Stroke
Gene: PROCEnsemblGeneIds (GRCh38): ENSG00000115718
EnsemblGeneIds (GRCh37): ENSG00000115718
OMIM: 612283, Gene2Phenotype
PROC is in 8 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
PC deficiency is a cause for the development of stroke, particularly in young adults.
Sources: LiteratureCreated: 12 May 2020, 6:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Thrombophilia due to protein C deficiency
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Thrombophilia due to protein C deficiency
- OMIM
- 612283
- Clinvar variants
- Variants in PROC
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: proc has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: proc has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PROC was added gene: PROC was added to Stroke. Sources: Literature Mode of inheritance for gene: PROC was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: PROC were set to 1511989; 20187890; 30356112; 32351850 Phenotypes for gene: PROC were set to Thrombophilia due to protein C deficiency Review for gene: PROC was set to GREEN