PROC

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

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
No list PROC in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.43	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Phenotypes THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT # 176860 THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, # 612304
Green PROC in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thrombophilia 3 due to protein C deficiency MIM#176860 Thrombophilia 3 due to protein C deficiency MIM#612304
Green PROC in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombophilia due to protein C deficiency, autosomal dominant (176860) Thrombophilia due to protein C deficiency, autosomal recessive (612304)
Green PROC in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
Green PROC in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thrombophilia due to protein C deficiency
Green PROC in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thrombophilia due to protein C deficiency
Green PROC in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
Red PROC in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Thrombophilia due to protein C deficiency, autosomal dominant (176860) Thrombophilia due to protein C deficiency, autosomal recessive (612304)