Bilateral microtia
Gene: TCOF1EnsemblGeneIds (GRCh38): ENSG00000070814
EnsemblGeneIds (GRCh37): ENSG00000070814
OMIM: 606847, Gene2Phenotype
TCOF1 is in 9 panels
2 reviews
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
- Expert list
- Phenotypes
-
- Bilateral Microtia
- 154500
- OMIM
- 606847
- Clinvar variants
- Variants in TCOF1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for TCOF1 were set to Bilateral Microtia; 154500
Set publications
Richard Scott (Genomics England Curator)Publications for TCOF1 were set to 9096354
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for TCOF1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TCOF1 was added to Bilateral Microtiapanel. Sources: Expert list