Table 1

Summary of patient phenotypes and characteristics (specific selection criteria are in bold)

Sample IDAge at diagnosis (years)SexDiseasePhenotype description and selection criteriaEthnicityFamily history
Proband 111MaleCD Severe disease requiring surgery/ Stricturing ileo-colonic disease requiring right hemicolectomy within 6 months of diagnosis.White British
Proband 27FemaleCD Early age of onset/non-stricturing, non-penetrating mild to moderate pancolitis, disease resistant to treatment.White British
Proband 36MaleCD Early age of onset/non-stricturing, non-penetrating granulomatous colitis and duodenitis. Mother diagnosed CD aged 21 years.White British+
Proband 46FemaleCD Early age of onset/non-penetrating pancolitis with possible ileo-caecal stricture.White British
Proband 513MaleCDNon-stricturing, non-penetrating, colitis. Family history including maternal CD and maternal grandparental UC.White British+
Proband 69MaleUC Severe left sided colitis, also with oral pemphigus.White British
Proband 72MaleUC Early age of onset/mild to moderate pancolitis.White British
Proband 83.5MaleIBDU Early age of onset/left sided colitis.Iraqi
  • CD, Crohn's disease; IBDU, inflammatory bowel disease unclassified; UC, ulcerative colitis.