Table 3.

Previously undiagnosed cases with potential leads. Cases with hits with a GEM gene score BF > 1.5. Zygo zygosity, Hom homozygous, Het heterozygous, Dup large duplication

Case	Pedigree	Sex	Assay	Rank	Chr	Gene	Variant Type	Variant ACMG	De novo	Zygo	GEM score	Mode of inheritance	MIM ID(s)	CM score(s)
244799	Single	Male	WGS	1	14	SRP54	SNV	Uncertain significance	Likely	Het	1.76	Dominant	618752, 260400	0.672, 0.893
245237	Trio	Male	WGS	2	X	GK	SNV	VUS	Yes	Het	1.60	X-linked recessive	307030	1.119
245237	Trio	Male	WGS	3	16	FANCA	SNV	VUS	No	Hom	1.55	Recessive	227650	1.315
245768	Single	Male	WGS	1	16	TSC2	Dup	VUS	Likely	Het	1.64	Dominant	N/A	N/A
247458	Single	Male	WGS	1	1	SLC25A24	SNV	VUS	Likely	Het	1.86	Dominant	612289	1.995
247963	Trio	Female	WGS	1	X	STAG2	SNV	Likely pathogenic	Yes	Het	1.53	X-linked dominant	301022	1.25