This Panel is marked as Retired
Multiple Tumours
Gene: BAP1
BAP1 (BRCA1 associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000163930
EnsemblGeneIds (GRCh37): ENSG00000163930
OMIM: 603089, Gene2Phenotype
BAP1 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000163930
EnsemblGeneIds (GRCh37): ENSG00000163930
OMIM: 603089, Gene2Phenotype
BAP1 is in 11 panels
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green as this is a pertinent germline gene for malignant melanoma in the Cancer Programme.Created: 18 Apr 2017, 9:31 a.m.
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Tumor predisposition syndrome, 614327
- Tumor Predisposition Syndrome
- Melanoma (cutaneous, uveal)
- Mesothelioma
- Meningioma
- Lung cancer (adenocarcinoma)
- OMIM
- 603089
- Clinvar variants
- Variants in BAP1
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours
- Adult solid tumours for rare disease
- BAP1 associated tumour predisposition syndrome
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Intellectual disability
- Melanoma pertinent cancer susceptibility
- Inherited renal cancer
- Familial melanoma
- DDG2P
- Early onset or syndromic epilepsy
History Filter Activity
18 Apr 2017, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for BAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
18 Apr 2017, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Feb 2016, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)BAP1 was added to Multiple Tumourspanel. Source: TruSight Cancer Panel (Illumina)
22 Jul 2015, Gel status: 2
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene BAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
22 Jul 2015, Gel status: 2
Added New Source
Eik Haraldsdottir (Genomics England)BAP1 was added to Multiple Tumourspanel. Sources: Illumina TruGenome Clinical Sequencing Services
22 Jul 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)BAP1 was added to Multiple Tumourspanel. Sources: Radboud University Medical Center, Nijmegen