Le panel V2 comprenant 405 gènes ou 165 maladies est utilisé depuis le 25/02/2024.
| Group of Disease | Disease | Gene |
| Cardiology | Cardiomyopathy, dilated 1MM or Cardiomyopathy Hypertrophic 4 | MYBPC3 |
| Cardiology | Cardiomyopathy, dilated 1S or Cardiomyopathy Hypertrophic 1 | MYH7 |
| Cardiology | Long QT syndrome 1 (Jervell and Lange-Nielsen Syndrome) | KCNQ1 |
| Cardiology | Long QT syndrome 5 | KCNE1 |
| Cardiology | Short QT syndrome 3 or Andersen Tawil syndrome or LQT syndrome 7 | KCNJ2 |
| Cardiology | Timothy syndrome | CACNA1C |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic (CPVT) | ANK2 |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic (CPVT)/CALM-mediated arrhythmia syndrome | CALM2 |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic (CPVT)/CALM-mediated arrhythmia syndrome | CALM3 |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic, 1 (CPVT) | RYR2 |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic, 2 (CPVT) | CASQ2 |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic, 3 | TECRL |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic, 4 (CPVT) | CALM1 |
| Cardiology | Ventricular tachycardia, catecholaminergic polymorphic, 5 (CPVT) | TRDN |
| Endocrinology | Congenital Adrenal Hyperplasia | CYP21A2 |
| Endocrinology | Congenital Adrenal Hyperplasia | CYP11A1 |
| Endocrinology | Congenital Adrenal Hyperplasia | CYP11B1 |
| Endocrinology | Congenital Adrenal Hyperplasia | CYP17A1 |
| Endocrinology | Congenital Adrenal Hyperplasia | HSD3B2 |
| Endocrinology | Congenital Adrenal Hyperplasia | STAR |
| Endocrinology | Congenital Adrenal Hyperplasia/ Antley Bixler syndrome | POR |
| Endocrinology | Congenital Hypothyroidism | THRA |
| Endocrinology | Congenital Hypothyroidism | THRB |
| Endocrinology | Congenital Hypothyroidism | FOXE1 |
| Endocrinology | Congenital Hypothyroidism | NKX2-1 |
| Endocrinology | Congenital Hypothyroidism | NKX2-5 |
| Endocrinology | Congenital Hypothyroidism | GNAS |
| Endocrinology | Congenital Hypothyroidism | SECISBP2 |
| Endocrinology | Congenital Hypothyroidism | DUOX1 |
| Endocrinology | Congenital Hypothyroidism | GLIS3 |
| Endocrinology | Congenital Hypothyroidism | DUOXA1 |
| Endocrinology | Congenital Hypothyroidism (Genitopatellar sd) | KAT6B |
| Endocrinology | Congenital Hypothyroidism (nongoitrous 1) | TSHR |
| Endocrinology | Congenital Hypothyroidism (Pendred) | SLC26A4 |
| Endocrinology | Congenital Hypothyroidism (Pendred) | FOXI1 |
| Endocrinology | Congenital Hypothyroidism (Pendred) | KCNJ10 |
| Endocrinology | Congenital Hypothyroidism (thyroid dysgenesis) | PAX8 |
| Endocrinology | Congenital Hypothyroidism (thyroid dysgenesis) | TUBB1 |
| Endocrinology | Congenital Hypothyroidism (thyroid dysgenesis) | HHEX |
| Endocrinology | Congenital Hypothyroidism (thyroid dyshormonogenesis-1) | SLC5A5 |
| Endocrinology | Congenital Hypothyroidism (thyroid dyshormonogenesis-2A) | TPO |
