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Fetal anomalies

Gene: PROC

Amber List (moderate evidence)
PROC (protein C, inactivator of coagulation factors Va and VIIIa)
EnsemblGeneIds (GRCh38): ENSG00000115718
EnsemblGeneIds (GRCh37): ENSG00000115718
OMIM: 612283, Gene2Phenotype
PROC is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Elizabeth Wall (Birmingham Women's and Children's Hospital)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Gene-diease: semidominant hereditary thrombophilia due to congenital protein C deficiency. Relatively common. Over 400 variants (primarily missense, but also nonsense, splicing, frameshifts, etc), with segregation, functional data and mouse models. Definitive on Clingen, green on paediatric disorders panel. BIALLELIC variants: very rare. Severe phenotype, presents with purpura fulminans, ophthalmic complications and thrombotic stroke in the newborn period. Prenatal phenotype: PMID: 24122877: 35/40 fetus with bilateral ischemic brain injury resulting in severe porencephaly. PMID 30/40 fetus with deep periventricular vein thrombosis with parenchymal hemorrhage and ischaemia on fMRI
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Thrombophilia 3 due to protein C deficiency, autosomal recessive

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Thrombophilia 3 due to protein C deficiency, autosomal recessive
OMIM
612283
Clinvar variants
Variants in PROC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

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

Arina Puzriakova (Genomics England Curator)

gene: PROC was added gene: PROC was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PROC were set to 39763161 Phenotypes for gene: PROC were set to Thrombophilia 3 due to protein C deficiency, autosomal recessive