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Severe Paediatric Disorders

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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SERPING1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Angioedema, hereditary, types I and II, 106100 (3) | Complement component 4, partial deficiency of, 120790 (3); Mode of inheritance: Autosomal recessive, Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Complement component 4, partial deficiency of, 120790
  • Angioedema, hereditary, types I and II, 106100
OMIM
606860
Clinvar variants
Variants in SERPING1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SERPING1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Complement component 4, partial deficiency of, 120790; Angioedema, hereditary, types I and II, 106100 for gene: SERPING1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Complement component 4, partial deficiency of, 120790; Angioedema, hereditary, types I and II, 106100 for gene: SERPING1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Complement component 4, partial deficiency of, 120790; Angioedema, hereditary, types I and II, 106100 for gene: SERPING1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Angioedema, hereditary, types I and II, 106100; Complement component 4, partial deficiency of, 120790 for gene: SERPING1

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SERPING1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Complement component 4, partial deficiency of, 120790; Angioedema, hereditary, types I and II, 106100 for gene: SERPING1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SERPING1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SERPING1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SERPING1 was added gene: SERPING1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SERPING1 was set to