COVID-19 research
Gene: PRSS1

PRSS1 (protease, serine 1)
EnsemblGeneIds (GRCh38): ENSG00000204983
EnsemblGeneIds (GRCh37): ENSG00000204983
OMIM: 276000, Gene2Phenotype
PRSS1 is in 3 panels

1 review

Eleanor Williams (Genomics England Curator)

Preprint: Klaassen et al https://doi.org/10.1101/2020.05.13.093690 - performed analysis of variants in FURIN, PLG, PRSS1, TMPRSS11a, MBL2 and OAS1 genes in 143 unrelated individuals from Serbian population and identified 22 variants with potential functional effect. Then used in-silico prediction and comparative population analysis and found two rare variants in the PRSS1 gene, c.592-8C>T and p.Asn54Lys. Variant c.592-8C>T was previously detected
in patients with cystic fibrosis presenting with chronic pancreatitis and p.Asn54Lys is predicted to be possibly damaging.
Sources: Literature
Created: 22 May 2020, 10:22 a.m.

Mode of inheritance
Unknown

Publications

https://doi.org/10.1101/2020.05.13.093690

Created: 22 May 2020, 10:22 a.m.

Panel version: 0.301

Details

Mode of Inheritance

Unknown

Sources

Literature

OMIM

276000

Clinvar variants

Variants in PRSS1

Penetrance

None

Publications

https://doi.org/10.1101/2020.05.13.093690

Panels with this gene

History Filter Activity

22 May 2020, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: PRSS1 was added gene: PRSS1 was added to COVID-19 research. Sources: Literature Mode of inheritance for gene: PRSS1 was set to Unknown Publications for gene: PRSS1 were set to https://doi.org/10.1101/2020.05.13.093690

COVID-19 research Gene: PRSS1