Table 1

Summary of diagnoses made in the RaPS cohort

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