Inherited bleeding disorders

Gene: SERPIND1

Green List (high evidence)

SERPIND1 (serpin family D member 1)
EnsemblGeneIds (GRCh38): ENSG00000099937
EnsemblGeneIds (GRCh37): ENSG00000099937
OMIM: 142360, Gene2Phenotype
SERPIND1 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Heparin cofactor 2 deficiency

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Heparin cofactor 2 deficiency

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Heparin cofactor 2 deficiency
  • Thrombophilia due to heparin cofactor II deficiency,612356
  • Thrombophilia due to heparin cofactor II deficiency 612356
OMIM
142360
Clinvar variants
Variants in SERPIND1
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Aug 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Eligibility statement prior genetic testing was added to SERPIND1. Panel: Inherited bleeding disorders

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

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for SERPIND1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SERPIND1 was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen SERPIND1 was added to Inherited bleeding disorderspanel. Source: Other Model of inheritance for gene SERPIND1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Dec 2016, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

SERPIND1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SERPIND1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SERPIND1 was created by ellenmcdonagh