{"id":23990,"date":"2024-06-11T12:36:49","date_gmt":"2024-06-11T12:36:49","guid":{"rendered":"https:\/\/babydetect.be\/?p=23990"},"modified":"2024-06-13T07:20:42","modified_gmt":"2024-06-13T07:20:42","slug":"pannel-v1-english-2","status":"publish","type":"post","link":"https:\/\/www.babydetect.be\/en\/pannel-v1-english-2\/","title":{"rendered":"Panel V1"},"content":{"rendered":"

Le panel V1 comportant 360 genes ou 126 maladies a \u00e9t\u00e9 utilis\u00e9 du 01\/09\/2022 au 25\/02\/2024.<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Speciality<\/td>\nDisorders<\/td>\nGene<\/td>\nInheritance<\/td>\n<\/tr>\n
Cardiology<\/td>\nCardiomyopathy, dilated 1MM or Cardiomyopathy Hypertrophic 4<\/td>\nMYBPC3<\/td>\ndominant<\/td>\n<\/tr>\n
Cardiology<\/td>\nCardiomyopathy, dilated 1S or Cardiomyopathy Hypertrophic 1<\/td>\nMYH7<\/td>\ndominant<\/td>\n<\/tr>\n
Cardiology<\/td>\nLong QT syndrome 1 or Jervell and Lange-Nielsen syndrome<\/td>\nKCNQ1<\/td>\ndominant\/ recessive<\/td>\n<\/tr>\n
Cardiology<\/td>\nLong QT syndrome 5<\/td>\nKCNE1<\/td>\ndominant\/ recessive<\/td>\n<\/tr>\n
Cardiology<\/td>\nShort QT syndrome 3 or Andersen Tawil syndrome or LQT syndrome 7<\/td>\nKCNJ2<\/td>\ndominant\/ recessive<\/td>\n<\/tr>\n
Cardiology<\/td>\nTimothy syndrome or LQT8<\/td>\nCACNA1C<\/td>\ndominant<\/td>\n<\/tr>\n
Cardiology<\/td>\nVentricular tachycardia, catecholaminergic polymorphic (CPVT) or LQT4<\/td>\nANK2<\/td>\ndominant<\/td>\n<\/tr>\n
Cardiology<\/td>\nVentricular tachycardia, catecholaminergic polymorphic (CPVT)\/\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 CALM-mediated arrhythmia syndrome<\/td>\nCALM2<\/td>\ndominant<\/td>\n<\/tr>\n
Cardiology<\/td>\nVentricular tachycardia, catecholaminergic polymorphic (CPVT)\/\u00a0\u00a0\u00a0\u00a0\u00a0\u00a0 CALM-mediated arrhythmia syndrome<\/td>\nCALM3<\/td>\ndominant<\/td>\n<\/tr>\n
Cardiology<\/td>\nVentricular tachycardia, catecholaminergic polymorphic, 1 (CPVT)<\/td>\nRYR2<\/td>\ndominant<\/td>\n<\/tr>\n
Cardiology<\/td>\nVentricular tachycardia, catecholaminergic polymorphic, 2 (CPVT)<\/td>\nCASQ2<\/td>\nrecessive<\/td>\n<\/tr>\n
Cardiology<\/td>\nVentricular tachycardia, catecholaminergic polymorphic, 3<\/td>\nTECRL<\/td>\ndominant<\/td>\n<\/tr>\n
Cardiology<\/td>\nVentricular tachycardia, catecholaminergic polymorphic, 4 (CPVT)<\/td>\nCALM1<\/td>\ndominant<\/td>\n<\/tr>\n
Cardiology<\/td>\nVentricular tachycardia, catecholaminergic polymorphic, 5 (CPVT)<\/td>\nTRDN<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nFamilial Hyperinsulinemic hypoglycemia\u00a0 (CHI)<\/td>\nHK1<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nFamilial Hyperinsulinemic hypoglycemia (CHI)<\/td>\nUCP2<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nFamilial Hyperinsulinemic hypoglycemia (CHI)\/ CDG1t<\/td>\nPGM1<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nFamilial Hyperinsulinemic hypoglycemia 1 (CHI)<\/td>\nABCC8<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nFamilial Hyperinsulinemic hypoglycemia 2 (CHI)\/ MODY type 13<\/td>\nKCNJ11<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nFamilial Hyperinsulinemic hypoglycemia 3 (CHI)<\/td>\nGCK<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nFamilial Hyperinsulinemic hypoglycemia 5 (CHI)<\/td>\nINSR<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nFamilial Hyperinsulinemic hypoglycemia 8, exercise-induced (CHI)<\/td>\nSLC16A1<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nMODY type I<\/td>\nHNF4A<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nMODY type III<\/td>\nHNF1A<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nPituitary hormone deficiency, combined, 1<\/td>\nPOU1F1<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nPituitary hormone deficiency, combined, 2<\/td>\nPROP1<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Adrenal Hyperplasia<\/td>\nCYP11A1<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Adrenal Hyperplasia<\/td>\nCYP11B1<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Adrenal Hyperplasia<\/td>\nCYP17A1<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Adrenal Hyperplasia<\/td>\nCYP21A2<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Adrenal Hyperplasia<\/td>\nHSD3B2<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Adrenal Hyperplasia<\/td>\nStAR<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Adrenal Hyperplasia\/ Antley Bixler