| Endocrinology | Congenital Hypothyroidism (thyroid dyshormonogenesis-3) | TG |
| Endocrinology | Congenital Hypothyroidism (thyroid dyshormonogenesis-4) | IYD |
| Endocrinology | Congenital Hypothyroidism (thyroid dyshormonogenesis-5) | DUOXA2 |
| Endocrinology | Congenital Hypothyroidism (thyroid dyshormonogenesis-6) | DUOX2 |
| Endocrinology | Congenital Prothrombin Deficiency | F2 |
| Endocrinology | Cystic Fibrosis | CFTR |
| Endocrinology | Deficit in Anterior Pituitary Function And Variable Immunodeficiency (DAVID) | NFKB2 |
| Gastroenterology | Alpha1-Antitrypsin deficiency | SERPINA1 |
| Gastroenterology | Congenital diahrrea | DGAT1 |
| Gastroenterology | Congenital diahrrea | NEUROG3 |
| Gastroenterology | Congenital diahrrea | SLC26A3 |
| Gastroenterology | Congenital Sodium diahrrea | SLC9A3 |
| Gastroenterology | Crigler-Najjar syndrome | UGT1A1 |
| Gastroenterology | Familial chylomicronemia | APOA5 |
| Gastroenterology | Familial chylomicronemia | APOC2 |
| Gastroenterology | Familial chylomicronemia | GPIHBP1 |
| Gastroenterology | Familial chylomicronemia | LMF1 |
| Gastroenterology | Familial chylomicronemia | LPL |
| Gastroenterology | Johanson-Blizzard syndrome (pancreatitis achylia – one of many symptoms) | UBR1 |
| Gastroenterology | Lysosomal Acid Lipase Deficiency | LIPA |
| Gastroenterology | Lysynuric Protein Intolerance | SLC7A7 |
| Gastroenterology | Pancreatic agenesis 2 | PTF1A |
| Gastroenterology | Progressive familial intrahepatic cholestasis (PFIC1) | ATP8B1 |
| Gastroenterology | Progressive familial intrahepatic cholestasis (PFIC2) | ABCB11 |
| Gastroenterology | Progressive familial intrahepatic cholestasis (PFIC3) | ABCB4 |
| Gastroenterology | Progressive familial intrahepatic cholestasis (PFIC4) | TJP2 |
| Gastroenterology | Progressive familial intrahepatic cholestasis (PFIC5) | NR1H4 |
| Gastroenterology | Progressive familial intrahepatic cholestasis (PFIC6) | MYO5B |
| Gastroenterology | Shwachman-Diamond syndrome 1 | SBDS |
| Gastroenterology | Shwachman-Diamond syndrome 2 | EFL1 |
| Gastroenterology | Shwachman-Diamond syndrome/ Bone marrow failure syndrome 3 | DNAJC21 |
| Gastroenterology | Very-early onset Inflammatory Bowel Disease (VEOIBD) | IL10RA |
| Gastroenterology | Very-early onset Inflammatory Bowel Disease (VEOIBD) | IL10RB |
| Gastroenterology | Wilson disease | ATP7B |
| Hematology | Anemia, X-linked, with/without neutropenia and/or platelet abnormalities | GATA1 |
| Hematology | Bone Marrow Failure Syndrome 4 | MYSM1 |
| Hematology | Diamond-Blackfan Anaemia | RPL9 |
| Hematology | Diamond-Blackfan anemia | RPL31 |
| Hematology | Diamond-Blackfan anemia | TSR2 |
| Hematology | Diamond-Blackfan anemia 1 | RPS19 |
| Hematology | Diamond-Blackfan anemia 10 | RPS26 |
| Hematology | Diamond-Blackfan anemia 11 | RPL26 |
| Hematology | Diamond-Blackfan anemia 12 | RPL15 |
| Hematology | Diamond-Blackfan anemia 13 | RPS29 |
