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Pancreatitis
Gene: CPA1

CPA1 (carboxypeptidase A1)
EnsemblGeneIds (GRCh38): ENSG00000091704
EnsemblGeneIds (GRCh37): ENSG00000091704
OMIM: 114850, Gene2Phenotype
CPA1 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Conflicting evidence regarding enrichment of rare variants in chronic pancreatitis cohorts. However, three families reported where variants segregated with disease in a Mendelian pattern and relatively high penetrance.
Created: 27 Jul 2020, 2:40 a.m. | Last Modified: 27 Jul 2020, 2:40 a.m.

Panel Version: 0.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hereditary pancreatitis, MONDO:0008185, CPA1-related

Publications

Created: 27 Jul 2020, 2:40 a.m.
Last Modified: 27 Jul 2020, 2:40 a.m.
Panel version: 1.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hereditary pancreatitis, MONDO:0008185, CPA1-related

OMIM

Clinvar variants

Variants in CPA1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CPA1 were changed from Susceptibility to chronic pancreatitis; Hereditary pancreatitis to Hereditary pancreatitis, MONDO:0008185, CPA1-related

27 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cpa1 has been classified as Green List (High Evidence).

27 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CPA1 were changed from to Susceptibility to chronic pancreatitis; Hereditary pancreatitis

27 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CPA1 were set to

27 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CPA1 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: CPA1 was added gene: CPA1 was added to Pancreatitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CPA1 was set to Unknown