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Severe Paediatric Disorders

Gene: FGA

Green List (high evidence)

FGA (fibrinogen alpha chain)
EnsemblGeneIds (GRCh38): ENSG00000171560
EnsemblGeneIds (GRCh37): ENSG00000171560
OMIM: 134820, Gene2Phenotype
FGA is in 7 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: FGA; Recommended initial gene rating: Green List (high evidence); Phenotypes: Afibrinogenemia, congenital, 202400 (3) | Amyloidosis, familial visceral, 105200 (3) | Dysfibrinogenemia, congenital, 616004 (3) | Hypodysfibrinogenemia, congenital, 616004 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | ND | ND
Created: 20 Feb 2020, 5:19 p.m. | Last Modified: 20 Feb 2020, 5:19 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Dysfibrinogenemia, congenital, 616004
  • Hypodysfibrinogenemia, congenital, 616004
  • Amyloidosis, familial visceral, 105200
  • Afibrinogenemia, congenital, 202400
OMIM
134820
Clinvar variants
Variants in FGA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene FGA was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene FGA were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400; Amyloidosis, familial visceral, 105200 for gene: FGA

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400; Amyloidosis, familial visceral, 105200 for gene: FGA

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, congenital, 616004; Afibrinogenemia, congenital, 202400; Amyloidosis, familial visceral, 105200 for gene: FGA

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Dysfibrinogenemia, congenital, 616004; Hypodysfibrinogenemia, congenital, 616004; Amyloidosis, familial visceral, 105200; Afibrinogenemia, congenital, 202400 for gene: FGA

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to FGA.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to FGA. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: FGA was added gene: FGA was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FGA was set to