| Hematology | Diamond-Blackfan anemia 15 | RPS28 |
| Hematology | Diamond-Blackfan anemia 16 | RPL27 |
| Hematology | Diamond-Blackfan anemia 17 | RPS27 |
| Hematology | Diamond-Blackfan anemia 18 | RPL18 |
| Hematology | Diamond-Blackfan anemia 19 | RPL35 |
| Hematology | Diamond-Blackfan anemia 20 | RPS15A |
| Hematology | Diamond-Blackfan anemia 3 | RPS24 |
| Hematology | Diamond-Blackfan anemia 4 | RPS17 |
| Hematology | Diamond-Blackfan anemia 5 | RPL35A |
| Hematology | Diamond-Blackfan anemia 6 | RPL5 |
| Hematology | Diamond-Blackfan anemia 7 | RPL11 |
| Hematology | Diamond-Blackfan anemia 8 | RPS7 |
| Hematology | Diamond-Blackfan anemia 9 | RPS10 |
| Hematology | Dyskeratosis Congenita, X-Linked | DKC1 |
| Hematology | Factor XIII, A Subunit, deficiency of | F13A1 |
| Hematology | Factor XIII, B Subunit, deficiency of | F13B |
| Hematology | Fanconi anemia | FANCA |
| Hematology | Fanconi anemia | FANCB |
| Hematology | Fanconi anemia | FANCC |
| Hematology | Fanconi anemia | FANCD2 |
| Hematology | Fanconi anemia | FANCE |
| Hematology | Fanconi anemia | FANCF |
| Hematology | Fanconi anemia | FANCG |
| Hematology | Fanconi anemia | FANCI |
| Hematology | Fanconi anemia | ERCC4 |
| Hematology | Fanconi anemia | FANCL |
| Hematology | Fanconi anemia | MAD2L2 |
| Hematology | Fanconi anemia | UBE2T |
| Hematology | Fanconi anemia | SLX4 |
| Hematology | Fanconi Anemia, Complementation Group D1 | BRCA2 |
| Hematology | Fanconi Anemia, Complementation Group J | BRIP1 |
| Hematology | Fanconi Anemia, Complementation Group W | RFWD3 |
| Hematology | Hemoglobin disorders | HBB |
| Hematology | Hemoglobin disorders | HBA1 |
| Hematology | Hemoglobin disorders | HBA2 |
| Hematology | Hemophilia A | F8 |
| Hematology | Hemophilia B | F9 |
| Hematology | Osteopetrosis, Autosomal Recessive 4 | CLCN7 |
| Hematology | Osteopetrosis, Autosomal Recessive 7 | TNFRSF11A |
| Hematology | Pyruvate Kinase Deficiency of Red Cells | PKLR |
| Hematology | Thiamine-responsive megaloblastic anemia syndrome | SLC19A2 |
| Hematology | Thrombotic Thrombocytopenic Purpura, Hereditary | ADAMTS13 |
| Hematology | Wiscott-Aldrich syndrome | WAS |
| Hematology | Wiscott-Aldrich syndrome 2 | WIPF1 |
| Immunology | Agammaglobulinemia 7, Autosomal Recessive | PIK3R1 |
| Immunology | Agammaglobulinemia, X-Linked | BTK |
| Immunology | Autoimmune Lymphoproliferative Syndrome | FAS |
| Immunology | Chediak-Higashi syndrome | LYST |
| Immunology | Chronic granulomatous disease 1 (CGD) | NCF1 |
| Immunology | Chronic granulomatous disease 2 (CGD) | NCF2 |
| Immunology | Chronic granulomatous disease 3 (CGD) | NCF4 |
| Immunology | Chronic granulomatous disease 4 (CGD) | CYBA |
| Immunology | Chronic granulomatous disease, X linked (CGD) | CYBB |
| Immunology | Griscelli syndrome 1 | MYO5A |
| Immunology | Griscelli syndrome 2 | RAB27A |
| Immunology | Hemophagocytic lymphohistiocytosis, familial, 2 | PRF1 |
