PROS1

protein S
OMIM: 176880, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PROS1 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.52	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Thrombophilia 5 due to protein S deficiency, autosomal dominant #612336 Thrombophilia 5 due to protein S deficiency, autosomal recessive #614514
Green PROS1 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336 Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514
Green PROS1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
Green PROS1 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	1 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 S deficiency
Green PROS1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Protein S deficiency
Green PROS1 in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Thrombophilia due to protein S deficiency, autosomal recessive, 614514 (3)
Red PROS1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336 Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514