Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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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
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Version 2.5
Latest signed off version: v2.2
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- Afibrinogenemia, congenital, OMIM:202400
- Hypofibrinogenemia, congenital, OMIM:202400
- Dysfibrinogenemia, congenital, OMIM:616004
- Thrombophilia, MONDO:0002305
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Version 3.10
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- North West GLH
- Yorkshire and North East GLH
- London South GLH
- NHS GMS
- Expert Review Green
- Wessex and West Midlands GLH
Phenotypes
- 202400 Afibrinogenemia, congenital
- 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital, 616004 Dysfibrinogenemia, congenital
- 616004 Dysfibrinogenemia, congenital
- 202400 Hypofibrinogenemia, congenital
- 202400 Afibrinogenemia, congenital, Hypofibrinogenemia, congenital
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Version 1.184
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Dysfibrinogenemia, congenital, 616004
- Afibrinogenemia, congenital, 202400
- Hypofibrinogenemia, congenital, 202400
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