Familial hypercholesterolaemia

Gene: F13A1

Red List (low evidence)

F13A1 (coagulation factor XIII A chain)
EnsemblGeneIds (GRCh38): ENSG00000124491
EnsemblGeneIds (GRCh37): ENSG00000124491
OMIM: 134570, Gene2Phenotype
F13A1 is in 4 panels

1 review

Ellen Thomas (Genomics England)

Red List (low evidence)

Details

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
OMIM
134570
Clinvar variants
Variants in F13A1
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

F13A1 was added to Familial hypercholesterolaemiapanel. Source: Radboud University Medical Center, Nijmegen

7 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

F13A1 was added to Familial hypercholesterolaemiapanel. Sources: Radboud University Medical Center, Nijmegen