syndrome<\/td>\nPOR<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism<\/td>\nDUOX1<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism<\/td>\nDUOXA1<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism<\/td>\nFOXE1<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism<\/td>\nGLIS3<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism<\/td>\nGNAS<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism<\/td>\nNKX2-1<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism<\/td>\nNKX2-5<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism<\/td>\nSECISBP2<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism<\/td>\nTHRA<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism<\/td>\nTHRB<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism<\/td>\nUBR1<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (Genitopatellar sd)<\/td>\nKAT6B<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (nongoitrous 1)<\/td>\nTSHR<\/td>\ndominant\/ recessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (Pendred)<\/td>\nFOXI1<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (Pendred)<\/td>\nKCNJ10<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (Pendred)<\/td>\nSLC26A4<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (thyroid dysgenesis)<\/td>\nHHEX<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (thyroid dysgenesis)<\/td>\nPAX8<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (thyroid dysgenesis)<\/td>\nTUBB1<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (thyroid dyshormonogenesis-1)<\/td>\nSLC5A5<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (thyroid dyshormonogenesis-2A)<\/td>\nTPO<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (thyroid dyshormonogenesis-3)<\/td>\nTG<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (thyroid dyshormonogenesis-4)<\/td>\nIYD<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (thyroid dyshormonogenesis-5)<\/td>\nDUOXA2<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCongenital Hypothyroidism (thyroid dyshormonogenesis-6)<\/td>\nDUOX2<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nCystic Fibrosis<\/td>\nCFTR<\/td>\nrecessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nDeficit in Anterior Pituitary Function And Variable Immunodeficiency (DAVID)<\/td>\nNFKB2<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nHyperinsulinism-hyperammonemia syndrome (CHI)<\/td>\nGLUD1<\/td>\ndominant<\/td>\n<\/tr>\n
Endocrinology<\/td>\nHypophosphatasia, infantile<\/td>\nALPL<\/td>\ndominant\/ recessive<\/td>\n<\/tr>\n
Endocrinology<\/td>\nPrimary aldosteronism, seizures, and neurologic abnormalities (CHI)<\/td>\nCACNA1D<\/td>\ndominant\/ recessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\n\u00a0Crigler-Najjar syndrome<\/td>\nUGT1A1<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nAlpha1-Antitrypsin deficiency<\/td>\nSERPINA1<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nCongenital diarrhea<\/td>\nDGAT1<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nCongenital diarrhea<\/td>\nNEUROG3<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nCongenital diarrhea<\/td>\nSLC26A3<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nCongenital Sodium diarrhea<\/td>\nSLC9A3<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nFamilial chylomicronemia<\/td>\n\u00a0LPL<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nFamilial chylomicronemia<\/td>\nAPOA5<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nFamilial chylomicronemia<\/td>\nAPOC2<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nFamilial chylomicronemia<\/td>\nGPIHBP1<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nFamilial chylomicronemia<\/td>\nLMF1<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nLysosomal\u00a0Acid\u00a0Lipase\u00a0Deficiency<\/td>\nLIPA<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nProgressive familial intrahepatic cholestasis (PFIC1)<\/td>\nATP8B1<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nProgressive familial intrahepatic cholestasis (PFIC2)<\/td>\nABCB11<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nProgressive familial intrahepatic cholestasis (PFIC3)<\/td>\nABCB4<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nProgressive familial intrahepatic cholestasis (PFIC4)<\/td>\nTJP2<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nProgressive familial intrahepatic cholestasis (PFIC5)<\/td>\nNR1H4<\/a><\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nProgressive familial