1. Panels
  2. Melanoma pertinent cancer susceptibility
  3. BAP1
STRs in panel
Prev Next
Regions in panel
Prev Next

Melanoma pertinent cancer susceptibility

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

2 reviews

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: 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 "Solid tumours" panel version 0.4

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
Complete
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 Malignant Melanoma to Tumor predisposition syndrome 1, OMIM:614327; {Uveal melanoma, susceptibility to, 2}, OMIM:606661

7 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Ellen McDonagh: Comment on list classification

26 Jul 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).

19 Jul 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BAP1 was added to Melanomapanel. Sources: Expert list

19 Jul 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BAP1 was created by ellenmcdonagh