Inherited bleeding disorders

Gene: SERPINC1

Green List (high evidence)

SERPINC1 (serpin family C member 1)
EnsemblGeneIds (GRCh38): ENSG00000117601
EnsemblGeneIds (GRCh37): ENSG00000117601
OMIM: 107300, Gene2Phenotype
SERPINC1 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Antithrombin deficiency

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Antithrombin deficiency

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
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Antithrombin deficiency
  • Thrombophilia due to antithrombin III deficiency 613118
  • Antithrombin III Deficiency
  • Antithrombin-III Deficiency
OMIM
107300
Clinvar variants
Variants in SERPINC1
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 SERPINC1. 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 SERPINC1 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINC1 was added to Inherited bleeding disorderspanel. Source: UKGTN SERPINC1 was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen SERPINC1 was added to Inherited bleeding disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene SERPINC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Louise Daugherty (Genomics England Curator)

SERPINC1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene SERPINC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SERPINC1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

SERPINC1 was created by ellenmcdonagh