intrahepatic cholestasis (PFIC6)<\/td>\nMYO5B<\/a><\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nShwachman-Diamond syndrome 1<\/td>\nSBDS<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nShwachman-Diamond syndrome 2<\/td>\nEFL1<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nShwachman-Diamond syndrome-like<\/td>\nSRP54<\/td>\ndominant<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nShwachman-Diamond syndrome\/ Bone marrow failure syndrome\u00a0 3<\/td>\nDNAJC21<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nVery-early onset Inflammatory Bowel Disease (VEOIBD)<\/td>\nIL10RA<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nVery-early onset Inflammatory Bowel Disease (VEOIBD)<\/td>\nIL10RB<\/td>\nrecessive<\/td>\n<\/tr>\n
Gastroenterology<\/td>\nWilson disease<\/td>\nATP7B<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nAnemia, X-linked, with\/without neutropenia and\/or platelet abnormalities<\/td>\nGATA1<\/td>\nX linked<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia<\/td>\nRPL31<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia<\/td>\nTSR2<\/td>\nX linked<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 1<\/td>\nRPS19<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 10<\/td>\nRPS26<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 11<\/td>\nRPL26<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 12<\/td>\nRPL15<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 13<\/td>\nRPS29<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 15<\/td>\nRPS28<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 16<\/td>\nRPL27<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 17<\/td>\nRPS27<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 18<\/td>\nRPL18<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 19<\/td>\nRPL35<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 20<\/td>\nRPS15A<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 3<\/td>\nRPS24<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 4<\/td>\nRPS17<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 5<\/td>\nRPL35A<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 6<\/td>\nRPL5<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 7<\/td>\nRPL11<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 8<\/td>\nRPS7<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nDiamond-Blackfan anemia 9<\/td>\nRPS10<\/td>\ndominant<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nERCC4<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nFANCA<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nFANCB<\/td>\nX linked<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nFANCC<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nFANCD2<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nFANCE<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nFANCF<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nFANCI<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nFANCL<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nFANG<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nMAD2L2<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nSLX4<\/td>\nrcessive<\/td>\n<\/tr>\n
Hematology<\/td>\nFanconi anemia<\/td>\nUBE2T<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nG6PD deficiency<\/td>\nG6PD<\/td>\nX linked<\/td>\n<\/tr>\n
Hematology<\/td>\nHemoglobin disorders<\/td>\nHBA1<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nHemoglobin disorders<\/td>\nHBA2<\/td>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
recessive<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/td>\n<\/tr>\n
Hematology<\/td>\nHemoglobin disorders<\/td>\nHBB<\/td>\nrecessive<\/td>\n<\/tr>\n
Hematology<\/td>\nHemophilia A<\/td>\nF8<\/td>\nX linked<\/td>\n<\/tr>\n
Hematology<\/td>\nHemophilia B<\/td>\nF9<\/td>\nX linked<\/td>\n<\/tr>\n
Hematology<\/td>\nWiscott-Aldrich syndrome<\/td>\nWAS<\/td>\nX linked<\/td>\n<\/tr>\n
Hematology<\/td>\nWiscott-Aldrich syndrome 2<\/td>\nWIPF1<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nChediak-Higashi syndrome<\/td>\nLYST<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nChronic granulomatous disease 1 (CGD)<\/td>\nNCF1<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nChronic granulomatous disease 2 (CGD)<\/td>\nNCF2<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nChronic granulomatous disease 3 (CGD)<\/td>\nNCF4<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nChronic granulomatous disease 4 (CGD)<\/td>\nCYBA<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nChronic granulomatous disease, X linked (CGD)<\/td>\nCYBB<\/td>\nX linked<\/td>\n<\/tr>\n
