Bleeding and Platelet Disorders
Gene: SERPINC1EnsemblGeneIds (GRCh38): ENSG00000117601
EnsemblGeneIds (GRCh37): ENSG00000117601
OMIM: 107300, Gene2Phenotype
SERPINC1 is in 5 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
DEFINITIVE by ClinGenCreated: 13 Aug 2024, 1:35 a.m. | Last Modified: 13 Aug 2024, 1:35 a.m.
Panel Version: 1.50
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Thrombophilia 7 due to antithrombin III deficiency #613118
Jane Lin (The Alfred Hospital)
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 listCreated: 12 Aug 2024, 3:13 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Thrombophilia 7 due to antithrombin III deficiency #613118
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Thrombophilia 7 due to antithrombin III deficiency #613118
- OMIM
- 107300
- Clinvar variants
- Variants in SERPINC1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: serpinc1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: serpinc1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Jane Lin (The Alfred Hospital)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