Deafness and congenital structural abnormalities
Gene: TCOF1EnsemblGeneIds (GRCh38): ENSG00000070814
EnsemblGeneIds (GRCh37): ENSG00000070814
OMIM: 606847, Gene2Phenotype
TCOF1 is in 9 panels
4 reviews
Sarah Leigh (Genomics England Curator)
Comment 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.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:47 p.m.
Jun Shen (Harvard Medical School)
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
Maria Bitner-Glindzicz (UCL)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Bilateral Microtia
- 154500
- Familial hemifacial microsomia with bilateral microtia
- Treacher Collins syndrome 1, 154500
- Treacher Collins syndrome which can be highly variable
- OMIM
- 606847
- Clinvar variants
- Variants in TCOF1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)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
Added New Source
Sarah Leigh (Genomics England Curator)TCOF1 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing
Added New Source
Sarah Leigh (Genomics England Curator)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
Added New Source
Sarah Leigh (Genomics England Curator)TCOF1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)TCOF1 was created by sleigh