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GENATLAS PHENOTYPE |
last update : 03/10/2012 |
Symbol | ALGS2 |
Location | 1p11.2 |
HGNC id | 7882 |
Name | Alagille syndrome 2 |
Corresponding gene | NOTCH2 |
Other symbol(s) | AGS2 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Prevalence | < 1p100 of Alagille cases |
Function/system disorder | eye |
cardiovascular | |
digestive tract/liver and annex | |
Type | disease |
Gene product |
Name | notch 2 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| abnormal splicing
|  
| truncated protein
| protein is predicted to lack three of the seven ankyrin repeats and the ensuing 3 sequence
| missense
|  
| abnormal protein/loss of function
|  
| |
Remark(s) |
Genotype/Phenotype correlations |
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