Deafness and congenital structural abnormalities
Gene: SF3B4Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:45 p.m.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:45 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Five variants reported.Created: 8 Sep 2016, 9:41 a.m.
Comment on list classification: Expert reviewCreated: 8 Sep 2016, 9:39 a.m.
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
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
Publications for SF3B4 were set to 22541558; 23568615; 7958871;24003905
SF3B4 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing
SF3B4 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen SF3B4 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services
SF3B4 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
SF3B4 was created by sleigh