| Immunology | Hemophagocytic lymphohistiocytosis, familial, 3 | UNC13D |
| Immunology | Hemophagocytic lymphohistiocytosis, familial, 4 | STX11 |
| Immunology | Hemophagocytic lymphohistiocytosis, familial, 5 | STXBP2 |
| Immunology | Hyper-IgE Recurrent Infection Syndrome 2, Autosomal Recessive | DOCK8 |
| Immunology | Immunodeficiency 23 | PGM3 |
| Immunology | Immunodeficiency 24 | CTPS1 |
| Immunology | Immunodeficiency 63 With Lymphoproliferation and Autoimmunity; IMD63 | IL2RB |
| Immunology | Immunodeficiency 67 | IRAK4 |
| Immunology | Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia | ARPC1B |
| Immunology | Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked (IPEX) | FOXP3 |
| Immunology | Leukocyte Adhesion Deficiency, Type I (LAD) | ITGB2 |
| Immunology | Lymphoproliferative Syndrome, X-Linked, 1 | SH2D1A |
| Immunology | Lymphoproliferative Syndrome, X-Linked, 2 | XIAP |
| Immunology | SCID | RAC2 |
| Immunology | SCID | RAG1 |
| Immunology | SCID | CD3D |
| Immunology | SCID | RAG2 |
| Immunology | SCID | ADA |
| Immunology | SCID | IL2RG |
| Immunology | SCID | JAK3 |
| Immunology | SCID | IL7R |
| Immunology | SCID | DCLRE1C |
| Immunology | SCID | PRKDC |
| Immunology | SCID | LIG4 |
| Immunology | SCID | CD3E |
| Immunology | SCID | CD247 |
| Immunology | SCID | CD3G |
| Immunology | SCID | PTPRC |
| Immunology | SCID | LCK |
| Immunology | SCID | AK2 |
| Immunology | SCID | FOXN1 |
| Immunology | SCID | CORO1A |
| Immunology | SCID | CIITA |
| Immunology | SCID | RFXANK |
| Immunology | SCID | RFX5 |
| Immunology | SCID | RFXAP |
| Immunology | SCID | ZAP70 |
| Immunology | SCID – IMD40 | DOCK2 |
| Immunology | SCID – IMD52 | LAT |
| Immunology | Severe congenital neutropenia 1 | ELANE |
| Immunology | Severe congenital neutropenia 2 | GFI1 |
| Immunology | Severe congenital neutropenia 3 | HAX1 |
| Immunology | Severe congenital neutropenia 4 (Dursun syndrome) | G6PC3 |
| Immunology | Severe congenital neutropenia 5 | VPS45 |
| Immunology | Severe congenital neutropenia 6 | JAGN1 |
| Immunology | Severe congenital neutropenia 7 | CSF3R |
| Immunology | Severe congenital neutropenia 8 | SRP54 |
| Immunology | Whim Syndrome | CXCR4 |
| Metabolic | 2-Methylbutyrylglycinuria (SBCAD) | ACADSB |
| Metabolic | 2,4 Dienoyl-CoA Reductase Deficiency | NADK2 |
| Metabolic | 3-HMG-CoA synthase-2 deficiency | HMGCS2 |
| Metabolic | 3-Hydroxy-3-Methyglutaric Aciduria (HMGCoAliase) | HMGCL |
| Metabolic | 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) | MCCC1 |
| Metabolic | 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) | MCCC2 |
| Metabolic | ACAD9 deficiency | ACAD9 |
| Metabolic | ACTH deficiency, isolated | TBX19 |
| Metabolic | Argininemia | ARG1 |
| Metabolic | Argininosuccinic Aciduria | ASL |
| Metabolic | Aromatic L-amino acid decarboxylase deficiency | DDC |
| Metabolic | Biotinidase deficiency | BTD |
| Metabolic | Branched-chain keto acid dehydrogenase kinase deficiency | BCKDK |
