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Newborns main panel

Gene: SERPING1

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

2 reviews

Arina Puzriakova (Genomics England Curator)

Removed from pipeline on 04 Mar 2025 (resource release 7.1)
Created: 7 Mar 2025, 12:06 p.m. | Last Modified: 7 Mar 2025, 12:06 p.m.
Panel Version: 0.480
Special Consideration: Gene removed from study but not the pipeline.

Additional Information: A decision was made to remove this gene from the study. Variants should be ignored while the gene is being removed from the pipeline.
Created: 12 Nov 2024, 3:03 p.m. | Last Modified: 12 Nov 2024, 3:03 p.m.
Panel Version: 0.469
Special Consideration: Multiple MOIs for the same phenotype included.

Additional Information: AD and AR forms of Hereditary angioedema are included.
Created: 26 Sep 2024, 4:10 p.m. | Last Modified: 18 Nov 2025, 3:34 p.m.
Panel Version: 0.480
Created: 26 Sep 2024, 4:10 p.m.
Last Modified: 18 Nov 2025, 3:34 p.m.
Panel version: 0.480

Mafalda Gomes (Genomics England Curator)

The mechanisms of pathogenicity are loss-of-function (LOF) for autosomal recessive MOI and dominant-negative (DN) for autosomal dominant MOI.
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 7 Jul 2023, 9:25 a.m.
Panel Version: 0.146
https://search.clinicalgenome.org/kb/genes/HGNC:1228 - dominantPMID: 32445210 - recessive
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 7 Jul 2023, 9:25 a.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Hereditary angioedema, autosomal recessive
Tags
condition_removed
OMIM
606860
Clinvar variants
Variants in SERPING1
Penetrance
None
Panels with this gene

History Filter Activity

7 Mar 2025, Gel status: 2

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration was removed from gene: SERPING1.

20 Nov 2024, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: serping1 has been classified as Amber List (Moderate Evidence).

12 Nov 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag condition_removed tag was added to gene: SERPING1.

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: SERPING1.

6 Feb 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SERPING1 were changed from Hereditary angioedema to Hereditary angioedema, autosomal recessive

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hereditary angioedema for gene: SERPING1

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SERPING1. Mode of inheritance for gene SERPING1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hereditary angioedema for gene: SERPING1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SERPING1. Added phenotypes Hereditary angioedema for gene: SERPING1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SERPING1. Added phenotypes Hereditary angioedema for gene: SERPING1 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SERPING1 was added gene: SERPING1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SERPING1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal