SERPINC1

serpin family C member 1
OMIM: 107300, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green SERPINC1 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.177

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Thrombophilia due to antithrombin III deficiency, OMIM:613118
Green SERPINC1 in Thrombophilia with a likely monogenic cause


Version 2.5
Latest signed off version: v2.2 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • North West GLH
  • Yorkshire and North East GLH
  • London South GLH
  • NHS GMS
  • Expert Review Green
  • Wessex and West Midlands GLH
Phenotypes
  • Thrombophilia due to antithrombin III deficiency, OMIM:613118