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Inherited pancreatic cancer v1.16 RABL3 Arina Puzriakova Phenotypes for gene: RABL3 were changed from Hereditary pancreatic cancer to {?Pancreatic cancer, susceptibility to, 5}, OMIM:618680; Pancreatic cancer, susceptibility to, 5, MONDO:0032867
Inherited pancreatic cancer v1.1 RABL3 Ivone Leong gene: RABL3 was added
gene: RABL3 was added to Inherited pancreatic cancer. Sources: Literature
Mode of inheritance for gene: RABL3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RABL3 were set to 31406347
Phenotypes for gene: RABL3 were set to Hereditary pancreatic cancer
Review for gene: RABL3 was set to AMBER
Added comment: PMID: 31406347 describes a family with heterozygous variant in the RABL3 gene that causes a premature nonsense mutation. The family has multiple cases of pancreatic ductal adenocarcinoma. Sanger sequencing of the affected family showed significant co-segregation of the variant with cancer. Heterozygous knockdown of the rabl3 gene in zebrafish show increased susceptibility to cancer formation.
Sources: Literature