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
Phenotypes for gene: SERPINC1 were changed from Antithrombin deficiency; Thrombophilia due to antithrombin III deficiency 613118; Antithrombin III Deficiency; Antithrombin-III Deficiency to Thrombophilia due to antithrombin III deficiency, OMIM:613118
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