Table 1.

Summary of diagnoses made in the RaPS cohort

RaPS ID	Gene	MIM	Phenotype	Inheritance
Diagnosis made through RaPS
RaPS_01	POLE1	174 762	Facial dysmorphism, immunodeficiency, livedo, short stature (FILS) syndrome	Compound heterozygote
RaPS_02	COL3A1	120 180	Ehlers-Danlos syndrome, type IV	De novo
RaPS_05	CHD7	608 892	CHARGE syndrome	De novo
RaPS_07	PIGT	615 398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	Homozygous
RaPS_11	WT1	607 102	WT1-related nephropathy	De novo
RaPS_12	GLDC	238 300	Glycine encephalopathy	Homozygous
RaPS_15	RRM2B	604 712	Mitochondrial DNA depletion syndrome	Compound heterozygote
RaPS_16	NSD1	606 681	Sotos syndrome	De novo
RaPS_21	TBCE	604 934	Hypoparathyroidism-retardation-dysmorphism syndrome	Homozygous
RaPS_24	CC2D2A	612 013	Joubert syndrome 9	Compound heterozygote
Secondary findings
RaPS_18	BCHE	177 400	Butyrylcholinesterase deficiency	Homozygous
Diagnosis made outside of RaPS
RaPS_04	EIF4A3	268 850	Richieri-Costa-Pereira syndrome	Homozygous
RaPS_08	IL2RG	308 380	Severe combined immunodeficiency, X-Linked	X-Linked Recessive

Ten diagnoses were made as a result of WGS through RaPS, all of which explain the primary clinical findings. In one case (RaPS_18), a secondary finding of homozygous BCHE mutations was identified and fed back to the referring team as it was deemed clinically relevant. Two molecular diagnoses were found outside of RaPS; a patient with a known mutation in IL2RG (RaPS_08) was recruited to RaPS to investigate dual pathology. The IL2RG mutation was confirmed, but no second molecular diagnosis was made. In RaPS_04, a homozygous 5′UTR expansion not detected by WGS was identified in EIF4A3 by a different group.