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GENATLAS PHENOTYPE |
last update : 1/09/2006 |
Symbol | PHS |
Location | 7p14.1 |
Name | Pallister-Hall syndrome 1 |
Corresponding gene | GLI3 |
Other symbol(s) | PHS1 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Related entries | . including the PIV (polydactyly, imperforate anus and vertebral malformation) |
Function/system disorder | congenital malformation |
Type | malformation |
Gene product |
Name | zinc-finger transcription factor |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| frameshift
|  
| truncated protein
| mutations in the middle third of the gene
| deletion
|  
|  
| 3386_3387 delTT associated with skeletal anomalies
| |
Remark(s) | allelic disorder to Greig cephalopolysyndactyly syndrome |