New conditions factsheets

These handy factsheets are perfect for clinicians as an introduction to or a refresher on a range of genetic conditions

The Genomics Education Programme has updated and expanded its library of genetic conditions factsheets.

The factsheets have been created for primary care health professionals and clinicians who are looking to learn more about a particular genetic condition, or to refresh their existing knowledge.

Key facts

Each factsheet outlines the key facts of each condition, in addition to information on clinical features, diagnosis, genetic basis and testing, management and treatment.

• Adrenoleukodystrophy
• Alpha-thalassaemia
• Beta-thalassaemia
• Classical homocystinuria
• Congenital adrenal hyperplasia 21
• Congenital hypothyroidism
• Cystic fibrosis
• Duchenne muscular dystrophy
• Familial adenomatous polyposis
• Familial hypercholesterolaemia
• Familial medullary thyroid cancer
• Familial paraganglioma syndromes
• Glutaric aciduria type I
• Haemophilia A and B
• Hereditary breast and ovarian cancer
• Isovaleric acidaemia
• Juvenile polyposis syndrome
• Long QT syndrome
• Lynch syndrome
• Maple syrup urine disease
• Marfan syndrome
• Maturity onset diabetes of the young
• Medium-chain acyl-CoA dehydrogenase deficiency
• Multiple endocrine neoplasia type 1
• Multiple endocrine neoplasia type 2A
• MUTYH-associated polyposis
• Peutz-Jeghers syndrome
• Phenylketonuria
• Polymerase proofreading-associated polyposis
• Retinoblastoma
• Sickle cell disease
• Spinal muscular atrophy
• Von Hippel-Lindau disease
• Von Willebrand disease

Browse, download or print the full condition factsheet collection and other resources on our education page.