Hereditary angioedema
Gene: SERPING1EnsemblGeneIds (GRCh38): ENSG00000149131
EnsemblGeneIds (GRCh37): ENSG00000149131
OMIM: 606860, Gene2Phenotype
SERPING1 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hereditary angioedema-1 and -2 (HAE1 and HAE2) are caused by mutation in the SERPING1 (C1HN) gene. The disorders are clinically indistinguishable: both are characterized by episodic local subcutaneous oedema and submucosal oedema involving the upper respiratory and gastrointestinal tracts. HAE1, representing 85% of patients, is characterized by serum levels of C1NH less than 35% of normal (Cicardi and Agostoni, 1996; Bowen et al., 2001). HAE2 is characterized by normal or even elevated C1NH levels, but the protein is nonfunctional.
Well established gene-disease association.Created: 14 Jul 2021, 12:07 p.m. | Last Modified: 14 Jul 2021, 12:07 p.m.
Panel Version: 0.15
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Angioedema, hereditary, 1 and 2, MIM# 106100
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Immunology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Angioedema, hereditary, 1 and 2, MIM# 106100
- OMIM
- 606860
- Clinvar variants
- Variants in SERPING1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: serping1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SERPING1 were changed from to Angioedema, hereditary, 1 and 2, MIM# 106100
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SERPING1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SERPING1 was added gene: SERPING1 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: SERPING1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted