MUTYH-associated polyposis (MAP) is a recessively inherited disorder, resulting in a high risk of colorectal adenomatous polyps and cancer, together with other manifestations.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder, resulting in characteristic gastrointestinal polyps and mucocutaneous pigmentation.
Phenylkentonuria (PKU) is an autosomal recessive condition that prevents the body from metabolising the amino acid phenylalanine to tyrosine, due to a deficiency in the enzyme phenylalanine hydroxylase.
Polymerase proofreading-associated (PPAP) is a dominantly inherited disorder, resulting in a high risk of colorectal cancer and increased risk of other cancers. It is caused by a variants of one of the two DNA polymerase proofreading genes: POLE and POLD1.
Retinoblastoma (RB) is an intraocular embryonal tumour, typically occurring during early childhood. It is the most common eye cancer in children, affecting approximately 1 in 20,000 individuals.
Sickle cell disease (SCD) is an autosomal recessive genetic condition that describes a group of haemoglobin disorders caused by genetic variants in the HBB gene, resulting in the production of sickle haemoglobin (HbS) rather than normal haemoglobin A (HbA).
Spinal muscular atrophy (SMA) is an autosomal recessive disorder, characterised by progressive muscle weakness due to the degeneration and loss of the anterior horn cells (the lower motor neurons) in the spinal cord and the brain stem nuclei. It affects around 1 in 25,000 individuals in the UK, with a carrier frequency of between 1 in 50 and 1 in 80.
Von Hippel-Lindau (VHL) disease is a rare, inherited disorder caused by genetic variants in the VHL gene, which causes cysts and tumours to develop in various organs from late childhood.
Von Willebrand disease (VWD) is the most common heritable bleeding disorder in humans, and is caused by a low or absent levels of von Willebrand factor (VWF), a clotting protein important for forming blood clots.