Inherited bleeding disorders

Gene: SERPINF2

Green List (high evidence)

SERPINF2 (serpin family F member 2)
EnsemblGeneIds (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)

Green List (high evidence)

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

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SERPINF2 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINF2 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SERPINF2 was created by ellenmcdonagh