Inherited bleeding disorders
Gene: SERPINC1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Antithrombin deficiency
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Antithrombin deficiency
Variants in this GENE are reported as part of current diagnostic practice
Eligibility statement prior genetic testing was added to SERPINC1. Panel: Inherited bleeding disorders
Revised 19 December 2016
Mode of inheritance for SERPINC1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
SERPINC1 was added to Inherited bleeding disorderspanel. Source: UKGTN SERPINC1 was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen SERPINC1 was added to Inherited bleeding disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SERPINC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
SERPINC1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene SERPINC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
SERPINC1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
SERPINC1 was created by ellenmcdonagh