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, autosomal or pseudoautosomal
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Sources
- Eligibility statement prior genetic testing
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- BRIDGE Study Tier 1 Gene
Phenotypes
- Protein S deficiency
- Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
- Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
- Thrombophilia due to protein S deficiency, autosomal dominant 612336
- Thrombophilia due to protein S deficiency, autosomal recessive 614514
- Protein S Deficiency
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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 S deficiency, autosomal dominant, OMIM:612336
- Thrombophilia due to protein S deficiency, autosomal recessive, OMIM:614514
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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
- Thrombophilia due to protein S deficiency, autosomal dominant, 612336
- Thrombophilia due to protein S deficiency, autosomal recessive, 614514
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