1. Genes and Genomic Entities
  2. SERPIND1

SERPIND1

serpin family D member 1
OMIM: 142360, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green SERPIND1 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Other
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Heparin cofactor 2 deficiency
  • Thrombophilia due to heparin cofactor II deficiency,612356
  • Thrombophilia due to heparin cofactor II deficiency 612356
Green SERPIND1 in Thrombophilia with a likely monogenic cause


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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 heparin cofactor II deficiency, OMIM:612356