Immunology<\/td>\nGriscelli syndrome 1<\/td>\nMYO5A<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nGriscelli syndrome 2<\/td>\nRAB27A<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nHemophagocytic lymphohistiocytosis, familial, 2<\/td>\nPRF1<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nHemophagocytic lymphohistiocytosis, familial, 3<\/td>\nUNC13D<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nHemophagocytic lymphohistiocytosis, familial, 4<\/td>\nSTX11<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nHemophagocytic lymphohistiocytosis, familial, 5<\/td>\nSTXBP2<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nADA<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nAK2<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nCD247<\/a><\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nCD3D<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nCD3E<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nCD3G<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nCIITA<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nCORO1A<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nDCLRE1C<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nFOXN1<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nIL2RG<\/td>\nX linked<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nIL7R<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nJAK3<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nLCK<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nLIG4<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nPRKDC<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nPTPRC<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nRAc2<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nRAG1<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nRAG2<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nRFX5<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nRFXANK<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nRFXAP<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID<\/td>\nZAP70<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID – IMD40<\/td>\nDOCK2<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSCID – IMD52<\/td>\nLAT<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSevere congenital neutropenia 1<\/td>\nELANE<\/td>\ndominant<\/td>\n<\/tr>\n
Immunology<\/td>\nSevere congenital neutropenia 2<\/td>\nGFI1<\/td>\ndominant<\/td>\n<\/tr>\n
Immunology<\/td>\nSevere congenital neutropenia 3<\/td>\nHAX1<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSevere congenital neutropenia 4 (Dursun syndrome)<\/td>\nG6PC3<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSevere congenital neutropenia 5<\/td>\nVPS45<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSevere congenital neutropenia 6<\/td>\nJAGN1<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSevere congenital neutropenia 7<\/td>\nCSF3R<\/td>\nrecessive<\/td>\n<\/tr>\n
Immunology<\/td>\nSevere congenital neutropenia 8<\/td>\nSRP54<\/td>\ndominant<\/td>\n<\/tr>\n
Metabo<\/td>\n2-Methylbutyrylglycinuria (SBCAD)<\/td>\nACADSB<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\n2,4 Dienoyl-CoA Reductase Deficiency<\/td>\nNADK2<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\n3-HMG-CoA synthase-2 deficiency<\/td>\nHMGCS2<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\n3-Hydroxy-3-Methyglutaric
\nAciduria (HMGCoAliase)<\/td>\n		HMGCL<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\n3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)<\/td>\nMCCC1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\n3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC)<\/td>\nMCCC2<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nACAD9 deficiency<\/td>\nACAD9<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nArgininemia<\/td>\nARG1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nArgininosuccinic Aciduria<\/td>\nASL<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nBiotinidase deficiency<\/td>\nBTD<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nBranched-chain keto acid dehydrogenase kinase deficiency<\/td>\nBCKDK<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nBrown-Vialetto-Van Laere syndrome 1<\/td>\nSLC52A3<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nBrown-Vialetto-Van Laere syndrome 2<\/td>\nSLC52A2<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nCarnitine Acylcarnitine Translocase Deficiency<\/td>\nSLC25A20<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nCarnitine Palmitoyltransferase Type I
