F8

coagulation factor VIII
OMIM: 300841, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green F8 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.43

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemophilia A, MIM# 306700
  • MONDO:0010602
  • Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071

Green F8 in Mendeliome


Version 1.1891

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Haemophilia A, MIM# 306700
  • MONDO:0010602
  • Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071

Green F8 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hemophilia A, 306700 (3)

Green F8 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • BabySeq Category A gene
  • Expert Review Green
Phenotypes
  • Hemophilia A

Red F8 in Prepair 1000+


Level 2: Screening
Version 1.9

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Mackenzie's Mission
Phenotypes
  • Hemophilia A, 306700 (3)
Tags
  • SV/CNV

Amber F8 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Haemophilia A, MIM#306700
Tags
  • treatable
  • haematological
  • technically challenging

Green F8 in Transplant Co-Morbidity Superpanel


Level 2: Screening
Version 0.18

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Thrombophilia 13, X-linked, due to factor VIII defect, MIM# 301071
  • MONDO:0010602
  • Haemophilia A, MIM# 306700