繁體中文Monogenic diseases
List of monogenic diseases that our PGT lab has worked on
| DiseaseName | InheritanceMode | MIMnumber |
|---|---|---|
| 15q11.2 deletion syndrome | Autosomal dominant | 615656 |
| 16p13.11 microdeletion syndrome | Autosomal dominant | 261236 |
| Aicardi-Goutieres syndrome | Autosomal recessive | 610329 |
| Alpha-thalassemia | Autosomal recessive | 604131 |
| Androgen Insensitivity syndrome | X-linked recessive | 300068 |
| Autosomal dominant polycystic kidney disease | Autosomal dominant | 173900 |
| Becker muscular dystrophy | X-linked recessive | 300376 |
| Beta-thalassemia | Autosomal recessive | 613985 |
| Branchiootorenal Syndrome 1 | Autosomal dominant | 113650 |
| Breast cancer | Autosomal dominant | 612555 |
| breast-ovarian cancer | Autosomal dominant | 604370 |
| Charcot-Marie-Tooth Disease | X-linked dominant | 302800 |
| Cleidocranial Dysplasia | Autosomal dominant | 119600 |
| Congenital adrenal hyperplasia | Autosomal recessive | 201910 |
| Congenital dyserythropoietic anaemia | Autosomal recessive | 613673 |
| Cystic fibrosis | Autosomal recessive | 219700 |
| Dilated cardiomyopathy | Autosomal dominant | 613426 |
| Distal Arthrogryposis type 2B1 | Autosomal dominant | 601680 |
| Duchenne muscular dystrophy | X-linked recessive | 310200 |
| Ehlers-Danlos syndrome, classic type | Autosomal dominant | 130000 |
| Familial adenomatosis polyposis | Autosomal dominant | 175100 |
| Familial amyloidotic polyneuopathy | Autosomal dominant | 105210 |
| Fragile X syndrome | X-linked dominant | 300624 |
| GJB2-related DFNB1 nonsyndromic hearing loss and deafness | Autosomal recessive | 220290 |
| Glutaric Aciduria type II | Autosomal recessive | 231680 |
| Glycine Encephalopahty | Autosomal recessive | 605899 |
| Glycogen Storage Disease Ib | Autosomal recessive | 232220 |
| Glycogen storage disease II | Autosomal recessive | 232300 |
| Haemophilia A | X-linked recessive | 306700 |
| Hereditary Multiple Osteochondromas | Autosomal dominant | 133700 |
| Hereditary Multiple Osteochondromas | Autosomal dominant | 608177 |
| HLA typing | – | – |
| Huntington’s Disease | Autosomal dominant | 143100 |
| Hypertrophic cardiomyopathy | Autosomal dominant | 192600 |
| Hypohydrotic ectodermal dysplasia | X-linked recessive | 305100 |
| Lynch Syndrome I | Autosomal dominant | 120435 |
| Lynch Syndrome II | Autosomal dominant | 609310 |
| Marfan Syndrome | Autosomal dominant | 154700 |
| MEGDEL syndrome | Autosomal recessive | 614739 |
| Metachromatic leukodystrophy | Autosomal recessive | 250100 |
| Mitochondrial Complex I deficiency | Autosomal recessive | 252010 |
| Mitochondrial myopathy and ataxia | Autosomal recessive | 617675 |
| Multiple Endocrine Neoplasia type I syndrome | Autosomal dominant | 131100 |
| Multiple exostoses type II | Autosomal dominant | 133701 |
| Myotonic Dystrophy type 1 | Autosomal dominant | 160900 |
| Nemaline Myopathy | Autosomal recessive | 615348 |
| Neonatal Intrahepatic caused by citrin deficiency | Autosomal recessive | 605814 |
| Neurofibromatosis type I | Autosomal dominant | 162200 |
| Niemann-Pick Disease Type A | Autosomal recessive | 257200 |
| Niemann-Pick Disease Type B | Autosomal recessive | 607616 |
| Noonan Syndrome 1 | Autosomal dominant | 163950 |
| Opitz/GBBB syndrome | X-linked recessive | 300000 |
| Osteogenesis Imperfecta | Autosomal dominant | 166200 |
| Osteogenesis Imperfecta type III | Autosomal dominant | 259420 |
| Osteogenesis Imperfecta type IV | Autosomal dominant | 166220 |
| Peutz-Jeghers Syndrome | Autosomal dominant | 175200 |
| Phenylketonuria | Autosomal recessive | 261600 |
| Pheochromocytoma | Autosomal dominant | 171300 |
| Propionic acidemia | Autosomal recessive | 606054 |
| Pyridoxamine 5′-phosphate oxidase deficiency (PNPOD) | Autosomal recessive | 610090 |
| Seizures, benign neonatal, type 2 | Autosomal dominant | 121201 |
| Severe Combined Immunodeficiency | Autosomal recessive | 601457 |
| Shwachman-Diamond syndrome | Autosomal recessive | 260400 |
| Skeletal Dysplasia | Autosomal dominant | 120140 |
| Spinal muscular atrophy Type I | Autosomal recessive | 253300 |
| Spinocerebella ataxia type 3 | Autosomal dominant | 109150 |
| Spinocerebellar ataxia 17 | Autosomal dominant | 607136 |
| Spinocerebellar ataxia I | Autosomal dominant | 164400 |
| Split-hand/foot malformation | Autosomal dominant | 246560 |
| Spondylocostal Dysostosis 1 | Autosomal recessive | 277300 |
| Spondyloepimetaphyseal dysplasia | Autosomal dominant | 616583 |
| Spondyloperipheral Dysplasia | Autosomal dominant | 271700 |
| Synpolydactyly | Autosomal dominant | 186000 |
| Tuberous Sclerosis | Autosomal dominant | 613254 |
| very long chain acyl-CoA dehydrogenase deficiency | Autosomal recessive | 201475 |
| von Hippel Lindau disease | Autosomal dominant | 193300 |
| Waardenburg Syndrome | Autosomal dominant | 193500 |
| Wiskott-Aldrich Syndrome | X-linked recessive | 301000 |
| X-linked dilated cardiomyopathy | X-linked | 302045 |
| X-linked Juvenile Retinoschisis | X-linked recessive | 312700 |