1. Panels
  2. Bleeding and Platelet Disorders
  3. PROC
STRs in panel
Prev Next
Regions in panel
Prev Next

Bleeding and Platelet 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 8 panels

1 review

Jane Lin (The Alfred Hospital)

Green List (high evidence)

Has well established gene-disease association with thrombosis. Biallelic inheritance is rare and there is evidence it is more severe but data is complicated by findings that some patients also have changes in Factor V Leiden so have not selected the option where biallelic inheritance is more severe.
Sources: Expert list
Created: 23 Jul 2024, 3:13 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT # 176860; THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, # 612304

Publications

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

Created: 23 Jul 2024, 3:13 a.m.

Panel version: 1.43

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Thrombophilia 3 due to protein C deficiency MIM#176860
  • Thrombophilia 3 due to protein C deficiency MIM#612304
OMIM
612283
Clinvar variants
Variants in PROC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jul 2024, 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).

24 Jul 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PROC were changed from THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT # 176860; THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, # 612304 to Thrombophilia 3 due to protein C deficiency MIM#176860; Thrombophilia 3 due to protein C deficiency MIM#612304

24 Jul 2024, 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).

23 Jul 2024, Gel status: 0

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

Jane Lin (The Alfred Hospital)

gene: PROC was added gene: PROC was added to Bleeding and Platelet Disorders. Sources: Expert list Mode of inheritance for gene: PROC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PROC were set to PMID: 2437584; PMID: 7670104; PMID: 10942114; PMID: 28265398 Phenotypes for gene: PROC were set to THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT # 176860; THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE, # 612304 Review for gene: PROC was set to GREEN gene: PROC was marked as current diagnostic