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).