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  2. Congenital Diarrhoea
  3. PRSS1
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Congenital Diarrhoea

Gene: PRSS1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Diarrhoea is a presenting feature, due to malabsorption.
Created: 5 Jan 2021, 8:40 a.m. | Last Modified: 5 Jan 2021, 8:40 a.m.
Panel Version: 0.60

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pancreatitis, hereditary, MIM# 167800

Publications

Created: 5 Jan 2021, 8:40 a.m.
Last Modified: 5 Jan 2021, 8:40 a.m.
Panel version: 0.60

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pancreatitis, hereditary, MIM# 167800
OMIM
276000
Clinvar variants
Variants in PRSS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: prss1 has been classified as Green List (High Evidence).

5 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PRSS1 were changed from to Pancreatitis, hereditary, MIM# 167800

5 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PRSS1 were set to

5 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PRSS1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PRSS1 was added gene: PRSS1 was added to Congenital Diarrhoea_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PRSS1 was set to Unknown