Hereditary angioedema
Gene: F12EnsemblGeneIds (GRCh38): ENSG00000131187
EnsemblGeneIds (GRCh37): ENSG00000131187
OMIM: 610619, Gene2Phenotype
F12 is in 2 panels
3 reviews
Sangavi Sivagnanasundram (Melbourne Health)
Update to ClinGen Hemostasis Thrombosis VCEP - classified as DEFINITIVE for this gene-disease association on 04/09/2024 - https://search.clinicalgenome.org/CCID:004793Created: 6 Sep 2024, 1:38 a.m. | Last Modified: 6 Sep 2024, 1:38 a.m.
Panel Version: 1.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
hereditary angioedema type 3 MONDO:0012526
Bryony Thompson (Royal Melbourne Hospital)
Gain-of-function variants (Thr309Lys - recurrent founder, Thr309Arg, c.971_1018+24del72) altering a proline-rich region and involving Thr309 (also known as Thr328) are reported in at least 7 families, with supporting segregation evidence. A Thr309Lys mouse model recapitulates the human phenotype (increased contact-driven microvascular leakage). Also, an 18 bp duplication of uncertain significance (c.892_909dup p.298-303) has also been reported in a single family.
MODERATE gene-disease validity classification by the ClinGen Hemostasis Thrombosis VCEP, Classification - 01/23/2020Created: 14 Apr 2022, 6:32 a.m. | Last Modified: 14 Apr 2022, 6:32 a.m.
Panel Version: 1.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary angioedema type 3 MONDO:0012526
Publications
Mode of pathogenicity
Other
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported with the founder p.Thr309Lys variant. Bi-allelic variants cause F12 deficiency.Created: 14 Jul 2021, 12:03 p.m. | Last Modified: 14 Jul 2021, 12:03 p.m.
Panel Version: 0.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Angioedema, hereditary, 3, MIM# 610618
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Angioedema, hereditary, 3, MIM# 610618
- Tags
- OMIM
- 610619
- Clinvar variants
- Variants in F12
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: F12 were set to 16638441; 17186468; 19178938
Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)Mode of pathogenicity for gene: F12 was changed from to Other
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: f12 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: f12 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: F12 were changed from to Angioedema, hereditary, 3, MIM# 610618
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: F12 were set to
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: F12.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: f12 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: F12 was added gene: F12 was added to Hereditary angioedema_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: F12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted