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  3. RABL3
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Inherited pancreatic cancer

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

1 review

Ivone Leong (Genomics England Curator)

I don't know

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
Created: 6 Nov 2019, 11:11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Hereditary pancreatic cancer

Publications

Created: 6 Nov 2019, 11:11 a.m.

Panel version: 1.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
Phenotypes
  • {?Pancreatic cancer, susceptibility to, 5}, OMIM:618680
  • Pancreatic cancer, susceptibility to, 5, MONDO:0032867
Clinvar variants
Variants in RABL3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

6 Nov 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

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