Vascular skin disorders

Gene: F12

Green List (high evidence)

F12 (coagulation factor XII)
EnsemblGeneIds (GRCh38): ENSG00000131187
EnsemblGeneIds (GRCh37): ENSG00000131187
OMIM: 610619, Gene2Phenotype
F12 is in 6 panels

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Not really a vascular skin disorder? Episodic swelling.
Created: 2 Jul 2020, 4:03 a.m. | Last Modified: 2 Jul 2020, 4:03 a.m.
Panel Version: 1.3

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

Publications

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: F12; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.
Created: 31 Jan 2019, 12:05 p.m.

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
Phenotypes
  • Hereditary angioedema
OMIM
610619
Clinvar variants
Variants in F12
Penetrance
None
Panels with this gene

History Filter Activity

18 Feb 2019, Gel status: 4

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to F12.

31 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: F12 was added gene: F12 was added to Vascular skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: F12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: F12 were set to Hereditary angioedema