PanelApp (test)
  1. Genes and Genomic Entities
  2. BAP1:Ensemblv90

BAP1:Ensemblv90

BRCA1 associated protein 1
OMIM: 603089, ClinGen, DECIPHER

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green BAP1 in Incidentalome


Version 0.370

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Tumor predisposition syndrome, MIM# 614327
Tags
  • cancer

Red BAP1 in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.132

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Tumor predisposition syndrome, MIM# 614327

Green BAP1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kury-Isidor syndrome , MIM#619762

    Green BAP1 in Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 0.45

    		0 reviews Unknown
    Sources
    • Literature
    • Expert Review Green
    Tags
    • umccr

    Green BAP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kury-Isidor syndrome , MIM#619762

    Red BAP1 in CGC_86


    Version 0.3

    		0 reviews Other
    Sources
    • CGC_86
    Phenotypes
    • Tumor susceptibility linked to germline BAP1 mutations
    • BAP1 Cancer Syndrome

    Red BAP1 in NCGC


    Version 0.3

    		0 reviews Other
    Sources
    • NCGC
    Phenotypes
    • Tumor susceptibility linked to germline BAP1 mutations
    • BAP1 Cancer Syndrome

    Red BAP1 in TCGA_PANCAN_2018


    Version 0.3

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • BAP1 Cancer Syndrome
    • Tumor susceptibility linked to germline BAP1 mutations

    Green BAP1 in Renal cancer


    Level 2: Cancer susceptibility
    Version 0.5

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • SA Pathology
    Phenotypes
    • Renal cell carcinoma, usually clear cell type

    Green BAP1 in Melanoma


    Level 2: Cancer Predisposition
    Version 1.1

    		1 review 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

    Green BAP1 in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		1 review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green BAP1 in Growth failure


    Version 1.87

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Kury-Isidor syndrome , MIM#619762

    Green BAP1 in Transplant Co-Morbidity


    Level 2: Screening
    Version 0.20

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • SA Pathology
    Phenotypes
    • Tumour predisposition syndrome, MIM#614327

    Green BAP1 in Incidentalome


    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Tumor predisposition syndrome, MIM# 614327
    Tags
    • cancer

    Red BAP1 in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 1.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • Tumor predisposition syndrome, MIM# 614327

    Green BAP1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    		2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Kury-Isidor syndrome , MIM#619762

    Red BAP1 in TCGA_PANCAN_2018


    Version 1.0

    		0 reviews Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • BAP1 Cancer Syndrome
    • Tumor susceptibility linked to germline BAP1 mutations

    Green BAP1 in Renal cancer


    Level 2: Cancer susceptibility
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • SA Pathology
    • Expert Review Green
    Phenotypes
    • Renal cell carcinoma, usually clear cell type

    Green BAP1 in Melanoma


    Level 2: Cancer Predisposition
    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • SA Pathology
    • Expert Review Green
    Phenotypes
    • Melanoma, MONDO:0005105
    • BAP1-related tumor predisposition syndrome, MONDO:0013692
    • BAP1-tumour predisposition syndrome, MIM#614327

    Green BAP1 in Growth failure


    Version 2.0

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Kury-Isidor syndrome , MIM#619762

    Green BAP1 in Transplant Co-Morbidity


    Level 2: Screening
    Version 1.0

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • SA Pathology
    • Expert Review Green
    Phenotypes
    • Tumour predisposition syndrome, MIM#614327