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  2. Stroke
  3. SERPINC1
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Stroke

Gene: SERPINC1

Green List (high evidence)
SERPINC1 (serpin family C member 1)
EnsemblGeneIds (GRCh38): ENSG00000117601
EnsemblGeneIds (GRCh37): ENSG00000117601
OMIM: 107300, Gene2Phenotype
SERPINC1 is in 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

There is a high incidence of stroke in the condition.
Sources: Literature
Created: 12 May 2020, 7:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombophilia due to antithrombin III deficiency MIM#613118

Publications

Created: 12 May 2020, 7:11 a.m.

Panel version: 0.49

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Thrombophilia due to antithrombin III deficiency MIM#613118
OMIM
107300
Clinvar variants
Variants in SERPINC1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: serpinc1 has been classified as Green List (High Evidence).

12 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: serpinc1 has been classified as Green List (High Evidence).

12 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SERPINC1 was added gene: SERPINC1 was added to Stroke. Sources: Literature Mode of inheritance for gene: SERPINC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINC1 were set to 31359133; 30356112; 23910795 Phenotypes for gene: SERPINC1 were set to Thrombophilia due to antithrombin III deficiency MIM#613118 Review for gene: SERPINC1 was set to GREEN