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GENATLAS PHENOTYPE
last update : 25-10-2016
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
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
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.