Deafness and congenital structural abnormalities
Gene: TCOF1Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. At least eleven variants reported.Created: 14 Sep 2016, 8:57 a.m.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:47 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#154500:Treacher Collins syndrome 1 [Malar hypoplasia; Malformation of auricle; Conductive hearing loss; Ear tags; Blind fistulas; Downward slanting palpebral fissures; Lower eyelid coloboma; Partial absence of lower eyelashes; Cleft palate; Palatopharyngeal incompetence; Mandibular hypoplasia; Macrostomia]
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Treacher Collins syndrome which can be highly variable
Variants in this GENE are reported as part of current diagnostic practice
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 TCOF1 were set to 9096354;10545604; 11013442; 1110452; 11471057; 11734546; 12114482; 12210332; 14598341; 15019983; 15039977; 15214011; 15249688; 15930015; 16465596; 16938878; 19050407; 20106873; 22317976; 24108658; 26399832; 4061487; 8563749; 8875242; 8894686; 9042910; 9096354; 9158147; 9736782
TCOF1 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing
TCOF1 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN TCOF1 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen TCOF1 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services
TCOF1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
TCOF1 was created by sleigh