Table 2.

Genes identified by the PAGE clinical review panel that had diagnostic variants without previous prenatal phenotype descriptions

	Postnatal fetal phenotypes	References	Number of postnatal cases in cited references	Prenatal ultrasound scan findings (PAGE identifier)
ANKRD11	KBG syndrome, Coffin-Siris-like syndrome, intellectual disability, macrodontia, facial dysmorphisms, skeletal anomalies, short stature, hearing loss, and recurrent middle palatal abnormalities	19, 20, 21	89	Atrioventricular canal defect (PP1750)
ARCN1	Severe micrognathia, microcephaly, short stature with rhizomelic shortening, joint laxity, and mild developmental delay and, in some cases, cardiac defects, and cleft palate (each in one case)	22	4	Absent or hypoplastic radius, ulnar hypoplasia, fibular hypoplasia, and short tibia, femur, and humerus (PP2009)
CCDC103	Primary ciliary dyskinesia (including upper and lower airway infections, sinusitis, bronchiectasis, dextrocardia or situs inversus, atrioventricular septal defects, and immotile sperm)	23, 24, 25, 26	14	Complex univentricular heart, double outlet right ventricle, transposition great arteries, pulmonary stenosis, and likely right atrial isomerism (PP0390)
COQ9	Neonatal encephalopathy with lactic acidosis, seizures, global developmental delay, hypertrophic cardiomyopathy, and renal tubular dysfunction	27, 28	2	Dilated loops of bowel, cardiomegaly, pericardial effusion, fetal growth restriction, anhydramnios (PP1795)
MYCN	Feingold syndrome (including oesophogeal and duodenal atresias, microcephaly, learning disabilities, and digital anomalies such as brachymesophalang or syndactyly), cardiac defects, and renal anomalies	29	77	Duodenal atresia (PP0258)
NR2F2	Atrioventricular septal defects, atrial septal defects, hypoplastic left heart syndrome, coarctation of the aorta, tetralogy of Fallot, and congenital diaphragmatic hernia	30, 31	11	Abnormal four-chamber view of the heart (PP0184)
TAB2	Frontometaphyseal dysplasia, hypertelorism, wide nasal bridge, micrognathia, hearing loss, congenital heart defects (variable), scoliosis, and upper limb contractures	32, 33, 34, 35	15	Increased nuchal translucency of 8·0 mm (PP1726)
TUBB	Microcephaly, structural brain anomalies (including dysmorphic basal ganglia, abnormalities of the corpus callosum, and brainstem hypoplasia), learning disability, circumferential skin creases, cleft palate, and short stature	36, 37	6	Dysgenesis of the corpus callosum and lissencephaly (PP1579)
ZC4H2	Arthrogryposis multiplex congenita, kyphosis or scoliosis, and severe learning disabilities	38	5	Fixed extended knees, rocker bottom feet, and a flat forehead (PP204)

PAGE=Prenatal Assessment of Genomes and Exomes.