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Prepair 1000+

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 8 panels

3 reviews

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe protein C deficiency due to biallelic PROC mutations is an extremely rare thrombophilia, most commonly presenting during the neonatal period as purpura fulminans.

HGNC approved symbol/name: PROC
Is the phenotype(s) severe and onset <18yo? Y
Created: 20 Jan 2025, 5:43 a.m. | Last Modified: 20 Jan 2025, 5:43 a.m.
Panel Version: 1.1235

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombophilia 3 due to protein C deficiency, autosomal recessive MIM#612304, MONDO:0012860

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic disease is generally severe and early onset.
Created: 17 Aug 2022, 6:56 a.m. | Last Modified: 17 Aug 2022, 6:56 a.m.
Panel Version: 0.135

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304)

Crystle Lee (Victorian Clinical Genetics Services)

I don't know

Gene is associated AD and AR thrombophilia 3 due to protein C deficiency

AR form of condition is associated with variable severity and occasional late-onset of symptoms with homozygosity

Heterozygous 'carriers' of pathogenic variants in the PROC gene are said to have mild protein C deficiency which is often asymptomatic, but may involve recurrent venous thrombosis.

Difficult to define penetrance as represents risk factor for thrombophilia.

Challenge in interpretation and reporting in a carrier screening context
Created: 19 Jul 2022, 12:51 a.m. | Last Modified: 19 Jul 2022, 12:51 a.m.
Panel Version: 0.50

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

Phenotypes
Thrombophilia 3 due to protein C deficiency, autosomal recessive (MIM#612304); Thrombophilia 3 due to protein C deficiency, autosomal dominant (MIM#176860)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)
OMIM
612283
Clinvar variants
Variants in PROC
Penetrance
None
Panels with this gene

History Filter Activity

17 Aug 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: proc has been classified as Green List (High Evidence).

17 Aug 2022, Gel status: 3

Removed Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review was removed from gene: PROC.

20 Jul 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag for review tag was added to gene: PROC.

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PROC was added gene: PROC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency, autosomal recessive, 612304 (3)