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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 18/06/2008 |
Symbol | HDL2 |
Location | 16q24.3 |
Name | Huntington disease -like 2 |
Corresponding gene | JPH3 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | neurology |
hematology | |
Type | disease |
Gene product |
Name | junctophilin 3 |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| repeat expansion
|  
| unknown
| CTG/CAG repeat expansion of 41-58 triplets, non coding
| |
Remark(s) |
|
Genotype/Phenotype correlations | no apparent correlation between the phenotype, the size of the triplet expansion and the presence of acanthocytosis |