Information about genetic conditions

Health professionals may need information about the clinical characteristics, inheritance and management of genetic conditions. These are organisations who aim to provide such information.

Patients' organisations also provide information on specific conditions - on our Public, patients, families page we have listed some umbrella organisations.

The following links are from reputable sources, but BSGM has not been able to review all the contents of these sites.  There are other excellent sources of information and support available on the Internet, but please remember that not all information offered online is accurate or up-to-date.


Fact sheets from Health Education England

Genetics conditions fact sheets on 19 inherited conditions -the key facts, clinical features,  diagnosis, management and treatment which can be downloaded as a pdf.

Information about rare conditions

Orphanet, supported by the European Commission, provides high-quality information on rare diseases, through a consortium of 40 countries.  It maintains an inventory of rare diseases and orphan drugs, expert clinical and laboratory resources, guidelines for emergency medical care and anaesthesia, and a diagnostic tool allowing searching by signs and symptoms.    

Comprehensive reviews of inherited conditions

GeneReviews is an international point-of-care resource for clinicians providing clinically relevant and medically actionable information for inherited conditions covering diagnosis, management, and genetic counselling information. The reviews are written by experts, peer reviewed and updated regularly.

Catalogue of human genes

OMIM  Online Mendelian Inheritance in Man is a comprehensive  online catalogue of human genes and genetic phenotypes


Availability of gene tests

The United Kingdom Genetic Testing Network website has a list of gene tests available through NHS laboratories. It has not been updated since April 2018, but it may still prove a good place to start if you are looking to find out where a test for a particular condition might be available in the UK.  

EDDNAL is a European Directory of DNA Diagnostic Laboratories listing laboratories who provide testing for rare genetic conditions in Europe.