Level 3: Multi-system inflammatory/autoimmune disorders
Level 2: Rheumatological disorders
Version 1.33
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Amyloidosis, familial visceral, OMIM:105200
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Version 1.21
Latest signed off version: v1.18
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Amyloidosis, familial visceral, OMIM:105200
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Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.177
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Other
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Fibrinogen deficiency
- Hypodysfibrinogenemia,congenital,616004
- Dysfibrinogenemia,congenital,616004
- thrombosis
- Fibrinogen Dusart
- dysfibrinogenemia associated with recurrent thrombosis
- thrombophilia
- prolonged thrombin clotting
- Fibrinogen Caracas II
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Version 0.36
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review
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Not set
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Sources
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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, 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
- 105200 Amyloidosis, familial visceral
- 616004 Dysfibrinogenemia, congenital
- 616004 Hypodysfibrinogenemia, congenital
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Version 3.9
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, 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
- 616004 Hypodysfibrinogenemia, congenital
- 105200 Amyloidosis, familial visceral
- 616004 Dysfibrinogenemia, congenital
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Version 3.40
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Amber
Phenotypes
- Amyloidosis, familial visceral, OMIM:105200
Tags
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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
- Hypodysfibrinogenemia, congenital, 616004
- Amyloidosis, familial visceral, 105200
- Afibrinogenemia, congenital, 202400
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