| Metabolic | Brown-Vialetto-Van Laere syndrome 1 | SLC52A3 |
| Metabolic | Brown-Vialetto-Van Laere syndrome 2 | SLC52A2 |
| Metabolic | Carbonic Anhydrase Va deficiency, Hyperammonemia due to (CA5AD) | CA5A |
| Metabolic | Carnitine Acylcarnitine Translocase Deficiency | SLC25A20 |
| Metabolic | Carnitine Palmitoyltransferase Type I Deficiency (CPT1) | CPT1A |
| Metabolic | Carnitine Palmitoyltransferase Type II Deficiency (CPT2) | CPT2 |
| Metabolic | Carnitine Uptake Defect/Carnitine Transport Defect | SLC22A5 |
| Metabolic | Cerebral Creatine deficiency syndrome | GAMT |
| Metabolic | Cerebral Creatine deficiency syndrome | GATM |
| Metabolic | Cerebral Creatine deficiency syndrome | SLC6A8 |
| Metabolic | Cerebral folate transport deficiency | FOLR1 |
| Metabolic | Citrullinemia, Type I | ASS1 |
| Metabolic | Citrullinemia, Type II | SLC25A13 |
| Metabolic | Combined Malonic and Methylmalonic Aciduria (CMAMMA) | ACSF3 |
| Metabolic | Congenital Disorder of Glycosylation, Type IIn | SLC39A8 |
| Metabolic | CPS1 deficiency | CPS1 |
| Metabolic | Dihydrolipoamide Dehydrogenase deficiency | DLD |
| Metabolic | Fructose 1,6-biphosphatase deficiency | FBP1 |
| Metabolic | Fructose intolerance, hereditary | ALDOB |
| Metabolic | G6PD deficiency | G6PD |
| Metabolic | Galactosemia | GALE |
| Metabolic | Galactosemia | GALK1 |
| Metabolic | Galactosemia | GALT |
| Metabolic | Galactosemia IV | GALM |
| Metabolic | Gaucher disease type 1 | GBA1 |
| Metabolic | Glucocorticoid deficiency 2 (GCCD2) | MRAP |
| Metabolic | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency | NNT |
| Metabolic | Glucose/galactose malabsorption | SLC5A1 |
| Metabolic | Glutaric Aciduria type I | GCDH |
| Metabolic | Glycine encephalopathy | AMT |
| Metabolic | Glycine encephalopathy | GLDC |
| Metabolic | Glycogen Storage Disease type 0A | GYS2 |
| Metabolic | Glycogen Storage Disease type 0B | GYS1 |
| Metabolic | Glycogen Storage Disease type IA | G6PC1 |
| Metabolic | Glycogen Storage Disease type IB/IC | SLC37A4 |
| Metabolic | Glycogen Storage Disease type III | AGL |
| Metabolic | Glycogen Storage Disease type IXA | PHKA2 |
| Metabolic | Glycogen Storage Disease type IXB | PHKB |
| Metabolic | Glycogen Storage Disease type IXC | PHKG2 |
| Metabolic | Glycogen Storage Disease type VI | PYGL |
| Metabolic | Glycogen Storage Disease type XI (Fanconi-Bickel) | SLC2A2 |
| Metabolic | Holocarboxylase Synthase Deficiency | HLCS |
| Metabolic | Homocystinuria | CBS |
| Metabolic | Homocystinuria | MTHFR |
| Metabolic | Homocystinuria | MTR |
| Metabolic | Homocystinuria (CblE) | MTRR |
| Metabolic | Hunter disease | IDS |
| Metabolic | Hurler disease | IDUA |
| Metabolic | Hyperinsulinism-hyperammonemia syndrome (CHI) | GLUD1 |
| Metabolic | Hypermethioninemia | MAT1A |
| Metabolic | Hypermethioninemia | AHCY |
| Metabolic | Hypermethioninemia | ADK |
