Pancreatitis
Gene: CPA1
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
Phenotypes for gene: CPA1 were changed from Susceptibility to chronic pancreatitis; Hereditary pancreatitis to Hereditary pancreatitis, MONDO:0008185, CPA1-related
Gene: cpa1 has been classified as Green List (High Evidence).
Phenotypes for gene: CPA1 were changed from to Susceptibility to chronic pancreatitis; Hereditary pancreatitis
Publications for gene: CPA1 were set to
Mode of inheritance for gene: CPA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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