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Hereditary angioedema types I and II

Gene: SERPING1

Green List (high evidence)

SERPING1 (serpin family G member 1)
EnsemblGeneIds (GRCh38): ENSG00000149131
EnsemblGeneIds (GRCh37): ENSG00000149131
OMIM: 606860, Gene2Phenotype
SERPING1 is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

20 Dec 2025, Gel status: 3

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

29 Jun 2023, Gel status: 3

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