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  3. BAP1
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Melanoma

Gene: BAP1

Green List (high evidence)
BAP1 (BRCA1 associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000163930
EnsemblGeneIds (GRCh37): ENSG00000163930
OMIM: 603089, Gene2Phenotype
BAP1 is in 10 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Melanomas reported in condition.
Created: 12 Sep 2024, 3:31 a.m. | Last Modified: 12 Sep 2024, 3:31 a.m.
Panel Version: 0.9

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Melanoma, MONDO:0005105; BAP1-related tumor predisposition syndrome, MONDO:0013692; BAP1-tumour predisposition syndrome, MIM#614327

Created: 12 Sep 2024, 3:31 a.m.
Last Modified: 12 Sep 2024, 3:31 a.m.
Panel version: 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • SA Pathology
Phenotypes
  • Melanoma, MONDO:0005105
  • BAP1-related tumor predisposition syndrome, MONDO:0013692
  • BAP1-tumour predisposition syndrome, MIM#614327
OMIM
603089
Clinvar variants
Variants in BAP1
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BAP1 were changed from to Melanoma, MONDO:0005105; BAP1-related tumor predisposition syndrome, MONDO:0013692; BAP1-tumour predisposition syndrome, MIM#614327

9 Aug 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BAP1 was added gene: BAP1 was added to Melanoma. Sources: SA Pathology,Expert Review Green Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BAP1 were set to Tumour predisposition syndrome, MIM#614327