Bilateral microtia
Gene: SF3B4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#154400:Acrofacial dysostosis 1, Nager type [Short stature; Microcephaly; Micrognathia; Midface retrusion; Retrognathia; Conductive deafness; Low-set ears; Posteriorly rotated ears; Preauricular tags; External auditory canal atresia; Downslanting palpebral fissures; Partial-total absence of lower eyelashes; Lower lid coloboma; High nasal bridge; Cleft palate; Cleft lip; Macrostomia; Trismus; Velopharyngeal insufficiency; Tetralogy of Fallot (in some patients); Ventricular septal defect (in some patients); Patent ductus arteriosus (in some patients); Laryngeal hypoplasia; Hypoplasia of the epiglottis; Hypoplastic first rib; Gastroschisis; Hirschsprung disease; Bicornuate uterus; Unilateral renal agenesis; Duplicated calyx; Hypoplastic zygomatic arch; Hypoplastic mandible; Scoliosis; Cervical vertebral abnormalities; Hip dislocation; Radioulnar synostosis; Limitation of elbow extension; Short forearms; Radial aplasia; Radial hypoplasia; Thumb aplasia/hypoplasia; Syndactyly; Clinodactyly; Triphalangeal thumbs; Missing toes; Hypoplastic toes; Toe syndactyly; Overlapping toes; Hallux valgus; Broad hallux; Clubfeet; Urticaria pigmentosa; Partial to total absence of eyelashes; Normal intelligence; Hydrocephalus; Aqueductal stenosis; Polymicrogyria; Speech delay; Premature birth]
Publications
This gene has been classified as Green List (High Evidence).
Phenotypes for SF3B4 were set to Bilateral Microtia; 154400
Publications for SF3B4 were set to 22541558; 23568615
Mode of inheritance for SF3B4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
SF3B4 was added to Bilateral Microtiapanel. Sources: Expert list