Table 3.
Phenotypic categories reported in seven large genome-scale studies
| Study type | Exome (research study) | Exome (clinical laboratory) | Genome | ||||
|---|---|---|---|---|---|---|---|
| Study | Zhu et al. (136) | NCGENESa | Lee et al. (68) | Yang et al. (134) | Farwell et al. (39) | Retterer et al. (99) | Taylor et al. (120) |
| Nonsyndromic ID | Undiagnosed genetic disorders | ID and Autism | DD DD and autism |
Neurologic (?) | Neurologic | Autism Spectrum | # |
| Syndromic ID | Combination of: ID, dysmorphology, seizures, and other phenotypes | DD and hypotonia DD and epilepsy or seizures DD and dysmorphic features DD and heart disorder |
Neurologic and other organ systems | Multiple congenital anomalies | |||
| Neurologic | Neuromuscular disorders Ataxia Myopathy Leukodystrophy Seizures CNS |
Ataxia/neurologic disorders Muscular dystrophy |
Specific neurologic | Skeletal muscle Musculature Peripheral nervous Mitochondrial Seizures CNS |
Ohtahara syndrome Other early−onset epilepsies |
||
| Metabolic | NA | NA | Nonneurologic | Metabolic/ biochemical | Metabolism | # | |
| Sensory | NA | Hearing loss Retinal disorders |
Retinal disorders | Ophthalmologic Audio-logic/ otolaryngologic |
Hearing Vision | ||
| Cancer | Hereditary cancer | Cancer predisposition | Oncologic | Neoplasm | Multiple adenoma | ||
| Cardiovascular | Cardiomyopathy Arrhythmia Aortopathy |
Cardiomyopathy and arrhythmia | Cardiovascular | Cardiovascular | Hypertrophic Cardiomyopathy | ||
| Hematologic | Bleeding disorders | NA | Hematologic | Blood | # | ||
| Skeletal/Connective Tissue | Skeletal dysplasia Connective tissue |
Musculoskeletal/ structural Craniofacial |
Connective tissue Skeletal (?) Growth (?) |
Saethre−Chotzen syndrome (TWIST1 negative) | |||
| Immune | NA | Allergy/immunologic Infectious |
Immune system | Common variable immunodeficiency disorder | |||
| Genitourinary | Genitourinary | Genitourinary | # | ||||
| Dermatologic | Dermatologic | Skin | |||||
| Gastrointestinal | Gastrointestinal | Abdomen (?) | |||||
| Renal | Renal | Familial juvenile hyperuricaemic nephropathy | |||||
| Liver | NA | Hemachromatosis | |||||
| Pulmonary | Pulmonary | Respiratory System | # | ||||
| Endocrine | Endocrine | Endocrine | |||||
| Other | Other | Dental Obstetric |
NA | Systemic lupus erythematosus # |
|||
Only phenotypic categories that comprised more than five individuals are included. Abbreviations: CNS, central nervous system; DD, developmental delay; ID, intellectual disability; NA, not applicable; NCGENES, North Carolina Clinical Genomic Evaluation by Next-Generation Exome Sequencing. “(?)” indicates a lack in clarity regarding exactly which diseases are included in a particular described phenotype, and reflects our best guess as to what the category included. “#” indicates that phenotypes in particular categories were reported in the study but did not include more than five individuals.
J.S. Berg, N.T. Strande, G. Haskell, B. Powell, A.K.M. Foreman, et al. manuscript in preparation.