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Table 2 Four real patients analyzed by PhenoVar

From: PhenoVar: a phenotype-driven approach in clinical genomics for the diagnosis of polymalformative syndromes

Patient ID Phenotype search traits (Patient reference) Gene Mutation Correct diagnosis (OMIM) PhenoVar ranking
A Cleft palate SATB2 c.1165C > T (p.Arg389Cys) Cleft palate, isolated; cleft palate and mental retardation (119540) 1
Congenital myopia
Global developmental delay
B Cutis laxa NBAS c.5741G > A(p.Arg1914His)/c.682insT (p.Cys228Fs) Short stature, optic nerve atrophy, and Pelger-Huet anomaly (614800) 2
Intellectual disability
Optic atrophy
C Abnormality of dental enamel JUP c.902A > G (p.Glu301Gly)/c.902A > G (p.Glu301Gly) Naxos disease (601214) 3
Generalized ichthyosis
Palmar hyperkeratosis
Plantar hyperkeratosis
Woolly hair
D Congenital cataract COL4A1 c.3149G > A (p.Gly1050Glu) Porencephaly, Familial (175780) 7
Intellectual disability
  1. Table 2 summarizes four examples illustrating that Phenovar can be used with real patients data. The first column lists the identification letter assigned to each patient. The phenotypic traits used when running PhenoVar are listed in the second column. The next three columns denote the affected gene, exact mutation, and corresponding diagnosis (as determined after standard analysis of all the data, i.e. without using PhenoVar) for each patient. Finally, the last column indicates the ranking assigned by PhenoVar to the correct diagnosis.