Stroke
Gene: SERPINC1
Well established gene-disease mechanism first described in 1984. Multiple affected families and segregations described in the literature. Usually autosomal dominant, however biallalic cases have also been reported - more severe presentation.
Curated by ClinGen as 'definitive' in 2020.Created: 4 Apr 2022, 1:18 a.m. | Last Modified: 4 Apr 2022, 1:18 a.m.
Panel Version: 0.12503
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
hereditary antithrombin deficiency MONDO:0013144; Thrombophilia 7 due to antithrombin III deficiency, MIM#613118
Publications
There is a high incidence of stroke in the condition.
Sources: LiteratureCreated: 12 May 2020, 7:11 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thrombophilia due to antithrombin III deficiency MIM#613118
Publications
Gene: serpinc1 has been classified as Green List (High Evidence).
Gene: serpinc1 has been classified as Green List (High Evidence).
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