Vascular skin disorders
Gene: F12EnsemblGeneIds (GRCh38): ENSG00000131187
EnsemblGeneIds (GRCh37): ENSG00000131187
OMIM: 610619, Gene2Phenotype
F12 is in 5 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the mode of inheritance of this gene has not been changed and remains 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal'.Created: 31 Jan 2023, 4:29 p.m. | Last Modified: 31 Jan 2023, 4:29 p.m.
Panel Version: 1.50
This gene will be flagged for GMS review regarding the pertinence of monoallelic variants to this panel and whether the MOI should remain as 'both mono- and biallelic' or changed to 'biallelic' only.
Monoallelic variants are associated with hereditary angioedema (MIM# 610618) characterised clinically by recurrent skin swelling but otherwise no other skin phenotypes. Biallelic variants cause a separate disorder, factor XII deficiency (MIM# 234000) associated with hypercoagulation. Skin manifestations may occur in some cases including ulcers and superficial thrombophlebitis in the limbs and trunk.Created: 21 Mar 2022, 2:13 p.m. | Last Modified: 21 Mar 2022, 2:13 p.m.
Panel Version: 1.48
Zornitza Stark (Australian Genomics)
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
Rebecca Foulger (Genomics England curator)
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
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Angioedema, hereditary, type III, OMIM:610618
- Factor XII deficiency, OMIM:234000
- OMIM
- 610619
- Clinvar variants
- Variants in F12
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_22_MOI was removed from gene: F12. Tag Q2_22_expert_review was removed from gene: F12.
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_22_MOI tag was added to gene: F12. Tag Q2_22_expert_review tag was added to gene: F12.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: F12 were changed from Angioedema, hereditary, type III, OMIM:610618 to Angioedema, hereditary, type III, OMIM:610618; Factor XII deficiency, OMIM:234000
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: F12 were changed from Hereditary angioedema to Angioedema, hereditary, type III, OMIM:610618
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: F12 were set to
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to F12.
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