Monogenic diseases

Information on PGT-M

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