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GENATLAS PHENOTYPE |
last update : 10/07/2006 |
Symbol | HPE4 |
Location | 18p11.31 |
HGNC id | 5152 |
Name | holoprosencephaly 4 |
Corresponding gene | TGIF1 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | congenital malformation |
neurology | |
Type | disease |
Gene product |
Name | TG-interacting factor (TGIF) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
|  
| deletion
| haploinsufficiency
| complete or partial deletion of chr18 short arm
|  
| deletion
| haploinsufficiency
| cryptic subtelomeric microdeletion of 18p
| various types
|  
| haploinsufficiency
|  
| |
Remark(s) |