grasbeck Syndrome 1 | CUBN | recessive | ||
| Imerslund-Grasbeck Syndrome 2 | AMN | recessive | ||
| Immunodeficiency 23 | PGM3 | recessive | ||
| Immunodeficiency 24 | CTPS1 | recessive | ||
| Immunodeficiency 63 With Lymphoproliferation and Autoimmunity; IMD63 | IL2RB | recessive | ||
| Immunodeficiency 67 | IRAK4 | recessive | ||
| Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia | ARPC1B | recessive | ||
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked (IPEX) | FOXP3 | X-Linked | ||
| Intrinsic Factor Deficiency (IFD) | CBLIF | recessive | ||
| Johanson-Blizzard syndrome (pancreatitis achylia – one of many symptoms) | UBR1 | recessive | ||
| Leukocyte Adhesion Deficiency, Type I (LAD) | ITGB2 | recessive | ||
| Lymphoproliferative Syndrome, X-Linked, 1 | SH2D1A | X Linked | ||
| Lymphoproliferative Syndrome, X-Linked, 2 | XIAP | X Linked | ||
| Lysynuric Protein Intolerance | SLC7A7 | recessive | ||
| Mevalonic Aciduria | MVK | recessive | ||
| Molybdenum Cofactor Deficiency, Complementation Group A | MOCS1 | recessive | ||
| Mucopolysaccharidosis IIIa (MPS IIIb) | NAGLU | recessive | ||
| Mucopolysaccharidosis IIIa (MPS IIIc) | HGSNAT | recessive | ||
| Mucopolysaccharidosis IIIa (MPSIIIa) | SGSH | recessive | ||
| Nijmegen Breakage Syndrome | NBN | recessive | ||
| Norrie disease | NDP | X linked | ||
| Osteopetrosis, Autosomal Recessive 4 | CLCN7 | recessive | ||
| Osteopetrosis, Autosomal Recessive 7 | TNFRSF11A | recessive |