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Table 1 Characteristics of the test patients selected from the literature

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

Patient identification Phenotype search traits (Patient reference) Gene Mutation Correct diagnosis (OMIM)
1a Holoprosencephaly SIX3 c.977G > C p. Arg257Pro Holoprosencephaly-2 (157170)
Iris coloboma
(Wallis et al.) [21]
2a Preaxial polydactyly NEK1 c.379C > T p.Arg127Ter Short rib-polydactyly syndrome, type II (263520)
Median cleft lip and palate
Short ribs
(Thiel et al.) [22]
3a Cutaneous finger syndactyly SLC26A2 c.1984 T > A p.Cys653Ser Epiphyseal dysplasia, multiple, 4 (226900)
Patellar dislocation
(Makitie et al.) [23]
4a Polymicrogyria GPR56 c.1036 T > A p. Cys346Ser Polymicrogyria, bilateral frontoparietal (606854)
(Piao et al.) [24]
5a Synophrys RAD21 c.1127C > G p.Pro376Arg Cornelia de Lange syndrome 4 (614701)
Tetralogy of Fallot
(Deardorff et al.) [25]
6a Micromelia COL2A1 c.4172A > G p.Tyr1391Cys Platyspondylic lethal skeletal dysplasia, Torrance type (151210)
Radial bowing
Pulmonary hypoplasia
(Nishimura et al.) [26]
7a Generalized myoclonic seizures EHMT1 c.3409C > T p. Arg1137Ter Kleefstra syndrome/Chromosome 9q34.3 deletion syndrome (610253)
Global developmental delay
Short stature
(Kleefstra et al.) [27]
8a Anophthalmia STRA6 c.878C > T p.Pro293Leu Microphthalmia, syndromic 9 (601186)
Pulmonic stenosis
(Pasutto et al.) [28]
9a Oligohydramnios RBM10 c.1235G > A p. Trp412Ter TARP syndrome (311900)
Cleft palate
Defect in the atrial septum
(Johnston et al.) [29]
10a Hyperventilation TCF4 c.1727G > A p.Arg576Gln Pitt-Hopkins syndrome (610954)
Postnatal microcephaly
(Amiel et al.) [30]
1b Limb shortening WNT7A c.1179C > T p.Arg292Cys Ulna and fibula absence of with severe limb deficiency (276820 )
Aplasia/hypoplasia of the fibula
Aplasia/hypoplasia of the ulna
(Woods et al.) [31]
2b Synostosis of carpals/tarsals NOG c.104C > G p.Pro35Arg Tarsal-carpal coalition syndrome (186570)
Proximal symphalangism
Radial head subluxation
(Dixon et al.) [32]
3b Adrenal hypoplasia WNT4 c.341C > T p.Ala114Val Serkal syndrome or sex reversal, female, with dysgenesis of kidneys, adrenals, and lungs (611812)
Intrauterine growth retardation
Renal agenesis
(Mandel et al.) [33]
4b Anal atresia GLI3 c.2188_2207del Pallister-Hall syndrome (146510)
Central polydactyly (hands)
Short thumb
(Killoran et al.) [34]
5b Global developmental delay SC5DL c.86G > A p.Arg29Gln Lathosterolosis (607330)
Postaxial polydactyly of foot
Toe syndactyly
(Brunetti-Pierri et al.) [35]
6b Central polydactyly (feet) RAB23 c.434 T > A p.Leu145Ter Carpenter syndrome (201000)
Finger syndactyly
(Jenkins et al.) [36]
7b Cleft palate DHCR24 c.571G > A p.Glu191Lys Desmosterolosis (602398)
Short stature
Aplasia cutis congenita
(Waterham et al.) [37]
8b Generalized hypotonia NSD1 c.1310C > G p.Ser437Ter Sotos syndrome (117550)
(Kurotaki et al.) [38]
9b Holoprosencephaly DHCR7 c.832-1G > C Smith-Lemli-Opitz syndrome (270400)
Median cleft lip and palate
(Wright et al.) [39]
10b Short stature IHH c.137C > T p.Pro46Leu Acrocapitofemoral dysplasia (607778)
Limb shortening
Cone-shaped epiphysis
(Hellemans et al.) [40]
  1. Table 1 summarizes the characteristics of the test-patients selected from the literature. The first column lists the identification number assigned to each patient. The phenotypic traits selected by the medical geneticist “blinded” to the diagnoses and the reference articles are listed in the second column. The affected gene, exact mutation, and corresponding diagnosis for each test-patient are also included in this table.