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GENATLAS PHENOTYPE
last update : 23-03-2011
Symbol TCSPD
Location 13q12.2
Name Treacher Collins syndrome, POLR1D related
Corresponding gene POLR1D
Main clinical features
  • bilateral downward slanting of the palpebral fissures, colobomas of the lower eyelids with a paucity of eyelashes medial to the defect, hypoplasia of the facial bones, cleft palate, malformation of the external ears, atresia of the external auditory canals, and bilateral conductive hearing loss PMID: 21131976
    • Genetic determination autosomal dominant
    Function/system disorder eye
    Type malformation
    Gene product
    Name encoding a subunit of RNA polymerases I and III, supporting the hypothesis that TCS is a ribosomopathy.
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   haploinsufficiency in 20/250 TCS patients
    nonsense   haploinsufficiency  
    Remark(s) the majority of individuals with TCS are heterozygous for a mutation in TCOF1