\nDeficiency (CPT1)<\/td>\n		CPT1A<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nCarnitine Palmitoyltransferase Type II Deficiency (CPT2)<\/td>\nCPT2<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nCarnitine Uptake Defect\/Carnitine
\nTransport Defect<\/td>\n		SLC22A5<\/td>\n\n\n\n\n\n
recessive<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/td>\n<\/tr>\n
Metabo<\/td>\nCerebral Creatine deficiency syndrome<\/td>\nGAMT<\/td>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
recessive<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/td>\n<\/tr>\n
Metabo<\/td>\nCerebral Creatine deficiency syndrome<\/td>\nGATM<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nCerebral Creatine deficiency syndrome<\/td>\nSLC6A8<\/td>\nX linked<\/td>\n<\/tr>\n
Metabo<\/td>\nCitrullinemia, Type I<\/td>\nASS1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nCitrullinemia, Type II<\/td>\nSLC25A13<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nCombined Malonic and Methylmalonic\u00a0 Aciduria (CMAMMA)<\/td>\nACSF3<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nCPS1 deficiency<\/td>\nCPS1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nFructose 1,6-biphosphatase deficiency<\/td>\nFBP1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nFructose intolerance, hereditary<\/td>\nALDOB<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGalactosemia<\/td>\nGALE<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGalactosemia<\/td>\nGALK1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGalactosemia<\/td>\nGALT<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGalactosemia IV<\/td>\nGALM<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGaucher disease type 1<\/td>\nGBA<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlucose\/galactose malabsorption<\/td>\nSLC5A1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlutaric Aciduria type I<\/td>\nGCDH<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlycine encephalopathy<\/td>\nAMT<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlycine encephalopathy<\/td>\nGLDC<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlycogen Storage Disease type 0A<\/td>\nGYS2<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlycogen Storage Disease type 0B<\/td>\nGYS1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlycogen Storage Disease type IA<\/td>\nG6PC<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlycogen Storage Disease type IB\/IC<\/td>\nSLC37A4<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlycogen Storage Disease type III<\/td>\nAGL<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlycogen Storage Disease type IXA<\/td>\nPHKA2<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlycogen Storage Disease type IXB<\/td>\nPHKB<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlycogen Storage Disease type IXC<\/td>\nPHKG2<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlycogen Storage Disease type VI<\/td>\nPYGL<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nGlycogen Storage Disease type XI (Fanconi-Bickel)<\/td>\nSLC2A2<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nHolocarboxylase Synthase Deficiency<\/td>\nHLCS<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nHomocystinuria<\/td>\nCBS<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nHomocystinuria<\/td>\nMTHFR<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nHomocystinuria<\/td>\nMTR<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nHomocystinuria (CblE)<\/td>\nMTRR<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nHunter disease\u00a0 (MPS II)<\/td>\nIDS<\/td>\nX linked<\/td>\n<\/tr>\n
Metabo<\/td>\nHurler disease\u00a0 (MPS I)<\/td>\nIDUA<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nHypermethioninemia<\/td>\nADK<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nHypermethioninemia<\/td>\nAHCY<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nHypermethioninemia<\/td>\nMAT1A<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Metabo<\/td>\nHyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH)<\/td>\nSLC25A15<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nIsobutyrylglycinuria<\/td>\nACAD8<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nIsovaleric Acidemia<\/td>\nIVD<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nLong-chain L-3 Hydroxyacyl-CoA
