Adult solid tumours cancer susceptibility

Gene: RABL3

Red List (low evidence)

RABL3 (RAB, member of RAS oncogene family like 3)
EnsemblGeneIds (GRCh38): ENSG00000144840
EnsemblGeneIds (GRCh37): ENSG00000144840
RABL3 is in 2 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene was added by a reviewer and rated Green. Curated and added to the panel as Red, as this is a new publication describing only one family where a variant in this gene was reported as being associated with hereditary pancreatic cancer (PMID: 31406347). This is still displayed in OMIM as {?Pancreatic cancer, susceptibility to, 5} until more evidence arises. Functional evidence for an effect, but as there is only one family, this should remain Red until further evidence arises.
Created: 10 Dec 2019, 5:02 p.m. | Last Modified: 10 Dec 2019, 5:02 p.m.
Panel Version: 1.8

Israel Gomy (Dana-Farber Cancer Institute)

Green List (high evidence)

Susceptibility to pancreatic ductal adenocarcinoma (PDAC) may be conferred by mutation in RABL3. Other cancers, including melanoma, breast cancer, and colon cancer, have been reported in RABL3 mutation-carrying individuals, with or without PDAC.

Expression of S36X-mutant RABL3 in HEK293T cells resulted in enhanced cell proliferation consistent with an oncogenic effect. Zebrafish with truncated rabl3 protein developed cancers at a statistically significant elevated rate compared to wildtype sibs. Other studies in zebrafish confirmed the role of mutant RABL3 in promoting cancer susceptibility.
Sources: Literature, Research
Created: 27 Nov 2019, 4:42 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 OMIM 618680

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • {?Pancreatic cancer, susceptibility to, 5} 618680
Clinvar variants
Variants in RABL3
Penetrance
unknown
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

10 Dec 2019, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene: RABL3 were changed from PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 OMIM 618680 to {?Pancreatic cancer, susceptibility to, 5} 618680

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: rabl3 has been classified as Red List (Low Evidence).

10 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: rabl3 has been classified as Red List (Low Evidence).

27 Nov 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Israel Gomy (Dana-Farber Cancer Institute)

gene: RABL3 was added gene: RABL3 was added to Adult solid tumours cancer susceptibility. Sources: Literature,Research Mode of inheritance for gene: RABL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RABL3 were set to 31406347 Phenotypes for gene: RABL3 were set to PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5 OMIM 618680 Penetrance for gene: RABL3 were set to unknown Mode of pathogenicity for gene: RABL3 was set to Other Review for gene: RABL3 was set to GREEN