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  3. BAP1
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Inherited renal cancer

Gene: BAP1

Green List (high evidence)
BAP1 (BRCA1 associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000163930
EnsemblGeneIds (GRCh37): ENSG00000163930
OMIM: 603089, Gene2Phenotype
BAP1 is in 11 panels

3 reviews

Ivone Leong (Genomics England Curator)

As 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
Created: 31 Jul 2019, 12:50 p.m.
Last Modified: 31 Jul 2019, 12:50 p.m.
Panel version: 0.38

Lara Hawkes (Genomics England)

I don't know

Created: 30 Jan 2019, 10:11 a.m.

Panel version: 0.3

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Sources: UKGTN
Created: 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

Created: 28 Dec 2018, 9:08 a.m.

Panel version: 0.1

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert List
Phenotypes
  • Tumor predisposition syndrome 1, OMIM:614327
  • {Uveal melanoma, susceptibility to, 2}, OMIM:606661
OMIM
603089
Clinvar variants
Variants in BAP1
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

9 Jan 2024, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

8 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

8 Mar 2021, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: BAP1 were set to

31 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: bap1 has been classified as Green List (High Evidence).

30 Jan 2019, Gel status: 1

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert List was added to BAP1. Rating Changed from No List (delete) to Red List (low evidence)

28 Dec 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set penetrance

Rachel Robinson (Leeds Genetics Laboratory)

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