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

BMC Medical Genomics

Table 2 Four real patients analyzed by PhenoVar

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
	Micrognathia
B	Cutis laxa	NBAS	c.5741G > A(p.Arg1914His)/c.682insT (p.Cys228Fs)	Short stature, optic nerve atrophy, and Pelger-Huet anomaly (614800)	2
	Hydrocephalus
	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
	Microcephaly
	Seizures

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.

ISSN: 1755-8794