SERPIND1

serpin family D member 1
OMIM: 142360, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green SERPIND1 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • heparin cofactor 2 deficiency, MONDO:0012876
  • Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356

Green SERPIND1 in Mendeliome


Version 1.2374

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • heparin cofactor 2 deficiency, MONDO:0012876
  • Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356

Red SERPIND1 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Heparin cofactor 2 deficiency

Red SERPIND1 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Heparin cofactor 2 deficiency