Table 2.

Phenotype based genetic characterisation of VEO-IBD patients.

	Small bowel inflammation	Colitis + perianal	Colitis only
Number of patients	51	33	123
% of boys	78%	72%	58%
Number of diagnosed patients	31	13	22
% of molecular diagnoses	61%	39%	18%
% of diagnoses done by
Functional tests	55%	92%	14%
WES	19.5%	0%	18%
TNGS	26%	8%	68%
	FOXP3 [19]	IL10RA [3]	EPCAM [1]
	IL2RA [2]	IL10RB [7]	ICOS [1]
	LRBA [5]	XIAP [3]	MYO5B [2]
	MALT1 [2]		NCF1 [2]
	MYO5B [1]		NLRC4 [1]
	NEUROG3 [1]		SI [1]
	STAT3 [1]		SKIV2L [3]
			STAT1 [1]
			TTC37 [1]
			TTC7A [2]
			XIAP [7]

List of genes and number of patients for each gene in brackets.

WES, whole exome sequencing; TNGS, targeted next-generation sequencing.