| Metabolic | Hypophosphatasia, infantile | ALPL |
| Metabolic | Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) | SLC25A15 |
| Metabolic | Imerslund-Grasbeck Syndrome 1 | CUBN |
| Metabolic | Imerslund-Grasbeck Syndrome 2 | AMN |
| Metabolic | Intrinsic Factor Deficiency (IFD) | CBLIF |
| Metabolic | Isobutyrylglycinuria | ACAD8 |
| Metabolic | Isovaleric Acidemia | IVD |
| Metabolic | Long-chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) | HADHA |
| Metabolic | Long-chain L-3 Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHAD) | HADHB |
| Metabolic | Malonic Aciduria | MLYCD |
| Metabolic | Maroteaux-Lamy syndrome | ARSB |
| Metabolic | Medium chain Acyl-CoA dehydrogenase deficiency (MCAD) | ACADM |
| Metabolic | Medium/Short-Chain L-3-HydroxyacylCoA Dehydrogenase Deficiency | HADH |
| Metabolic | Methylmalonic Acidemia | ABCD4 |
| Metabolic | Methylmalonic Acidemia | HCFC1 |
| Metabolic | Methylmalonic Acidemia | LMBRD1 |
| Metabolic | Methylmalonic Acidemia | MCEE |
| Metabolic | Methylmalonic Acidemia | MMACHC |
| Metabolic | Methylmalonic Acidemia | MMADHC |
| Metabolic | Methylmalonic Acidemia | MMUT |
| Metabolic | Methylmalonic Acidemia | TCN2 |
| Metabolic | Methylmalonic Acidemia (CblA) | MMAA |
| Metabolic | Methylmalonic Acidemia (CblB) | MMAB |
| Metabolic | Mevalonic Aciduria | MVK |
| Metabolic | Molybdenum Cofactor Deficiency, Complementation Group A | MOCS1 |
| Metabolic | Morquio disease (MPS IVA) | GALNS |
| Metabolic | MSUD | BCKDHA |
| Metabolic | MSUD | BCKDHB |
| Metabolic | MSUD | DBT |
| Metabolic | Mucopolysaccharidosis IIIa (MPS IIIb) | NAGLU |
| Metabolic | Mucopolysaccharidosis IIIa (MPS IIIc) | HGSNAT |
| Metabolic | Mucopolysaccharidosis IIIa (MPSIIIa) | SGSH |
| Metabolic | Multiple acyl-coa dehydrogenase deficiency (MADD) | ETFA |
| Metabolic | Multiple acyl-coa dehydrogenase deficiency (MADD) | ETFB |
| Metabolic | Multiple acyl-coa dehydrogenase deficiency (MADD) | ETFDH |
| Metabolic | Multiple acyl-coa dehydrogenase deficiency (MADD) | FLAD1 |
| Metabolic | NAGS deficiency | NAGS |
| Metabolic | OTC deficiency | OTC |
| Metabolic | Phenylketonuria | PAH |
| Metabolic | Phenylketonuria (BH4) | GCH1 |
| Metabolic | Phenylketonuria (BH4) | PCBD1 |
| Metabolic | Phenylketonuria (BH4) | PTS |
| Metabolic | Phenylketonuria (BH4) | QDPR |
| Metabolic | Phenylketonuria (Hyper-Phe, mild) | DNAJC12 |
| Metabolic | Pompe disease | GAA |
| Metabolic | Propionic Acidemia | PCCA |
| Metabolic | Propionic Acidemia | PCCB |
| Metabolic | Pyridoxine-Dependent Epilepsy | ALDH7A1 |
| Metabolic | Pyridoxine-Dependent Epilepsy | PNPO |
| Metabolic | Riboflavin deficiency | SLC52A1 |
| Metabolic | Riboflavin deficiency, exercise intolerance | SLC25A32 |
| Metabolic | SCOT deficiency | OXCT1 |
| Metabolic | Serine Biosynthesis defect | PHGDH |
| Metabolic | Serine Biosynthesis defect | PSAT1 |
| Metabolic | Serine Biosynthesis defect | PSPH |
| Metabolic | Serine transporter defect | SLC1A4 |
