Table 2.

Pathogenic or likely pathogenic variants identified in TCF4 during targeted sequencing (TES), whole exome sequencing (WES) or whole genome sequencing (WGS) in patients with intellectual disability (ID)

Cohort	Reference	Approach	Number of patients	TCF4 mutations
ID (mild to severe)	this study	TES (275–456 genes)	903	8
ID (mild to severe)	Redin et al. [1]	TES (217 genes)	106	2
ID (moderate to severe)	Grozeva et al. [12]	TES (575 genes)	986	2
ID	Tan et al. [15]	TES (90 genes)	52	2
ID (severe)	Rauch et al. [14]	WES	51	(1*)
ID (moderate to severe)	de Ligt et al. [11]	WES	100	1
ID (moderate to severe)	Hamdan et al. [13]	WES	41	1
Total			2239	16 (0.7%)

* de novo missense variant predicted to be benign, not included in the statistics