Bleeding and Platelet Disorders

Gene: F11

Green List (high evidence)

Recessive cases are more severe than heterozygous carriers, who may be asymptomatic despite having FXI deficiency (PMID:18446632). Dominant negative missense tend to have dominant inheritance patterns (PMID:15026311), while PTCs are generally recessive, though symptomatic carriers have been reported (OMIM).

Created: 17 Apr 2020, 8:14 a.m. | Last Modified: 17 Apr 2020, 8:14 a.m.

Panel Version: 0.16

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive, MIM#612416

Publications

• 18446632
• 15026311

Green List (high evidence)

Recessive cases are more severe than heterozygous carriers, who may be asymptomatic despite having FXI deficiency (PMID:18446632).

Dominant negative missense tend to have dominant inheritance patterns (PMID:15026311), while PTCs are generally recessive, though symptomatic carriers have been reported (OMIM).

Created: 17 Apr 2020, 6:17 a.m. | Last Modified: 17 Apr 2020, 6:17 a.m.

Panel Version: 0.2305

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Factor XI deficiency, autosomal dominant 612416; Factor XI deficiency, autosomal recessive

Publications

• PMID:18446632
• 15026311