| Metabolic | Short-Chain Acyl-CoA Dehydrogenase Deficiency | ACADS |
| Metabolic | Sly (MPSVII) | GUSB |
| Metabolic | ß-Ketothiolase Deficiency | ACAT1 |
| Metabolic | Sucrase-isomaltase deficiency | SI |
| Metabolic | Tyrosinemia | FAH |
| Metabolic | Tyrosinemia | HPD |
| Metabolic | Tyrosinemia | TAT |
| Metabolic | VLCAD | ACADVL |
| Nephrology | Alport syndrome type 1, X Linked | COL4A5 |
| Nephrology | Alport syndrome type 2 | COL4A4 |
| Nephrology | Alport syndrome type 2 and 3 | COL4A3 |
| Nephrology | Congenital nephrotic syndrome, finnish | NPHS1 |
| Nephrology | Corticosterone methyloxidase type I deficiency | CYP11B2 |
| Nephrology | Cystinosis, nephropathic | CTNS |
| Nephrology | Hereditary Nephrogenic Diabetes Insipidus (NDI) | AVPR2 |
| Nephrology | Hereditary Nephrogenic Diabetes Insipidus (NDI) | AQP2 |
| Nephrology | Hypophosphatemic Rickets, X-linked | PHEX |
| Nephrology | Primary Oxaluria type 1 | AGXT |
| Nephrology | Primary Oxaluria type 2 | GRHPR |
| Nephrology | Primary Oxaluria type 3 | HOGA1 |
| Nephrology | Pseudohypoaldosteronism, type I (PHA1a) | NR3C2 |
| Nephrology | Pseudohypoaldosteronism, type I (PHA1b) | SCNN1A |
| Nephrology | Pseudohypoaldosteronism, type I (PHA1b) | SCNN1B |
| Nephrology | Pseudohypoaldosteronism, type I (PHA1b) | SCNN1G |
| Nephrology | Pseudohypoaldosteronism, type IIA | KLHL3 |
| Nephrology | Pseudohypoaldosteronism, type IIB (PHA2B) | WNK4 |
| Nephrology | Pseudohypoaldosteronism, type IIC (PHA2C) | WNK1 |
| Nephrology | Pseudohypoaldosteronism, type IIE (PHA2E) | CUL3 |
| Neurology | Acid Sphingomyelinase Deficiency | SMPD1 |
| Neurology | Ataxia with vitamin E deficiency | TTPA |
| Neurology | Bachman-Bupp syndrome (BABS) | ODC1 |
| Neurology | Brain dopamine-serotonin vesicular transport disease | SLC18A2 |
| Neurology | Ceroide Lipofuscinosis type 2 (CLN2) | TPP1 |
| Neurology | De Vivo disease | SLC2A1 |
| Neurology | Developmental and epileptic encephalopathy 82/ GOT2 deficiency | GOT2 |
| Neurology | Dopamine beta-Hydroxylase deficiency | DBH |
| Neurology | Dystonia dopa responsive | SPR |
| Neurology | Epilepsy, Early-Onset, Vitamin B6-Dependent; Epvb6d | PLPBP |
| Neurology | GRIN2B-related neurodevelopmental disorder (GRIN2B-NDD) | GRIN2B |
| Neurology | Hereditary Hyperekplexia 1 | GLRA1 |
| Neurology | Hereditary Hyperekplexia 2 | GLRB |
| Neurology | Hereditary Hyperekplexia 3 | SLC6A5 |
| Neurology | Hereditary Hyperekplexia 4 | ATAD1 |
| Neurology | Menkes disease | ATP7A |
| Neurology | Metachromatic Leukodystrophy | ARSA |
| Neurology | Myasthenic syndrome, congenital | GMPPB |
| Neurology | Myasthenic syndrome, congenital | RPH3A |
| Neurology | Myasthenic syndrome, congenital | LAMA5 |
| Neurology | Myasthenic syndrome, congenital | MACF1 |
| Neurology | Myasthenic syndrome, congenital, 10 | DOK7 |
| Neurology | Myasthenic syndrome, congenital, 11 | RAPSN |
