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Hearing loss

Gene: TCOF1

Red List (low evidence)

TCOF1 (treacle ribosome biogenesis factor 1)
EnsemblGeneIds (GRCh38): ENSG00000070814
EnsemblGeneIds (GRCh37): ENSG00000070814
OMIM: 606847, Gene2Phenotype
TCOF1 is in 10 panels

1 review

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 auricleConductive hearing lossEar tagsBlind fistulas; Downward slanting palpebral fissuresLower eyelid colobomaPartial absence of lower eyelashes; Cleft palatePalatopharyngeal incompetenceMandibular hypoplasiaMacrostomia; Caused by mutations in Treacle gene (TCOF1,)]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TCOF1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert