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  2. Newborns additional phenotypes panel 1
  3. SERPING1
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Newborns additional phenotypes panel 1

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, 12:05 p.m. | Last Modified: 7 Mar 2025, 12:05 p.m.
Panel Version: 0.102
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: 0.100
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: 0.102
Created: 26 Sep 2024, 4:10 p.m.
Last Modified: 18 Nov 2025, 3:34 p.m.
Panel version: 0.102

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: 7 Jul 2023, 9:26 a.m. | Last Modified: 7 Jul 2023, 9:26 a.m.
Panel Version: 0.31
https://search.clinicalgenome.org/kb/genes/HGNC:1228 - dominantPMID: 32445210 - recessive
Created: 7 Jul 2023, 9:25 a.m. | Last Modified: 7 Jul 2023, 9:25 a.m.
Panel Version: 0.31
Created: 7 Jul 2023, 9:25 a.m.
Last Modified: 7 Jul 2023, 9:25 a.m.
Panel version: 0.31

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Hereditary angioedema, autosomal dominant
Tags
condition_removed
OMIM
606860
Clinvar variants
Variants in SERPING1
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
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 dominant

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

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity

Mafalda Gomes (Genomics England Curator)

gene: SERPING1 was added gene: SERPING1 was added to Newborns additional phenotypes panel 1. Sources: Expert Review Green Mode of inheritance for gene: SERPING1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SERPING1 were set to Hereditary angioedema Mode of pathogenicity for gene: SERPING1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments