1. Panels
  2. Kidney Cancer
  3. BAP1
STRs in panel
Prev Next
Regions in panel
Prev Next

Kidney Cancer

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. Renal carcinoma reported in condition.
Sources: Expert list, Expert Review
Created: 12 Sep 2024, 6:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Renal carcinoma, MONDO:0005206; BAP1-related tumor predisposition syndrome, MONDO:0013692; BAP1-tumour predisposition syndrome, MIM#614327

Created: 12 Sep 2024, 6:06 a.m.

Panel version: 0.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Renal carcinoma, MONDO:0005206
  • 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

12 Sep 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).

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

12 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: BAP1 was added gene: BAP1 was added to Kidney Cancer. Sources: Expert list,Expert Review Mode of inheritance for gene: BAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BAP1 were set to Renal carcinoma, MONDO:0005206; BAP1-related tumor predisposition syndrome, MONDO:0013692; BAP1-tumour predisposition syndrome, MIM#614327 Review for gene: BAP1 was set to GREEN