Inherited bleeding disorders

Gene: F12

Green List (high evidence)

F12 (coagulation factor XII)
EnsemblGeneIds (GRCh38): ENSG00000131187
EnsemblGeneIds (GRCh37): ENSG00000131187
OMIM: 610619, Gene2Phenotype
F12 is in 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE project
Created: 9 Aug 2017, 1:23 p.m.

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, observed in the NIHRBR-RD BRIDGE cohort.
Created: 9 Aug 2017, 12:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Coagulaton disorder; Angioedema, hereditary, type 3; Factor 12 deficiency

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coagulaton disorder
  • Angioedema, hereditary, type 3 (AD)
  • Angioedema, hereditary, type III
  • Factor 12 deficiency (AR)
  • Factor XII deficiency
OMIM
610619
Clinvar variants
Variants in F12
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

9 Aug 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for F12 were set to Coagulaton disorder; Angioedema, hereditary, type 3 (AD); Angioedema, hereditary, type III; Factor 12 deficiency (AR);Factor XII deficiency

9 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Aug 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

F12 was created by BRIDGE

9 Aug 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

F12 was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene