Inherited renal cancer
Gene: BAP1As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.Created: 31 Jul 2019, 12:50 p.m. | Last Modified: 31 Jul 2019, 12:50 p.m.
Panel Version: 0.38
Sources: UKGTNCreated: 28 Dec 2018, 9:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Malignant mesothelioma after asbestos exposure; Uveal melanoma; Cutaneous melanoma; Meningioma; Renal cell carcinoma, usually clear cell type
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: BAP1 were changed from Tumor predisposition syndrome, OMIM:614327; BAP1-related tumor predisposition syndrome, MONDO:0013692; Renal cell carcinoma (disease), MONDO:0005086; Clear cell renal carcinoma, MONDO:0005005 to Tumor predisposition syndrome 1, OMIM:614327; {Uveal melanoma, susceptibility to, 2}, OMIM:606661
Phenotypes for gene: BAP1 were changed from Malignant mesothelioma after asbestos exposure; Uveal melanoma; Cutaneous melanoma; Meningioma; Renal cell carcinoma, usually clear cell type to Tumor predisposition syndrome, OMIM:614327; BAP1-related tumor predisposition syndrome, MONDO:0013692; Renal cell carcinoma (disease), MONDO:0005086; Clear cell renal carcinoma, MONDO:0005005
Publications for gene: BAP1 were set to
Gene: bap1 has been classified as Green List (High Evidence).
Source Expert List was added to BAP1. Rating Changed from No List (delete) to Red List (low evidence)
gene: BAP1 was added gene: BAP1 was added to Inherited renal cancer. Sources: UKGTN Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BAP1 were set to Malignant mesothelioma after asbestos exposure; Uveal melanoma; Cutaneous melanoma; Meningioma; Renal cell carcinoma, usually clear cell type Penetrance for gene: BAP1 were set to Incomplete Review for gene: BAP1 was set to GREEN gene: BAP1 was marked as current diagnostic