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  3. BAP1
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Familial melanoma

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

5 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, 12:54 p.m. | Last Modified: 31 Jul 2019, 12:54 p.m.
Panel Version: 0.23
Created: 31 Jul 2019, 12:54 p.m.
Last Modified: 31 Jul 2019, 12:54 p.m.
Panel version: 0.23

Rachel Robinson (Leeds Genetics Laboratory)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 30 Jan 2019, 10:20 a.m.

Panel version: 0.3

Lara Hawkes (Genomics England)

Green List (high evidence)

Created: 30 Jan 2019, 10:20 a.m.

Panel version: 0.3

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Details checked against the Gene List for Reporting Germline Findings in Cancer Patients Version 1.5 document, for Malignant Melanoma.
Created: 26 Jul 2017, 11:54 a.m.
Created: 26 Jul 2017, 11:54 a.m.

Panel version: Imported from Melanoma pertinent cancer susceptibility panel version 0.6

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Malignant Melanoma

Created: 20 Jul 2017, 1:36 p.m.

Panel version: Imported from Melanoma pertinent cancer susceptibility panel version Imported from "Solid tumours" panel version 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • Expert List
Phenotypes
  • Tumor predisposition syndrome 1, OMIM:614327
  • {Uveal melanoma, susceptibility to, 2}, OMIM:606661
OMIM
603089
Clinvar variants
Variants in BAP1
Penetrance
None
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 to Tumor predisposition syndrome 1, OMIM:614327; {Uveal melanoma, susceptibility to, 2}, OMIM:606661

30 Jan 2019, Gel status: 3

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: BAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

30 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

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: BAP1 was added gene: BAP1 was added to Familial melanoma. Sources: Expert List,NHS GMS Mode of inheritance for gene: BAP1 was set to