| Neurology | Myasthenic syndrome, congenital, 11 | GFPT1 |
| Neurology | Myasthenic syndrome, congenital, 13, with tubular aggregates | DPAGT1 |
| Neurology | Myasthenic syndrome, congenital, 14 | ALG2 |
| Neurology | Myasthenic syndrome, congenital, 15 | ALG14 |
| Neurology | Myasthenic syndrome, congenital, 17 | LRP4 |
| Neurology | Myasthenic syndrome, congenital, 18 | SNAP25 |
| Neurology | Myasthenic syndrome, congenital, 19 | COL13A1 |
| Neurology | Myasthenic syndrome, congenital, 1A slow channel or 1B fast channel | CHRNA1 |
| Neurology | Myasthenic syndrome, congenital, 20, presynaptic | SLC5A7 |
| Neurology | Myasthenic syndrome, congenital, 21, presynaptic | SLC18A3 |
| Neurology | Myasthenic syndrome, congenital, 22 | PREPL |
| Neurology | Myasthenic syndrome, congenital, 23, presynaptic | SLC25A1 |
| Neurology | Myasthenic syndrome, congenital, 24, presynaptic | MYO9A |
| Neurology | Myasthenic syndrome, congenital, 25 | VAMP1 |
| Neurology | Myasthenic syndrome, congenital, 2A, slow-channel | CHRNB1 |
| Neurology | Myasthenic syndrome, congenital, 3B, fast-channel | CHRND |
| Neurology | Myasthenic syndrome, congenital, 4c, | ACHRE |
| Neurology | Myasthenic syndrome, congenital, 5 | COLQ |
| Neurology | Myasthenic syndrome, congenital, 6, presynaptic | CHAT |
| Neurology | Myasthenic syndrome, congenital, 7, presynaptic | SYT2 |
| Neurology | Myasthenic syndrome, congenital, 8, postsynaptic | AGRN |
| Neurology | Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency | MUSK |
| Neurology | Myasthenic syndrome, congenital, with epidermolysis bullosa | PLEC |
| Neurology | Myasthenic syndrome, MUNC13-1 | UNC13A |
| Neurology | Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy | PDXK |
| Neurology | Nijmegen Breakage Syndrome | NBN |
| Neurology | Primary aldosteronism, seizures, and neurologic abnormalities (CHI) | CACNA1D |
| Neurology | Segawa syndrome | TH |
| Neurology | Smith-Lemli-Opitz syndrome | DHCR7 |
| Neurology | Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) | SLC19A3 |
| Neurology | Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type) | SLC25A19 |
| Neurology | Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) | TPK1 |
| Neurology | X-Adrenoleukodystrophy | ABCD1 |
| Ophtalmology | Familial Exudative Vitreoretinopathy (FEVR) | FZD4 |
| Ophtalmology | Familial Exudative Vitreoretinopathy (FEVR) | LRP5 |
| Ophtalmology | Familial Exudative Vitreoretinopathy (FEVR) | TSPAN12 |
| Ophtalmology | Familial Exudative Vitreoretinopathy (FEVR) | ZNF408 |
| Ophtalmology | Familial Exudative Vitreoretinopathy (FEVR) | KIF11 |
| Ophtalmology | Familial Exudative Vitreoretinopathy (FEVR) | RCBTB1 |
| Ophtalmology | Norrie disease | NDP |
| Ophtalmology | Primary congenital glaucoma | CYP1B1 |
| Ophtalmology | Primary congenital glaucoma | LTBP2 |
| Ophtalmology | Retinoblastoma | RB1 |
| Ophtalmology | Severe early childhood onset retinal dystrophy (SECORD) | RPE65 |