Complement Deficiencies

Gene: SERPING1

Green List (high evidence)

SERPING1 (serpin family G member 1)
EnsemblGeneIds (GRCh38): ENSG00000149131
EnsemblGeneIds (GRCh37): ENSG00000149131
OMIM: 606860, Gene2Phenotype
SERPING1 is in 5 panels

1 review

Samantha Ayres (Victorian Clinical Genetics Services)

Green List (high evidence)

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: 8 Apr 2022, 10:35 a.m. | Last Modified: 8 Apr 2022, 10:35 a.m.
Panel Version: 0.12787

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Angioedema, hereditary, 1 and 2, MIM#106100; Complement component 4, partial deficiency of, MIM#120790

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
OMIM
606860
Clinvar variants
Variants in SERPING1
Penetrance
None
Panels with this gene

History Filter Activity

17 Nov 2019, Gel status: 3

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 Complement deficiencies_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 Unknown