Incidentalome
Gene: BAP1EnsemblGeneIds (GRCh38): ENSG00000163930
EnsemblGeneIds (GRCh37): ENSG00000163930
OMIM: 603089, Gene2Phenotype
BAP1 is in 10 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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
Sources: Expert listCreated: 1 Aug 2020, 7:06 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Tumor predisposition syndrome, MIM# 614327
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Tumor predisposition syndrome, MIM# 614327
- Tags
- OMIM
- 603089
- Clinvar variants
- Variants in BAP1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Bryony Thompson (Royal Melbourne Hospital)Tag cancer tag was added to gene: BAP1.
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bap1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bap1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BAP1 was added gene: BAP1 was added to Incidentalome. Sources: Expert list Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BAP1 were set to 21941004; 23684012; 21874000; 21874003 Phenotypes for gene: BAP1 were set to Tumor predisposition syndrome, MIM# 614327 Review for gene: BAP1 was set to GREEN