Table 1. Details of the clinical diagnoses and genetic pathology identified in individuals in this study.

Individual ID	DECIPHER ID	Clinical feature	Genetic pathology	Genomic coordinates (hg18)
1851 (control)	323119	Aniridia	PAX6 deletion (previously identified by FISH)	chr11:21,254,000–32,564,000
2193	323118	Aniridia	PAX6 whole-gene deletion	chr11:31,199,000–31,849,000
377	323104	Aniridia	PAX6 whole-gene deletion	chr11:31,394,000–31,914,000
1510	323113	Aniridia	PAX6 whole-gene deletion	chr11:31,779,000–31,933,000)
1977	323116	Aniridia	PAX6 whole-gene deletion	chr11:31,698,271–31,794,414
1514	323114	Aniridia	PAX6 telomeric deletion	chr11:30,874,642–31,654,833
753	323108	Aniridia	PAX6 telomeric deletion	chr11:30,967,000–31,704,000)
555	323106	Aniridia	PAX6 telomeric deletion	chr11:31,108,579–31,649,842)
2014	323117	Gillespie syndrome	PAX6 telomeric deletion	chr11:31,234,395–31,751,815
659	323107	Aniridia	PAX6 telomeric deletion	chr11:31,379,000–31,708,000)
1449	323112	Gillespie syndrome	FOXC1 whole-gene deletion	chr6:1,543,591–1,675,085
1246	323110	Aniridia	FOXC1 whole-gene deletion	chr6:1,543,591–1,675,085
1839		Aniridia	FOXC1 c.235C>A p.(Pro79Thr) de novo	Not applicable
1634		Aniridia	FOXC1 c.302T>C p.(Leu101Pro) de novo	Not applicable
1194	323109	Aniridia	PITX2 telomeric deletion	chr4:111,994,000–115,504,000
1371	n/a	Gillespie syndrome	Translocation t(X;11)(p22.32;p12)	See Fig 5