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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 6 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.

Clare Turnbull (Queen Mary University London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Malignant Melanoma

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Malignant Melanoma
OMIM
603089
Clinvar variants
Variants in BAP1
Penetrance
Complete
Panels with this gene

History Filter Activity

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