Inherited bleeding disorders
Gene: SERPINE1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Plasminogen activator Inhibitor 1 deficiency
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Plasminogen activator Inhibitor 1 deficiency
Variants in this GENE are reported as part of current diagnostic practice
Elevated SERPINE1 is a risk factor for thrombosis.Created: 25 Oct 2016, 9:44 a.m.
Mode of pathogenicity
Other
Revised 19 December 2016
Mode of inheritance for SERPINE1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
SERPINE1 was added to Inherited bleeding disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services SERPINE1 was added to Inherited bleeding disorderspanel. Source: Other SERPINE1 was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen Model of inheritance for gene SERPINE1 was set to Unknown
SERPINE1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene SERPINE1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
SERPINE1 was created by ellenmcdonagh
SERPINE1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene