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BAP1 associated tumour predisposition syndrome
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
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #614327) and the OMIM record was last accessed on 17 December 2025.Created: 17 Dec 2025, 10:01 p.m. | Last Modified: 17 Dec 2025, 10:01 p.m.
Panel Version: 1.2
BAP1 has been added to the panel for R422 BAP1 associated tumour predisposition syndrome with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 9:30 a.m. | Last Modified: 30 Jun 2023, 9:30 a.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Tumor predisposition syndrome, OMIM:614327
- BAP1-related tumor predisposition syndrome, MONDO:0013692
- OMIM
- 603089
- Clinvar variants
- Variants in BAP1
- Penetrance
- None
- Panels with this gene
-
- Adult solid tumours for rare disease
- BAP1 associated tumour predisposition syndrome
- Early onset or syndromic epilepsy
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- Melanoma pertinent cancer susceptibility
- Inherited renal cancer
- Familial melanoma
- Intellectual disability
- Pigmentary skin disorders
History Filter Activity
17 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: BAP1 were changed from to Tumor predisposition syndrome, OMIM:614327; BAP1-related tumor predisposition syndrome, MONDO:0013692
29 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: BAP1 was added gene: BAP1 was added to BAP1 associated tumour predisposition syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown