Hereditary angioedema types I and II
Gene: SERPING1EnsemblGeneIds (GRCh38): ENSG00000149131
EnsemblGeneIds (GRCh37): ENSG00000149131
OMIM: 606860, Gene2Phenotype
SERPING1 is in 3 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotype in OMIM (MIM #106100) and the OMIM record was last accessed on 20 December 2025.Created: 20 Dec 2025, 6:08 p.m. | Last Modified: 20 Dec 2025, 6:08 p.m.
Panel Version: 1.2
SERPING1 has been added to the panel for R341 Hereditary angioedema types I and II with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:35 p.m. | Last Modified: 30 Jun 2023, 1:35 p.m.
Panel Version: 0.1
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Angioedema, hereditary, 1 and 2, OMIM:106100
- hereditary angioedema with C1Inh deficiency, MONDO:0033946
- OMIM
- 606860
- Clinvar variants
- Variants in SERPING1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SERPING1 were changed from to Angioedema, hereditary, 1 and 2, OMIM:106100; hereditary angioedema with C1Inh deficiency, MONDO:0033946
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: SERPING1 was added gene: SERPING1 was added to Hereditary angioedema types I and II. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: SERPING1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal