Inherited bleeding disorders

Gene: PROS1

Green List (high evidence)

PROS1 (protein S)
EnsemblGeneIds (GRCh38): ENSG00000184500
EnsemblGeneIds (GRCh37): ENSG00000184500
OMIM: 176880, Gene2Phenotype
PROS1 is in 2 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Protein S deficiency

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Protein S deficiency

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
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 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
OMIM
176880
Clinvar variants
Variants in PROS1
Penetrance
Complete
Panels with this gene

History Filter Activity

20 Aug 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Eligibility statement prior genetic testing was added to PROS1. Panel: Inherited bleeding disorders

19 Dec 2016, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Revised 19 December 2016

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

PROS1 was added to Inherited bleeding disorderspanel. Source: UKGTN PROS1 was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen PROS1 was added to Inherited bleeding disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene PROS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

19 Dec 2016, Gel status: 4

Set Mode of Inheritance, Added New Source

Louise Daugherty (Genomics England Curator)

PROS1 was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene PROS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

9 Sep 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PROS1 was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PROS1 was added to Inherited bleeding disorderspanel. Sources: BRIDGE Study Tier 1 Gene