F13A1

coagulation factor XIII A chain
OMIM: 134570, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red F13A1 in Familial hypercholesterolaemia

Level 3: Arteriopathies
Level 2: Cardiovascular disorders
Version 1.30

review Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Factor XIIIA deficiency, 613225
  • {Myocardial infarction, protection against}, 608446
  • {Venous thrombosis, protection against}, 188050
  • {Myocardial infarction, protection against}, 608446
  • {Venous thrombosis, protection against}, 188050
Green F13A1 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.175

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Factor XIIIA deficiency, OMIM:613225
Green F13A1 in Bleeding and platelet disorders


Version 3.7
Latest signed off version: v3.0 (22 Mar 2023)

review BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), 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
  • Factor XIIIA deficiency, OMIM:613225
Green F13A1 in Severe Paediatric Disorders


Version 1.182

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Factor XIIIA deficiency, 613225
Green F13A1 in Factor XIII deficiency


Version 1.1
Latest signed off version: v1.0 (14 Sep 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green