Table 1

Results of WGS at the MCW Genomics Medicine Clinic for 23 Pediatric (CHW) and 2 Adult (FH) Cases.

Pediatric case #	Clinical indication	Variants	Diagnosis
1	T cell immune deficiency	4 pathogenic, 1 VUS	No
2	Multiple congenital anomalies, lactic acidosis, leukodystrophy and seizure disorder	3 pathogenic, 11 VUS	Maybe
3	Immune deficiency	1 pathogenic, 1 VUS	No
4	Leukodystrophy	3 pathogenic, 4 VUS	Maybe
5	Intrauterine growth retardation, hair abnormalities, vomiting, chronic diarrhea, developmental delay, facial dysmorphism	2 pathogenic, 5 VUS	Yes
6	Recurrent stroke, polymositis, chronic inflammation, recurrent unexplained fever	5 pathogenic, 5 VUS	No
7	Infantile spasms, dystonia, sensorineural hearing loss, optic nerve abnormalities	5 pathogenic, 10 VUS	No
8	Ataxia, seizures, regression	1 pathogenic, 4 VUS	No
9	Malignant nerve sheath tumor, plexiform neurofibroma	1 VUS	No
10	Dilated cardiomyopathy with recurrent hypoglycemic events	2 VUS	Maybe
11	Atypical hemolytic uremic syndrome	1 VUS	No
12	Dystonia, chorea, mental retardation, retinal and neurotransmitter abnormalities	2 pathogenic, 14 VUS	Maybe
13	Recurrent rhabdomyolysis	1 pathogenic, 6 VUS	Yes
14	Long QT syndrome, arrhythmia, neurogenic myopathy	2 pathogenic, 5 VUS	Yes
15	Seizures with combined white and grey matter degeneration	3 pathogenic, 1 VUS	No
16	Methyl malonic acidemia and spherocytosis	1 pathogenic	Yes
17	Congenital myofibromatosis	1 pathogenic, 5 VUS	No
18	Poor growth, vomiting, mental retardation, facial dysmorphism, seizure disorder	2 pathogenic, 2 VUS	Yes
19	Connective tissue disorder, aortic root dilatation, short stature, developmental delay, hypermobility	analysis in process	N/A
20	Neurological condition (microcephaly, epilepsy, mental retardation, autism) and endocrine syndrome (primary ovarian failure)	4 pathogenic, 1 VUS	Maybe
21	Neurological condition (microcephaly, epilepsy, mental retardation, autism) and endocrine syndrome (primary ovarian failure)	9 pathogenic, 2 VUS	Maybe
22	Metabolic condition, liver and renal failure, bilateral cataracts, short stature	3 pathogenic, 2 VUS	Maybe
23	Neurological condition, neurodegeneration	analysis in process	N/A
Adult case #
24	Hypertension of unclear etiology (Executive Medicine Program)	2 pathogenic, 3 VUS	Yes
25	Colon cancer, secondary finding of Marfan syndrome	1 pathogenic, 8 VUS	Yes for Marfan syndrome; Maybe for cancer

The first column lists the order in which patient samples were sent to Illumina for whole-genome sequencing (WGS). Nic Volker is not listed because his diagnosis was made using whole-exome sequencing. Clinical indication denotes the broad category of disease the patient initially presented with. The ACMG guidelines were used to classify variants as either pathogenic or variant of uncertain significance (VUS). N/A, not analyzed. Children’s Hospital of Wisconsin (CHW), Froedtert Hospital (FH), Medical College of Wisconsin (MCW).