Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.176
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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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
- Protein C deficiency
- Protein C Deficiency
- Thrombophilia due to protein C deficiency, autosomal dominant 176860
- Thrombophilia due to protein C deficiency, autosomal recessive 612304
- Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
- Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
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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
- Thrombophilia due to protein C deficiency, autosomal recessive, OMIM:612304
- Thrombophilia due to protein C deficiency, autosomal dominant, OMIM:176860
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Version 1.182
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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
- Thrombophilia due to protein C deficiency, autosomal recessive, 612304
- Thrombophilia due to protein C deficiency, autosomal dominant, 176860
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