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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 |
|
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 mutation | Chromosome rearrangement | Effect | Comments |
| deletion
|  
| haploinsufficiency
| in 20/250 TCS patients
| nonsense
|  
| haploinsufficiency
|  
| |
Remark(s) | the majority of individuals with TCS are heterozygous for a mutation in TCOF1 |