\nDehydrogenase Deficiency (LCHAD)<\/td>\n		HADHA<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nLong-chain L-3 Hydroxyacyl-CoA
\nDehydrogenase Deficiency (Trifunctional Protein Deficiency)<\/td>\n		HADHB<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMalonic Aciduria<\/td>\nMLYCD<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMaroteaux-Lamy syndrome (MPS VI)<\/td>\nARSB<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMedium chain Acyl-CoA dehydrogenase deficiency (MCAD)<\/td>\nACADM<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMedium\/Short-Chain L-3-HydroxyacylCoA
\nDehydrogenase Deficiency<\/td>\n		HADH<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMethylmalonic Acidemia<\/td>\nABCD4<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMethylmalonic Acidemia<\/td>\nHCFC1<\/td>\nX linked<\/td>\n<\/tr>\n
Metabo<\/td>\nMethylmalonic Acidemia<\/td>\nLMBRD1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMethylmalonic Acidemia<\/td>\nMCEE<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMethylmalonic Acidemia<\/td>\nMMACHC<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMethylmalonic Acidemia<\/td>\nMMADHC<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMethylmalonic Acidemia<\/td>\nMMUT<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMethylmalonic Acidemia<\/td>\nTCN2<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMethylmalonic Acidemia (CblA)<\/td>\nMMAA<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMethylmalonic Acidemia (CblB)<\/td>\nMMAB<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMorquio disease (MPS IVA)<\/td>\nGALNS<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMSUD<\/td>\nBCKDHA<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMSUD<\/td>\nBCKDHB<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMSUD<\/td>\nDBT<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMultiple acyl-coa dehydrogenase deficiency (MADD)<\/td>\nETFA<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMultiple acyl-coa dehydrogenase deficiency (MADD)<\/td>\nETFB<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMultiple acyl-coa dehydrogenase deficiency (MADD)<\/td>\nETFDH<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nMultiple acyl-coa dehydrogenase deficiency (MADD)<\/td>\nFLAD1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nNAGS deficiency<\/td>\nNAGS<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nOTC deficiency<\/td>\nOTC<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nPhenylketonuria (BH4)<\/td>\nGCH1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nPhenylketonuria (BH4)<\/td>\nPCBD1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nPhenylketonuria (BH4)<\/td>\nPTS<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nPhenylketonuria (BH4)<\/td>\nQDPR<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nPhenylketonuria (Hyper-Phe, mild)<\/td>\nDNAJC12<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nPhenylketonuria (PKU)<\/td>\nPAH<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nPompe disease<\/td>\nGAA<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nPropionic Acidemia<\/td>\nPCCA<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nPropionic Acidemia<\/td>\nPCCB<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nPyridoxine-Dependent Epilepsy<\/td>\nALDH7A1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nPyridoxine-Dependent Epilepsy<\/td>\nPNPO<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nRiboflavin deficiency<\/td>\nSLC52A1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nRiboflavin deficiency, exercise intolerance<\/td>\nSLC25A32<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nSCOT deficiency<\/td>\nOXCT1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nSerine Biosynthesis defect<\/td>\nPHGDH<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nSerine Biosynthesis defect<\/td>\nPSAT1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nSerine Biosynthesis defect<\/td>\nPSPH<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nSerine transporter defect<\/td>\nSLC1A4<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nShort-Chain Acyl-CoA Dehydrogenase
