PROC

protein C, inactivator of coagulation factors Va and VIIIa
OMIM: 612283, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Green PROC in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.178

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Green PROC in Thrombophilia with a likely monogenic cause


Version 2.5
Latest signed off version: v2.2 (22 Mar 2023)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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
Green PROC in Severe Paediatric Disorders


Version 1.184

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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