Inherited bleeding disorders
Gene: SERPINF2EnsemblGeneIds (GRCh38): ENSG00000167711
EnsemblGeneIds (GRCh37): ENSG00000167711
OMIM: 613168, Gene2Phenotype
SERPINF2 is in 2 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alpha 2 antiplasmin deficiency
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Alpha 2 antiplasmin deficiency
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- BRIDGE Study Tier 1 Gene
- Phenotypes
-
- Alpha 2 antiplasmin deficiency
- OMIM
- 613168
- Clinvar variants
- Variants in SERPINF2
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Revised 19 December 2016
Added New Source
Louise Daugherty (Genomics England Curator)SERPINF2 was added to Inherited bleeding disorderspanel. Source: Expert Review Green
Added New Source
Ellen McDonagh (Genomics England Curator)SERPINF2 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene
Created
Ellen McDonagh (Genomics England Curator)SERPINF2 was created by ellenmcdonagh