\nDeficiency<\/td>\n		ACADS<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nSly (MPSVII)<\/td>\nGUSB<\/td>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
recessive<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/td>\n<\/tr>\n
Metabo<\/td>\n\u00df-Ketothiolase Deficiency<\/td>\nACAT1<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nSucrase-isomaltase deficiency<\/td>\nSI<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nTyrosinemia 1<\/td>\nFAH<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nTyrosinemia 2<\/td>\nHPD<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nTyrosinemia 3<\/td>\nTAT<\/td>\nrecessive<\/td>\n<\/tr>\n
Metabo<\/td>\nVLCAD<\/td>\nACADVL<\/td>\nrecessive<\/td>\n<\/tr>\n
Nephrology<\/td>\nAlport syndrome type 1, X Linked<\/td>\nCOL4A5<\/td>\nX linked<\/td>\n<\/tr>\n
Nephrology<\/td>\nAlport syndrome type 2<\/td>\nCOL4A4<\/td>\nrecessive<\/td>\n<\/tr>\n
Nephrology<\/td>\nAlport syndrome type 2 and 3<\/td>\nCOL4A3<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Nephrology<\/td>\nCongenital nephrotic syndrome, finnish<\/td>\nNPHS1<\/td>\nrecessive<\/td>\n<\/tr>\n
Nephrology<\/td>\nCystinosis, nephropathic<\/td>\nCTNS<\/td>\nrecessive<\/td>\n<\/tr>\n
Nephrology<\/td>\nHereditary Nephrogenic Diabetes Insipidus (NDI)<\/td>\nAQP2<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Nephrology<\/td>\nHereditary Nephrogenic Diabetes Insipidus (NDI)<\/td>\nAVPR2<\/td>\nX linked<\/td>\n<\/tr>\n
Nephrology<\/td>\nHypophosphatemic Rickets, X-linked<\/td>\nPHEX<\/td>\nX linked<\/td>\n<\/tr>\n
Nephrology<\/td>\nPrimary Oxaluria type 1<\/td>\nAGXT<\/td>\nrecessive<\/td>\n<\/tr>\n
Nephrology<\/td>\nPrimary Oxaluria type 2<\/td>\nGRHPR<\/td>\nrecessive<\/td>\n<\/tr>\n
Nephrology<\/td>\nPrimary Oxaluria type 3<\/td>\nHOGA1<\/td>\nrecessive<\/td>\n<\/tr>\n
Nephrology<\/td>\nPseudohypoaldosteronism, type I (PHA1a)<\/td>\nNR3C2<\/td>\ndominant<\/td>\n<\/tr>\n
Nephrology<\/td>\nPseudohypoaldosteronism, type I (PHA1b)<\/td>\nSCNN1A<\/td>\nrecessive<\/td>\n<\/tr>\n
Nephrology<\/td>\nPseudohypoaldosteronism, type I (PHA1b)<\/td>\nSCNN1B<\/td>\nrecessive<\/td>\n<\/tr>\n
Nephrology<\/td>\nPseudohypoaldosteronism, type I (PHA1b)<\/td>\nSCNN1G<\/td>\nrecessive<\/td>\n<\/tr>\n
Nephrology<\/td>\nPseudohypoaldosteronism, type IIB (PHA2B)<\/td>\nWNK4<\/td>\ndominant<\/td>\n<\/tr>\n
Nephrology<\/td>\nPseudohypoaldosteronism, type IIC (PHA2C)<\/td>\nWNK1<\/td>\ndominant<\/td>\n<\/tr>\n
Nephrology<\/td>\nPseudohypoaldosteronism, type IID (PHA2D)<\/td>\nKLHL3<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Nephrology<\/td>\nPseudohypoaldosteronism, type IIE (PHA2E)<\/td>\nCUL3<\/td>\ndominant<\/td>\n<\/tr>\n
Neurology<\/td>\nAromatic L-amino acid decarboxylase deficiency<\/td>\nDDC<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nAtaxia with vitamin E deficiency<\/td>\nTTPA<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nBrain dopamine-serotonin vesicular transport disease<\/td>\nSLC18A2<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nCerebral folate transport deficiency<\/td>\nFOLR1<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nCeroide Lipofuscinosis type 2 (CLN2)<\/td>\nTPP1<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nDe Vivo disease<\/td>\nSLC2A1<\/td>\ndominant\/ rare AR<\/td>\n<\/tr>\n
Neurology<\/td>\nDevelopmental and epileptic encephalopathy 82\/ GOT2 deficiency<\/td>\nGOT2<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nDopamine beta-Hydroxylase deficiency<\/td>\nDBH<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nDystonia dopa responsive<\/td>\nSPR<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nHereditary Hyperekplexia 1<\/td>\nGLRA1<\/td>\nrecessive and dominant<\/td>\n<\/tr>\n
Neurology<\/td>\nHereditary Hyperekplexia 2<\/td>\nGLRB<\/td>\nrecessive and dominant<\/td>\n<\/tr>\n
Neurology<\/td>\nHereditary Hyperekplexia 3<\/td>\nSLC6A5<\/td>\nrecessive and rare dominant<\/td>\n<\/tr>\n
Neurology<\/td>\nMenkes disease<\/td>\nATP7A<\/td>\nX linked<\/td>\n<\/tr>\n
