TY - JOUR T1 - Catalogue of inherited disorders found among the Irish Traveller population JF - Journal of Medical Genetics JO - J Med Genet DO - 10.1136/jmedgenet-2017-104974 SP - jmedgenet-2017-104974 AU - Sally Ann Lynch AU - Ellen Crushell AU - Deborah M Lambert AU - Niall Byrne AU - Kathleen Gorman AU - Mary D King AU - Andrew Green AU - Siobhan O’Sullivan AU - Fiona Browne AU - Joanne Hughes AU - Ina Knerr AU - Ahmad A Monavari AU - Melanie Cotter AU - Vivienne P M McConnell AU - Bronwyn Kerr AU - Simon A Jones AU - Catriona Keenan AU - Nuala Murphy AU - Declan Cody AU - Sean Ennis AU - Jackie Turner AU - Alan D Irvine AU - Jillian Casey Y1 - 2018/01/20 UR - http://jmg.bmj.com/content/early/2018/01/21/jmedgenet-2017-104974.abstract N2 - Background Irish Travellers are an endogamous, nomadic, ethnic minority population mostly resident on the island of Ireland with smaller populations in Europe and the USA. High levels of consanguinity result in many rare autosomal recessive disorders. Due to founder effects and endogamy, most recessive disorders are caused by specific homozygous mutations unique to this population. Key clinicians and scientists with experience in managing rare disorders seen in this population have developed a de facto advisory service on differential diagnoses to consider when faced with specific clinical scenarios.Objective(s) To catalogue all known inherited disorders found in the Irish Traveller population.Methods We performed detailed literature and database searches to identify relevant publications and the disease mutations of known genetic disorders found in Irish Travellers.Results We identified 104 genetic disorders: 90 inherited in an autosomal recessive manner; 13 autosomal dominant and one a recurring chromosomal duplication.Conclusion We have collated our experience of inherited disorders found in the Irish Traveller population to make it publically available through this publication to facilitate a targeted genetic approach to diagnostics in this ethnic group. ER -