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
1T cell immune deficiency4 pathogenic, 1 VUSNo
2Multiple congenital anomalies, lactic acidosis, leukodystrophy and seizure disorder3 pathogenic, 11 VUSMaybe
3Immune deficiency1 pathogenic, 1 VUSNo
4Leukodystrophy3 pathogenic, 4 VUSMaybe
5Intrauterine growth retardation, hair abnormalities, vomiting, chronic diarrhea, developmental delay, facial dysmorphism2 pathogenic, 5 VUSYes
6Recurrent stroke, polymositis, chronic inflammation, recurrent unexplained fever5 pathogenic, 5 VUSNo
7Infantile spasms, dystonia, sensorineural hearing loss, optic nerve abnormalities5 pathogenic, 10 VUSNo
8Ataxia, seizures, regression1 pathogenic, 4 VUSNo
9Malignant nerve sheath tumor, plexiform neurofibroma1 VUSNo
10Dilated cardiomyopathy with recurrent hypoglycemic events2 VUSMaybe
11Atypical hemolytic uremic syndrome1 VUSNo
12Dystonia, chorea, mental retardation, retinal and neurotransmitter abnormalities2 pathogenic, 14 VUSMaybe
13Recurrent rhabdomyolysis1 pathogenic, 6 VUSYes
14Long QT syndrome, arrhythmia, neurogenic myopathy2 pathogenic, 5 VUSYes
15Seizures with combined white and grey matter degeneration3 pathogenic, 1 VUSNo
16Methyl malonic acidemia and spherocytosis1 pathogenicYes
17Congenital myofibromatosis1 pathogenic, 5 VUSNo
18Poor growth, vomiting, mental retardation, facial dysmorphism, seizure disorder2 pathogenic, 2 VUSYes
19Connective tissue disorder, aortic root dilatation, short stature, developmental delay, hypermobilityanalysis in processN/A
20Neurological condition (microcephaly, epilepsy, mental retardation, autism) and endocrine syndrome (primary ovarian failure)4 pathogenic, 1 VUSMaybe
21Neurological condition (microcephaly, epilepsy, mental retardation, autism) and endocrine syndrome (primary ovarian failure)9 pathogenic, 2 VUSMaybe
22Metabolic condition, liver and renal failure, bilateral cataracts, short stature3 pathogenic, 2 VUSMaybe
23Neurological condition, neurodegenerationanalysis in processN/A
Adult case #
24Hypertension of unclear etiology (Executive Medicine Program)2 pathogenic, 3 VUSYes
25Colon cancer, secondary finding of Marfan syndrome1 pathogenic, 8 VUSYes 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).