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  3. SERPINC1
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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

Created: 19 Dec 2016, 11:31 a.m.

Panel version: 0.18

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

Created: 19 Dec 2016, 11:18 a.m.

Panel version: 0.17

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
  • Thrombophilia due to antithrombin III deficiency, OMIM:613118
OMIM
107300
Clinvar variants
Variants in SERPINC1
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Oct 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: SERPINC1 were changed from Antithrombin deficiency; Thrombophilia due to antithrombin III deficiency 613118; Antithrombin III Deficiency; Antithrombin-III Deficiency to Thrombophilia due to antithrombin III deficiency, OMIM:613118

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