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  3. FGB
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Inherited bleeding disorders

Gene: FGB

Green List (high evidence)
FGB (fibrinogen beta chain)
EnsemblGeneIds (GRCh38): ENSG00000171564
EnsemblGeneIds (GRCh37): ENSG00000171564
OMIM: 134830, Gene2Phenotype
FGB is in 3 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
Fibrinogen 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
Fibrinogen 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
  • Radboud University Medical Center, Nijmegen
  • Other
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Fibrinogen deficiency
  • Dysfibrinogenemia,congenital,616004
  • dysbetafibrinogenemia with thrombosis
  • Thrombophilia in association with congenital dysfibrinogenemia
OMIM
134830
Clinvar variants
Variants in FGB
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

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for FGB 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)

FGB was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen FGB was added to Inherited bleeding disorderspanel. Source: Other Model of inheritance for gene FGB 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)

FGB was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene FGB 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

Created

Ellen McDonagh (Genomics England Curator)

FGB was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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