Neurology<\/td>\nMetachromatic Leukodystrophy<\/td>\nARSA<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital<\/td>\n\u00a0GMPPB<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital<\/td>\nLAMA5<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital<\/td>\nMACF1<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital<\/td>\nRPH3A<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 10<\/td>\nDOK7<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 11<\/td>\nGFPT1<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 11<\/td>\nRAPSN<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 13, with tubular aggregates<\/td>\nDPAGT1<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 14<\/td>\nALG2<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 15<\/td>\nALG14<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 17<\/td>\nLRP4<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 18<\/td>\nSNAP25<\/td>\ndominant<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 19<\/td>\nCOL13A1<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 1A slow channel or 1B fast channel<\/td>\nCHRNA1<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 20, presynaptic<\/td>\nSLC5A7<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 21, presynaptic<\/td>\nSLC18A3<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 22<\/td>\nPREPL<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 23, presynaptic<\/td>\nSLC25A1<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 24, presynaptic<\/td>\nMYO9A<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 25<\/td>\nVAMP1<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 2A, slow-channel<\/td>\nCHRNB1<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 3B, fast-channel<\/td>\nCHRND<\/td>\nrecessive\/ dominant<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic\u00a0syndrome,\u00a0congenital, 4c,<\/td>\nACHRE<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 5<\/td>\nCOLQ<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 6, presynaptic<\/td>\nCHAT<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 7, presynaptic<\/td>\nSYT2<\/td>\ndominant<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 8, postsynaptic<\/td>\nAGRN<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency<\/td>\nMUSK<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, congenital, with epidermolysis bullosa<\/td>\nPLEC<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nMyasthenic syndrome, MUNC13-1 (UNC13A)<\/td>\nUNC13-1<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nNeuropathy, hereditary motor and sensory, type VIC, with optic atrophy<\/td>\nPDXK<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nSegawa syndrome<\/td>\nTH<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nSmith-Lemli-Opitz syndrome<\/td>\nDHCR7<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nSpinal Muscular Atrophy<\/td>\nSMN1<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nSpinal Muscular Atrophy<\/td>\nSMN2<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nThiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)<\/td>\nSLC19A3<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nThiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)<\/td>\nSLC25A19<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nThiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)<\/td>\nTPK1<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nThiamine-responsive megaloblastic anemia syndrome<\/td>\nSLC19A2<\/td>\nrecessive<\/td>\n<\/tr>\n
Neurology<\/td>\nX-Adrenoleukodystrophy<\/td>\nABCD1<\/td>\nX linked<\/td>\n<\/tr>\n
Onco \/ OPH<\/td>\nRetinoblastoma<\/td>\nRB1<\/td>\ndominant<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n","protected":false},"excerpt":{"rendered":"

Le panel V1 comportant 360 genes ou 126 maladies a \u00e9t\u00e9 utilis\u00e9 du 01\/09\/2022 au 25\/02\/2024. Speciality Disorders 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…<\/p>\n","protected":false},"author":4,"featured_media":23924,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[75],"tags":[],"_links":{"self":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/23990"}],"collection":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/users\/4"}],"replies":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/comments?post=23990"}],"version-history":[{"count":3,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/23990\/revisions"}],"predecessor-version":[{"id":24058,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/posts\/23990\/revisions\/24058"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media\/23924"}],"wp:attachment":[{"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/media?parent=23990"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/categories?post=23990"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.babydetect.be\/en\/wp-json\/wp\/v2\/tags?post=23990"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}