Inherited bleeding disorders

Gene: PROC

Green List (high evidence)

PROC (protein C, inactivator of coagulation factors Va and VIIIa)
EnsemblGeneIds (GRCh38): ENSG00000115718
EnsemblGeneIds (GRCh37): ENSG00000115718
OMIM: 612283, Gene2Phenotype
PROC 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 C 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 C 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
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • 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
OMIM
612283
Clinvar variants
Variants in PROC
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 PROC. 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)

PROC was added to Inherited bleeding disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services PROC was added to Inherited bleeding disorderspanel. Source: Radboud University Medical Center, Nijmegen PROC was added to Inherited bleeding disorderspanel. Source: UKGTN Model of inheritance for gene PROC 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)

PROC was added to Inherited bleeding disorderspanel. Source: Expert Review Green Model of inheritance for gene PROC 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)

PROC was created by ellenmcdonagh

9 Sep 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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