Symbol
| FANCP
|
Location
| 16p13.3
|
Name
|
Fanconi anemia subtype-P |
Corresponding gene
|
SLX4
|
Main clinical features
|
genome instability, congenital malformations, progressive bone marrow failure and predisposition to hematologic malignancies and solid tumors |
Genetic determination
| autosomal recessive |
Function/system disorder
| hematology |
Type
| disease
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
various types
|  
| abnormal protein/loss of function
| mutations may be hypomorphic (PMID: 21240277)
| |
Remark(s)
|
biallelic mutations in SLX4 (renamed here as FANCP) cause a new subtype of Fanconi anemia, Fanconi anemia-P. |