PROS1

protein S
OMIM: 176880, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green PROS1 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.52

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 1.2374

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

review 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

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

review 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 1.1586

review 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

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