Cancer Predisposition_Paediatric
Gene: BAP1

BAP1 (BRCA1 associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000163930
EnsemblGeneIds (GRCh37): ENSG00000163930
OMIM: 603089, Gene2Phenotype
BAP1 is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Generally adult onset, high-risk for the development of a variety of tumors, including benign melanocytic tumors as well as several malignant tumors, including uveal melanoma, cutaneous melanoma, malignant mesothelioma on exposure to asbestos, and other cancer types, such as lung adenocarcinoma, meningioma, and renal cell carcinoma
Created: 1 Aug 2020, 7:02 a.m. | Last Modified: 1 Aug 2020, 7:02 a.m.

Panel Version: 0.21

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tumor predisposition syndrome, MIM# 614327

Publications

Created: 1 Aug 2020, 7:02 a.m.
Last Modified: 1 Aug 2020, 7:02 a.m.
Panel version: 0.21

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Tumor predisposition syndrome, MIM# 614327

OMIM

603089

Clinvar variants

Variants in BAP1

Penetrance

None

Publications

Panels with this gene