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| Bleeding and Platelet Disorders v1.51 | SERPINC1 | Zornitza Stark Marked gene: SERPINC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.51 | SERPINC1 | Zornitza Stark Gene: serpinc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.51 | SERPINC1 | Zornitza Stark edited their review of gene: SERPINC1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.51 | SERPINC1 | Zornitza Stark Classified gene: SERPINC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.51 | SERPINC1 | Zornitza Stark Gene: serpinc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.50 | SERPINC1 | Zornitza Stark reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 7 due to antithrombin III deficiency #613118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and Platelet Disorders v1.47 | SERPINC1 |
Jane Lin gene: SERPINC1 was added gene: SERPINC1 was added to Bleeding and Platelet Disorders. Sources: Expert list Mode of inheritance for gene: SERPINC1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SERPINC1 were set to PMID: 14347873; PMID: 36624481; PMID: 28300866 Phenotypes for gene: SERPINC1 were set to Thrombophilia 7 due to antithrombin III deficiency #613118 Review for gene: SERPINC1 was set to GREEN gene: SERPINC1 was marked as current diagnostic Added comment: Well established gene-phenotype relationship. Mostly autosomal dominant inheritance (autosomal recessive inheritance is rare but has been published). Have listed an early publication (1965) establishing this link and two more recent papers. Sources: Expert list |
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