Genomics toolkit

Disease summaries

• Familial Hypercholesterolaemia: Nice Guidelines
• Hereditary Haemochromatosis
• Alpha-1-antitrypsin deficiency
• Hereditary Haemorrhagic Telangiectasia and Imperial College

• General resources from Health Education England on their Genomics Education Programme
• RCGP Genetic Haemochromatosis eLearning module
• RCGP Communicating Genomics
  • X-linked Dominant and Recessive
  • Pathogenic Variants
  • Autosomal Recessive Inheritance
  • Autosomal Dominant Inheritance